#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
ANAPC4	29945	broad.mit.edu	37	4	25384881	25384881	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:25384881A>T	ENST00000315368.3	+	4	377		c.e4-1		ANAPC4_ENST00000510092.1_Splice_Site	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTCTTGTTTTAGTTTTGGCCT	0.343																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.e4-1		anaphase promoting complex subunit 4							127.0	117.0	121.0					4																	25384881		2203	4299	6502	SO:0001630	splice_region_variant	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25384881A>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.236-1A>T	4.37:g.25384881A>T						ANAPC4_ENST00000510092.1_Splice_Site		NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			4	377	+		Breast(46;0.0503)						A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Splice_Site	SNP	ENST00000315368.3	37		CCDS3434.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.237719	0.79800	.	.	ENSG00000053900	ENST00000315368;ENST00000510092;ENST00000505991	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9279	0.79635	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANAPC4	24993979	1.000000	0.71417	0.984000	0.44739	0.949000	0.60115	8.799000	0.91895	2.165000	0.68154	0.482000	0.46254	.		0.343	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367	Intron	6	105	0	0	0	1	0	6	105				
SERPINB4	6318	broad.mit.edu	37	18	61306911	61306911	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr18:61306911A>T	ENST00000341074.5	-	6	684	c.569T>A	c.(568-570)tTt>tAt	p.F190Y	SERPINB4_ENST00000356424.6_Missense_Mutation_p.F190Y	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	190					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TTCTTTTTTAAATTTATTCTC	0.299																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(568-570)tTt>tAt		serpin peptidase inhibitor, clade B (ovalbumin), member 4							55.0	57.0	57.0					18																	61306911		2202	4299	6501	SO:0001583	missense	6318							g.chr18:61306911A>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.569T>A	18.37:g.61306911A>T	ENSP00000343445:p.Phe190Tyr					SERPINB4_ENST00000356424.6_Missense_Mutation_p.F190Y	p.F190Y	NM_002974.2	NP_002965.1					6	684	-								A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.569T>A	CCDS11986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.030006|4.030006	0.75504|0.75504	.|.	.|.	ENSG00000206073|ENSG00000206073	ENST00000341074;ENST00000356424;ENST00000436264|ENST00000413673	D;D;D|.	0.94862|.	-3.54;-3.54;-3.54|.	4.27|4.27	4.27|4.27	0.50696|0.50696	Serpin domain (3);|.	0.000000|.	0.40554|.	N|.	0.001075|.	D|D	0.89444|0.89444	0.6717|0.6717	H|H	0.99697|0.99697	4.71|4.71	0.38007|0.38007	D|D	0.934428|0.934428	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.94181|0.94181	0.7432|0.7432	10|5	0.87932|.	D|.	0|.	.|.	12.7713|12.7713	0.57423|0.57423	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	190;190|.	P48594;Q9BYF7|.	SPB4_HUMAN;.|.	Y|I	190;190;147|192	ENSP00000343445:F190Y;ENSP00000348795:F190Y;ENSP00000399796:F147Y|.	ENSP00000343445:F190Y|.	F|L	-|-	2|1	0|2	SERPINB4|SERPINB4	59457891|59457891	1.000000|1.000000	0.71417|0.71417	0.028000|0.028000	0.17463|0.17463	0.012000|0.012000	0.07955|0.07955	8.907000|8.907000	0.92634|0.92634	1.797000|1.797000	0.52628|0.52628	0.491000|0.491000	0.48974|0.48974	TTT|TTA		0.299	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		4	116	0	0	0	1	0	4	116				
CST9L	128821	broad.mit.edu	37	20	23545640	23545640	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:23545640G>A	ENST00000376979.3	-	3	687	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	130						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGTCATCCAGGGCCTGGTGCT	0.552																																						ENST00000376979.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(388-390)cCc>cTc		cystatin 9-like							157.0	137.0	144.0					20																	23545640		2203	4300	6503	SO:0001583	missense	128821					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23545640G>A		CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"""cystatin 9 (mouse)-like"""			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.389C>T	20.37:g.23545640G>A	ENSP00000366178:p.Pro130Leu						p.P130L	NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN			3	687	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		130					B2R5A1	Missense_Mutation	SNP	ENST00000376979.3	37	c.389C>T	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034087	0.35893	.	.	ENSG00000101435	ENST00000376979	T	0.30182	1.54	1.74	1.74	0.24563	Proteinase inhibitor I25, cystatin (2);	0.212825	0.24067	N	0.041855	T	0.53594	0.1806	M	0.87381	2.88	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.34403	-0.9830	10	0.87932	D	0	.	6.9494	0.24536	0.0:0.0:1.0:0.0	.	130	Q9H4G1	CST9L_HUMAN	L	130	ENSP00000366178:P130L	ENSP00000366178:P130L	P	-	2	0	CST9L	23493640	0.525000	0.26290	0.058000	0.19502	0.007000	0.05969	2.709000	0.47160	1.262000	0.44165	0.305000	0.20034	CCC		0.552	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	NM_080610		121	159	0	0	0	1	0	121	159				
ADAD1	132612	broad.mit.edu	37	4	123336532	123336532	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:123336532A>T	ENST00000296513.2	+	11	1434		c.e11-1		ADAD1_ENST00000388725.2_Splice_Site|ADAD1_ENST00000388724.2_Splice_Site	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)						multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTGCTTTCTAGGTGATGGGA	0.343																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.e11-1		adenosine deaminase domain containing 1 (testis-specific)							73.0	72.0	73.0					4																	123336532		2203	4299	6502	SO:0001630	splice_region_variant	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123336532A>T	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1250-1A>T	4.37:g.123336532A>T						ADAD1_ENST00000388724.2_Splice_Site|ADAD1_ENST00000388725.2_Splice_Site		NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			11	1434	+								A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Splice_Site	SNP	ENST00000296513.2	37		CCDS34058.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.181486	0.78677	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2863	0.73831	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAD1	123555982	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.045000	0.89436	2.020000	0.59435	0.528000	0.53228	.		0.343	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243	Intron	5	229	0	0	0	1	0	5	229				
MND1	84057	broad.mit.edu	37	4	154276832	154276832	+	Silent	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:154276832G>A	ENST00000504860.1	+	2	94	c.51G>A	c.(49-51)ttG>ttA	p.L17L	MND1_ENST00000503967.1_3'UTR|MND1_ENST00000240488.3_Silent_p.L32L					meiotic nuclear divisions 1 homolog (S. cerevisiae)											large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					TAAAAGACTTGGAGAAGATTG	0.279																																						ENST00000240488.3																			0				large_intestine(2)|lung(1)	3						c.(94-96)ttG>ttA		meiotic nuclear divisions 1 homolog (S. cerevisiae)							51.0	56.0	54.0					4																	154276832		2202	4294	6496	SO:0001819	synonymous_variant	84057				DNA recombination|meiosis	nucleus	DNA binding	g.chr4:154276832G>A	AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000504860.1:c.51G>A	4.37:g.154276832G>A						MND1_ENST00000504860.1_Silent_p.L17L|MND1_ENST00000503967.1_3'UTR	p.L32L	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN			3	185	+	all_hematologic(180;0.093)		32						Silent	SNP	ENST00000504860.1	37	c.96G>A																																																																																					0.279	MND1-002	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365195.1	NM_032117		4	145	0	0	0	1	0	4	145				
RASGRP1	10125	broad.mit.edu	37	15	38808503	38808503	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:38808503A>T	ENST00000310803.5	-	6	747	c.570T>A	c.(568-570)aaT>aaA	p.N190K	RASGRP1_ENST00000450598.2_Missense_Mutation_p.N190K|RASGRP1_ENST00000539159.1_Missense_Mutation_p.N142K|RASGRP1_ENST00000558164.1_Missense_Mutation_p.N190K|RASGRP1_ENST00000559830.1_Missense_Mutation_p.N190K|RASGRP1_ENST00000561180.1_Missense_Mutation_p.N241K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	190					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCTTGCTGGTATTTGATTTTA	0.458																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(568-570)aaT>aaA		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							166.0	151.0	156.0					15																	38808503		1885	4103	5988	SO:0001583	missense	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38808503A>T	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.570T>A	15.37:g.38808503A>T	ENSP00000310244:p.Asn190Lys					RASGRP1_ENST00000561180.1_Missense_Mutation_p.N241K|RASGRP1_ENST00000539159.1_Missense_Mutation_p.N142K|RASGRP1_ENST00000450598.2_Missense_Mutation_p.N190K|RASGRP1_ENST00000558164.1_Missense_Mutation_p.N190K|RASGRP1_ENST00000559830.1_Missense_Mutation_p.N190K	p.N190K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	6	747	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	190					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	c.570T>A	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.385213	0.61956	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.03	-3.13	0.05266	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	L	0.51422	1.61	0.50313	D	0.999862	D;P;B;B	0.56521	0.976;0.945;0.034;0.057	P;P;B;B	0.52598	0.703;0.549;0.032;0.07	T	0.52238	-0.8602	10	0.05721	T	0.95	-30.471	17.0703	0.86571	0.1363:0.0:0.8637:0.0	.	190;190;190;190	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	K	190;190;190;190;142;190;190	ENSP00000310244:N190K;ENSP00000388540:N190K;ENSP00000444762:N142K;ENSP00000413105:N190K	ENSP00000310244:N190K	N	-	3	2	RASGRP1	36595795	1.000000	0.71417	0.936000	0.37596	0.995000	0.86356	1.144000	0.31565	-0.571000	0.06014	-0.250000	0.11733	AAT		0.458	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		7	282	0	0	0	1	0	7	282				
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.e7-1		coiled-coil domain containing 91							191.0	185.0	187.0					12																	28458580		2203	4300	6503	SO:0001630	splice_region_variant	55297				protein transport	Golgi apparatus|membrane		g.chr12:28458580A>T	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.110-1A>T	12.37:g.28458580A>T						CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site				Q7Z6B0	CCD91_HUMAN			7	528	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)							B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Splice_Site	SNP	ENST00000545336.1	37		CCDS8716.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368066	0.24771	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0599	0.47942	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC91	28349847	0.998000	0.40836	0.923000	0.36655	0.233000	0.25261	4.431000	0.59915	2.172000	0.68678	0.477000	0.44152	.		0.393	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	Intron	14	769	0	0	0	1	0	14	769				
PRDM4	11108	broad.mit.edu	37	12	108127989	108127989	+	Nonstop_Mutation	SNP	A	A	T	rs560662752		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:108127989A>T	ENST00000228437.5	-	12	2863	c.2404T>A	c.(2404-2406)Taa>Aaa	p.*802K	RP11-864J10.4_ENST00000546714.1_RNA|RP11-864J10.4_ENST00000546829.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	0					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TTTTCCTTTTATTTATGTGCA	0.358																																						ENST00000228437.5																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(2404-2406)Taa>Aaa		PR domain containing 4							98.0	100.0	99.0					12																	108127989		2203	4300	6503	SO:0001578	stop_lost	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108127989A>T	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2404T>A	12.37:g.108127989A>T							p.*802K	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN			12	2863	-			0					Q9UFA6	Nonstop_Mutation	SNP	ENST00000228437.5	37	c.2404T>A	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	A	31	5.072663	0.93950	.	.	ENSG00000110851	ENST00000228437	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3011	0.66352	1.0:0.0:0.0:0.0	.	.	.	.	K	802	.	.	X	-	1	0	PRDM4	106652119	0.488000	0.25996	0.470000	0.27216	0.939000	0.58152	4.818000	0.62657	2.313000	0.78055	0.454000	0.30748	TAA		0.358	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		11	272	0	0	0	1	0	11	272				
ABCC11	85320	broad.mit.edu	37	16	48218463	48218463	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:48218463C>A	ENST00000394747.1	-	22	3495	c.3146G>T	c.(3145-3147)aGg>aTg	p.R1049M	ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049M|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049M|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049M	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1049	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GATCTCCAGCCTCAATGCCAT	0.483																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3145-3147)aGg>aTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							197.0	164.0	175.0					16																	48218463		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48218463C>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3146G>T	16.37:g.48218463C>A	ENSP00000378230:p.Arg1049Met					ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049M|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049M|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049M|ABCC11_ENST00000565329.1_5'UTR	p.R1049M	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			22	3495	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1049			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3146G>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.206115	0.39003	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	5.57	3.62	0.41486	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.293222	0.33938	N	0.004410	D	0.93785	0.8013	M	0.86651	2.83	0.27225	N	0.959569	D;D	0.71674	0.998;0.994	P;D	0.70487	0.891;0.969	D	0.87595	0.2493	10	0.66056	D	0.02	-14.9349	8.8685	0.35300	0.0:0.8275:0.0:0.1725	.	1049;1049	Q96J66-2;Q96J66	.;ABCCB_HUMAN	M	1049	ENSP00000311326:R1049M;ENSP00000349017:R1049M;ENSP00000378231:R1049M;ENSP00000378230:R1049M	ENSP00000311326:R1049M	R	-	2	0	ABCC11	46775964	0.185000	0.23213	0.204000	0.23530	0.229000	0.25112	1.868000	0.39509	0.720000	0.32209	0.563000	0.77884	AGG		0.483	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		143	201	1	0	8.59004e-37	1	9.26683e-37	143	201				
NRXN1	9378	broad.mit.edu	37	2	50724784	50724784	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:50724784G>A	ENST00000406316.2	-	14	4042	c.2566C>T	c.(2566-2568)Cgg>Tgg	p.R856W	NRXN1_ENST00000404971.1_Missense_Mutation_p.R896W|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.R856W|NRXN1_ENST00000405472.3_Missense_Mutation_p.R848W|NRXN1_ENST00000406859.3_Missense_Mutation_p.R856W|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000402717.3_Missense_Mutation_p.R848W	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	856	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.R856W(1)|p.R897W(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAAAGATACCGTCGTTCTGTG	0.403																																						ENST00000404971.1																			2	Substitution - Missense(2)	p.R856W(1)|p.R897W(1)	large_intestine(2)	breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2686-2688)Cgg>Tgg		neurexin 1							92.0	85.0	87.0					2																	50724784		1943	4141	6084	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50724784G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2566C>T	2.37:g.50724784G>A	ENSP00000384311:p.Arg856Trp					NRXN1_ENST00000402717.3_Missense_Mutation_p.R848W|NRXN1_ENST00000406859.3_Missense_Mutation_p.R856W|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.R848W|NRXN1_ENST00000406316.2_Missense_Mutation_p.R856W|NRXN1_ENST00000401669.2_Missense_Mutation_p.R856W	p.R896W	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		15	4025	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	856					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2686C>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358195	0.82243	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.97	4.13	0.48395	.	0.000000	0.85682	D	0.000000	D	0.88437	0.6436	M	0.83012	2.62	0.45097	D	0.998113	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.995	D	0.89273	0.3606	10	0.59425	D	0.04	.	15.3392	0.74282	0.0:0.0:0.7447:0.2553	.	896;856;848	Q9ULB1-3;F8WB18;A7E294	.;.;.	W	896;856;848;856;897;848;856	ENSP00000385142:R896W;ENSP00000384311:R856W;ENSP00000434015:R848W;ENSP00000385017:R856W;ENSP00000385434:R848W;ENSP00000385681:R856W	ENSP00000385017:R856W	R	-	1	2	NRXN1	50578288	1.000000	0.71417	0.079000	0.20413	0.990000	0.78478	6.400000	0.73252	0.813000	0.34350	0.561000	0.74099	CGG		0.403	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			8	207	0	0	0	1	0	8	207				
ITFG3	83986	broad.mit.edu	37	16	309548	309548	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:309548A>T	ENST00000399932.3	+	4	786	c.335A>T	c.(334-336)tAt>tTt	p.Y112F	ITFG3_ENST00000600536.1_Missense_Mutation_p.Y112F|ITFG3_ENST00000301678.3_Missense_Mutation_p.Y112F|ITFG3_ENST00000442458.2_Missense_Mutation_p.Y112F|ITFG3_ENST00000301679.2_Missense_Mutation_p.Y112F|ITFG3_ENST00000450082.2_Missense_Mutation_p.Y112F	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	112						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CTTTTTCTTTATAAAAACACC	0.413																																						ENST00000399932.3																			0				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(334-336)tAt>tTt		integrin alpha FG-GAP repeat containing 3							144.0	147.0	146.0					16																	309548		1848	4096	5944	SO:0001583	missense	83986					integral to membrane		g.chr16:309548A>T	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.335A>T	16.37:g.309548A>T	ENSP00000382814:p.Tyr112Phe					ITFG3_ENST00000301679.2_Missense_Mutation_p.Y112F|ITFG3_ENST00000442458.2_Missense_Mutation_p.Y112F|ITFG3_ENST00000301678.3_Missense_Mutation_p.Y112F|ITFG3_ENST00000600536.1_Missense_Mutation_p.Y112F|ITFG3_ENST00000450082.2_Missense_Mutation_p.Y112F	p.Y112F			Q9H0X4	ITFG3_HUMAN			4	786	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	112					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	ENST00000399932.3	37	c.335A>T	CCDS10402.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.704|9.704	1.155282|1.155282	0.21454|0.21454	.|.	.|.	ENSG00000167930|ENSG00000167930	ENST00000421000|ENST00000399932;ENST00000301679;ENST00000438220;ENST00000453430;ENST00000442458;ENST00000449945;ENST00000420046;ENST00000301678;ENST00000450082	.|T;T;T;T;T;T;T;T	.|0.56611	.|0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.35|5.35	5.35|5.35	0.76521|0.76521	.|Quinonprotein alcohol dehydrogenase-like (1);	.|0.288248	.|0.34531	.|N	.|0.003899	T|T	0.41282|0.41282	0.1152|0.1152	L|L	0.47190|0.47190	1.495|1.495	0.32719|0.32719	N|N	0.510614|0.510614	.|B;B	.|0.31931	.|0.347;0.347	.|B;B	.|0.30105	.|0.111;0.111	T|T	0.51741|0.51741	-0.8667|-0.8667	5|10	.|0.21014	.|T	.|0.42	-26.5365|-26.5365	8.5695|8.5695	0.33561|0.33561	0.7314:0.0:0.0:0.2686|0.7314:0.0:0.0:0.2686	.|.	.|112;112	.|Q9H0X4-2;Q9H0X4	.|.;ITFG3_HUMAN	L|F	41|112	.|ENSP00000382814:Y112F;ENSP00000301679:Y112F;ENSP00000399150:Y112F;ENSP00000397477:Y112F;ENSP00000407669:Y112F;ENSP00000398433:Y112F;ENSP00000301678:Y112F;ENSP00000411394:Y112F	.|ENSP00000301678:Y112F	I|Y	+|+	1|2	0|0	ITFG3|ITFG3	249549|249549	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.632000|0.632000	0.37999|0.37999	3.477000|3.477000	0.53151|0.53151	2.041000|2.041000	0.60428|0.60428	0.533000|0.533000	0.62120|0.62120	ATA|TAT		0.413	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		10	320	0	0	0	1	0	10	320				
PRKAA2	5563	broad.mit.edu	37	1	57140052	57140052	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:57140052A>T	ENST00000371244.4	+	2	160		c.e2-1			NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit						autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TCTTTTCTTTAGTTGGAGAAC	0.313																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.e2-1		protein kinase, AMP-activated, alpha 2 catalytic subunit							54.0	60.0	58.0					1																	57140052		2200	4289	6489	SO:0001630	splice_region_variant	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57140052A>T	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.95-1A>T	1.37:g.57140052A>T								NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			2	160	+								Q9H1E8|Q9UD43	Splice_Site	SNP	ENST00000371244.4	37		CCDS605.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582841	0.65992	.	.	ENSG00000162409	ENST00000371244	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8369	0.78805	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKAA2	56912640	1.000000	0.71417	0.963000	0.40424	0.695000	0.40330	8.883000	0.92426	2.200000	0.70718	0.529000	0.55759	.		0.313	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252	Intron	7	134	0	0	0	1	0	7	134				
WRN	7486	broad.mit.edu	37	8	30945375	30945375	+	Silent	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr8:30945375T>A	ENST00000298139.5	+	12	1764	c.1515T>A	c.(1513-1515)acT>acA	p.T505T		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	505					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GTCTTCCTACTAaagaagaag	0.353			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1513-1515)acT>acA	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							80.0	81.0	80.0					8																	30945375		2203	4300	6503	SO:0001819	synonymous_variant	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945375T>A		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1515T>A	8.37:g.30945375T>A							p.T505T	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1764	+		Breast(100;0.195)	505					A1KYY9	Silent	SNP	ENST00000298139.5	37	c.1515T>A	CCDS6082.1																																																																																				0.353	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			6	209	0	0	0	1	0	6	209				
LAMA1	284217	broad.mit.edu	37	18	7046368	7046368	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr18:7046368T>A	ENST00000389658.3	-	6	862		c.e6-2			NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1						axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATAATAATACTAAGGAAAAAG	0.338																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.e6-2		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						50.0	53.0	52.0					18																	7046368		2203	4300	6503	SO:0001630	splice_region_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7046368T>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.769-2A>T	18.37:g.7046368T>A								NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			6	862	-		Colorectal(10;0.172)							Splice_Site	SNP	ENST00000389658.3	37		CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621017	0.87460	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0507	0.80760	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA1	7036368	1.000000	0.71417	0.939000	0.37840	0.985000	0.73830	7.829000	0.86735	2.243000	0.73865	0.528000	0.53228	.		0.338	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	Intron	5	121	0	0	0	1	0	5	121				
OR4D1	26689	broad.mit.edu	37	17	56232613	56232613	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:56232613A>T	ENST00000268912.5	+	1	120	c.99A>T	c.(97-99)ttA>ttT	p.L33F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	33					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGTTCCTGTTAGTCTATGTTA	0.458																																						ENST00000268912.5																			0				kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(97-99)ttA>ttT		olfactory receptor, family 4, subfamily D, member 1							145.0	144.0	145.0					17																	56232613		2027	4204	6231	SO:0001583	missense	26689				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56232613A>T	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.99A>T	17.37:g.56232613A>T	ENSP00000365451:p.Leu33Phe						p.L33F	NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN			1	120	+			33					B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	c.99A>T	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	a	1.916	-0.449506	0.04572	.	.	ENSG00000141194	ENST00000268912	T	0.13901	2.55	5.48	-1.36	0.09085	.	1.091030	0.07211	N	0.859171	T	0.10981	0.0268	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.40961	-0.9535	10	0.22706	T	0.39	1.0207	6.8548	0.24034	0.2381:0.0:0.4019:0.3601	.	33	Q15615	OR4D1_HUMAN	F	33	ENSP00000365451:L33F	ENSP00000365451:L33F	L	+	3	2	OR4D1	53587612	0.000000	0.05858	0.069000	0.20011	0.142000	0.21351	-0.156000	0.10100	-0.203000	0.10251	-0.444000	0.05651	TTA		0.458	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			9	467	0	0	0	1	0	9	467				
ZKSCAN4	387032	broad.mit.edu	37	6	28219931	28219931	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:28219931G>A	ENST00000377294.2	-	0	71				ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTTATAGTCCGTGCCTTTGCA	0.537																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18								zinc finger with KRAB and SCAN domains 4																																						387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28219931G>A	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511		6.37:g.28219931G>A						ZKSCAN4_ENST00000423974.2_Intron		NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			0	71	-								B2RE32|Q5U7L4	Translation_Start_Site	SNP	ENST00000377294.2	37		CCDS4647.1																																																																																				0.537	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		6	2	0	0	0	1	0	6	2				
RNF168	165918	broad.mit.edu	37	3	196210676	196210676	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:196210676A>T	ENST00000318037.3	-	4	1239	c.645T>A	c.(643-645)agT>agA	p.S215R		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	215					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GTTTGTTCTTACTTTTCTTTT	0.363																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(643-645)agT>agA		ring finger protein 168, E3 ubiquitin protein ligase							223.0	213.0	216.0					3																	196210676		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196210676A>T	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.645T>A	3.37:g.196210676A>T	ENSP00000320898:p.Ser215Arg						p.S215R	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	4	1239	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		215					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.645T>A	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.459584	0.26248	.	.	ENSG00000163961	ENST00000318037	T	0.07114	3.22	6.06	3.66	0.41972	.	0.427326	0.21827	N	0.068526	T	0.08447	0.0210	M	0.63428	1.95	0.32275	N	0.568292	B	0.12630	0.006	B	0.10450	0.005	T	0.12967	-1.0527	10	0.15952	T	0.53	-2.4676	5.9656	0.19322	0.5946:0.3244:0.081:0.0	.	215	Q8IYW5	RN168_HUMAN	R	215	ENSP00000320898:S215R	ENSP00000320898:S215R	S	-	3	2	RNF168	197695073	0.999000	0.42202	0.979000	0.43373	0.962000	0.63368	0.819000	0.27308	1.071000	0.40834	0.533000	0.62120	AGT		0.363	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		6	244	0	0	0	1	0	6	244				
C6orf222	389384	broad.mit.edu	37	6	36298372	36298372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:36298372C>T	ENST00000437635.2	-	2	273	c.96G>A	c.(94-96)tgG>tgA	p.W32*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	32										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AATGGCAGTCCCACGACTCCG	0.647																																						ENST00000437635.2																			0				breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						c.(94-96)tgG>tgA		chromosome 6 open reading frame 222							51.0	58.0	56.0					6																	36298372		2202	4300	6502	SO:0001587	stop_gained	389384							g.chr6:36298372C>T		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.96G>A	6.37:g.36298372C>T	ENSP00000418983:p.Trp32*						p.W32*	NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN			2	273	-			32					B2RTY8	Nonsense_Mutation	SNP	ENST00000437635.2	37	c.96G>A	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184556	0.78677	.	.	ENSG00000189325	ENST00000437635	.	.	.	4.76	2.9	0.33743	.	1.944880	0.02601	N	0.101005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-22.7382	6.4133	0.21702	0.0:0.7119:0.1857:0.1024	.	.	.	.	X	32	.	ENSP00000418983:W32X	W	-	3	0	C6orf222	36406350	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	0.328000	0.19681	0.491000	0.27793	0.471000	0.43371	TGG		0.647	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		78	17	0	0	0	1	0	78	17				
MON2	23041	broad.mit.edu	37	12	62888824	62888824	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:62888824T>G	ENST00000393632.2	+	4	723	c.332T>G	c.(331-333)cTt>cGt	p.L111R	MON2_ENST00000280379.6_Missense_Mutation_p.L111R|MON2_ENST00000552115.1_Missense_Mutation_p.L111R|MON2_ENST00000552738.1_Missense_Mutation_p.L111R|MON2_ENST00000546600.1_Missense_Mutation_p.L111R|MON2_ENST00000549378.1_Intron|MON2_ENST00000393629.2_Missense_Mutation_p.L111R|MON2_ENST00000393630.3_Missense_Mutation_p.L111R	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	111					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ATTAACATGCTTTGGCAGCTA	0.318																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(331-333)cTt>cGt		MON2 homolog (S. cerevisiae)							85.0	80.0	82.0					12																	62888824		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62888824T>G		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.332T>G	12.37:g.62888824T>G	ENSP00000377252:p.Leu111Arg					MON2_ENST00000280379.6_Missense_Mutation_p.L111R|MON2_ENST00000549378.1_Intron|MON2_ENST00000546600.1_Missense_Mutation_p.L111R|MON2_ENST00000393629.2_Missense_Mutation_p.L111R|MON2_ENST00000552738.1_Missense_Mutation_p.L111R|MON2_ENST00000552115.1_Missense_Mutation_p.L111R|MON2_ENST00000393632.2_Missense_Mutation_p.L111R	p.L111R	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	4	723	+			111					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.332T>G	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.494219	0.85069	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.76578	-1.01;-1.03;-1.03;-1.01;-1.01;-1.03;0.64	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.87928	0.6301	M	0.82132	2.575	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.998;0.997;0.998	D	0.88745	0.3246	9	.	.	.	-18.4411	14.2865	0.66249	0.0:0.0:0.0:1.0	.	111;111;111;111	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	R	111;111;111;111;39;111;111;111	ENSP00000377252:L111R;ENSP00000377250:L111R;ENSP00000280379:L111R;ENSP00000447407:L111R;ENSP00000449215:L111R;ENSP00000377249:L111R;ENSP00000446635:L111R	.	L	+	2	0	MON2	61175091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.170000	0.68504	0.482000	0.46254	CTT		0.318	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		4	95	0	0	0	1	0	4	95				
RAB11FIP3	9727	broad.mit.edu	37	16	476700	476700	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:476700A>G	ENST00000262305.4	+	1	1082	c.694A>G	c.(694-696)Acg>Gcg	p.T232A	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.T232A	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	232	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CCAGTTTGCTACGGTCTACGG	0.706																																					Melanoma(160;2366 2595 4474 8099)	ENST00000262305.4																			0				breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12						c.(694-696)Acg>Gcg		RAB11 family interacting protein 3 (class II)							26.0	36.0	33.0					16																	476700		2196	4296	6492	SO:0001583	missense	9727				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr16:476700A>G	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.694A>G	16.37:g.476700A>G	ENSP00000262305:p.Thr232Ala					RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.T232A	p.T232A	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN			1	1082	+		Hepatocellular(16;0.0218)	232			EF-hand 1.		B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Missense_Mutation	SNP	ENST00000262305.4	37	c.694A>G	CCDS32351.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.629043	0.28978	.	.	ENSG00000090565	ENST00000262305;ENST00000457159;ENST00000434585	T;T;T	0.71103	-0.54;-0.54;-0.54	3.45	3.45	0.39498	EF-hand-like domain (1);	.	.	.	.	T	0.56187	0.1968	L	0.32530	0.975	0.80722	D	1	B	0.27791	0.189	B	0.24974	0.057	T	0.51156	-0.8741	9	0.22706	T	0.39	.	10.8672	0.46862	1.0:0.0:0.0:0.0	.	232	O75154	RFIP3_HUMAN	A	232;232;108	ENSP00000262305:T232A;ENSP00000398730:T232A;ENSP00000399644:T108A	ENSP00000262305:T232A	T	+	1	0	RAB11FIP3	416701	0.986000	0.35501	0.977000	0.42913	0.904000	0.53231	3.472000	0.53114	1.438000	0.47492	0.408000	0.27601	ACG		0.706	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		2	16	0	0	0	1	0	2	16				
TRPM3	80036	broad.mit.edu	37	9	73206031	73206031	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:73206031C>G	ENST00000377111.2	-	21	3346	c.3103G>C	c.(3103-3105)Gag>Cag	p.E1035Q	TRPM3_ENST00000360823.2_Missense_Mutation_p.E897Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.E907Q|TRPM3_ENST00000377110.3_Missense_Mutation_p.E1035Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.E894Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.E894Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.E897Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E884Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1039Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E907Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.E882Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1062Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1060					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CATGATGGCTCCTCATTGGGA	0.458																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(3103-3105)Gag>Cag		transient receptor potential cation channel, subfamily M, member 3							151.0	134.0	140.0					9																	73206031		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73206031C>G	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3103G>C	9.37:g.73206031C>G	ENSP00000366315:p.Glu1035Gln					TRPM3_ENST00000360823.2_Missense_Mutation_p.E897Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.E894Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E907Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.E894Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E884Q|TRPM3_ENST00000377111.2_Missense_Mutation_p.E1035Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.E882Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.E907Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1039Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1062Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.E897Q	p.E1035Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			21	3346	-			1060					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3103G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.39|15.39	2.820181|2.820181	0.50633|0.50633	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	D;D;D;D;D;D;D;D;D;D;D|.	0.98474|.	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.052428|.	0.85682|.	D|.	0.000000|.	T|T	0.59797|0.59797	0.2220|0.2220	L|L	0.31804|0.31804	0.96|0.96	0.49389|0.49389	D|D	0.999786|0.999786	B;B;D;B;B;D;B;B|.	0.76494|.	0.185;0.058;0.987;0.221;0.11;0.999;0.317;0.182|.	B;B;P;B;B;D;B;B|.	0.68192|.	0.281;0.037;0.828;0.309;0.156;0.956;0.281;0.081|.	T|T	0.52403|0.52403	-0.8580|-0.8580	10|5	0.34782|.	T|.	0.22|.	-23.0749|-23.0749	19.9941|19.9941	0.97377|0.97377	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1035;1035;1025;1039;897;894;1007;882|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	Q|A	1035;1035;907;897;894;1039;894;882;907;897;1062|883	ENSP00000366315:E1035Q;ENSP00000366314:E1035Q;ENSP00000366310:E907Q;ENSP00000354066:E897Q;ENSP00000366309:E894Q;ENSP00000350140:E1039Q;ENSP00000386127:E894Q;ENSP00000379581:E882Q;ENSP00000379587:E907Q;ENSP00000350791:E897Q;ENSP00000389542:E1062Q|.	ENSP00000350140:E1039Q|.	E|G	-|-	1|2	0|0	TRPM3|TRPM3	72395851|72395851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.735000|2.735000	0.93741|0.93741	0.637000|0.637000	0.83480|0.83480	GAG|GGA		0.458	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		31	533	0	0	0	1	0	31	533				
ELP4	26610	broad.mit.edu	37	11	31616324	31616324	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:31616324C>T	ENST00000350638.5	+	4	424	c.389C>T	c.(388-390)cCa>cTa	p.P130L	ELP4_ENST00000379163.5_Missense_Mutation_p.P130L|ELP4_ENST00000395934.2_Missense_Mutation_p.P130L	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	130					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TAGGAACTTCCAGCACCATTA	0.284																																						ENST00000395934.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20						c.(388-390)cCa>cTa		elongator acetyltransferase complex subunit 4							66.0	63.0	64.0					11																	31616324		1808	4066	5874	SO:0001583	missense	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31616324C>T	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.389C>T	11.37:g.31616324C>T	ENSP00000298937:p.Pro130Leu					ELP4_ENST00000379163.5_Missense_Mutation_p.P130L|ELP4_ENST00000350638.5_Missense_Mutation_p.P130L	p.P130L			Q96EB1	ELP4_HUMAN			4	396	+	Lung SC(675;0.225)		130					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.389C>T	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021798	0.75275	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	D;D;D	0.83755	-1.76;-1.76;-1.76	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.91372	0.7278	M	0.86805	2.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92248	0.5806	10	0.72032	D	0.01	-0.2929	12.3103	0.54925	0.0:0.9219:0.0:0.0781	.	130;130;130	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	L	130	ENSP00000298937:P130L;ENSP00000368461:P130L;ENSP00000379267:P130L	ENSP00000298937:P130L	P	+	2	0	ELP4	31572900	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.805000	0.62561	2.539000	0.85634	0.460000	0.39030	CCA		0.284	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		59	84	0	0	0	1	0	59	84				
HPS3	84343	broad.mit.edu	37	3	148872892	148872892	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:148872892A>T	ENST00000296051.2	+	8	1540		c.e8-1		HPS3_ENST00000460120.1_Splice_Site	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3						organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTTTGCTTTTAGTTCGAGAAA	0.303									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.e8-1		Hermansky-Pudlak syndrome 3							89.0	94.0	92.0					3																	148872892		2203	4300	6503	SO:0001630	splice_region_variant	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148872892A>T	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1401-1A>T	3.37:g.148872892A>T						HPS3_ENST00000460120.1_Splice_Site		NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		8	1540	+								A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Splice_Site	SNP	ENST00000296051.2	37		CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.755131	0.69648	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1558	0.59516	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HPS3	150355582	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	3.727000	0.54984	2.092000	0.63282	0.533000	0.62120	.		0.303	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	Intron	9	284	0	0	0	1	0	9	284				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	284802							g.chr20:29628243T>C			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.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	402	0	0	0	1	0	6	402				
IFITM1	8519	broad.mit.edu	37	11	314263	314263	+	Silent	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:314263C>A	ENST00000408968.3	+	1	411	c.93C>A	c.(91-93)acC>acA	p.T31T	IFITM1_ENST00000328221.5_Silent_p.T31T|IFITM1_ENST00000528780.1_Silent_p.T31T	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	31					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACAGCGAGACCTCCGTGCCCG	0.582																																						ENST00000408968.3																			0				large_intestine(1)|lung(3)	4						c.(91-93)acC>acA		interferon induced transmembrane protein 1							119.0	126.0	124.0					11																	314263		2045	4180	6225	SO:0001819	synonymous_variant	8519				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	g.chr11:314263C>A	J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"""CD molecules"""	5412	protein-coding gene	gene with protein product	"""interferon-induced transmembrane protein 1"""	604456	"""interferon induced transmembrane protein 1 (9-27)"""	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.93C>A	11.37:g.314263C>A						IFITM1_ENST00000528780.1_Silent_p.T31T|IFITM1_ENST00000328221.5_Silent_p.T31T	p.T31T	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	411	+		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	31					Q15322|Q53XZ0	Silent	SNP	ENST00000408968.3	37	c.93C>A	CCDS41584.1																																																																																				0.582	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383595.1	NM_003641		3	113	1	0	1	1	1	3	113				
GRM6	2916	broad.mit.edu	37	5	178410177	178410177	+	Missense_Mutation	SNP	C	C	T	rs151103990	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:178410177C>T	ENST00000517717.1	-	10	2208	c.2170G>A	c.(2170-2172)Gtg>Atg	p.V724M	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.V724M			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	724					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TAGTCAATCACGCTGTGTGGG	0.607																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(2170-2172)Gtg>Atg		glutamate receptor, metabotropic 6		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	58.0	49.0	52.0		2170	2.6	0.7	5	dbSNP_134	52	9,8591	7.1+/-27.0	0,9,4291	yes	missense	GRM6	NM_000843.3	21	0,10,6493	TT,TC,CC		0.1047,0.0227,0.0769	benign	724/878	178410177	10,12996	2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178410177C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2170G>A	5.37:g.178410177C>T	ENSP00000430767:p.Val724Met					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.V724M	p.V724M	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	9	2348	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	724						Missense_Mutation	SNP	ENST00000517717.1	37	c.2170G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133924	0.37630	2.27E-4	0.001047	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.89123	-2.47;-2.47	5.33	2.58	0.30949	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.86887	0.6041	L	0.38175	1.15	0.27099	N	0.962676	B;P	0.51351	0.434;0.944	B;P	0.55824	0.165;0.785	T	0.75969	-0.3130	9	0.33940	T	0.23	.	4.3315	0.11066	0.1577:0.5874:0.0:0.2549	.	724;18	O15303;Q5HYM4	GRM6_HUMAN;.	M	724	ENSP00000231188:V724M;ENSP00000430767:V724M	ENSP00000231188:V724M	V	-	1	0	GRM6	178342783	0.406000	0.25344	0.653000	0.29593	0.679000	0.39708	0.879000	0.28146	0.339000	0.23719	0.484000	0.47621	GTG		0.607	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			5	25	0	0	0	1	0	5	25				
SLC16A2	6567	broad.mit.edu	37	X	73745660	73745660	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:73745660G>T	ENST00000587091.1	+	4	1279	c.1102G>T	c.(1102-1104)Ggc>Tgc	p.G368C	SLC16A2_ENST00000276033.5_Missense_Mutation_p.G442C	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	368					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	GGCTACCTCAGGCCTTGGGCG	0.517																																						ENST00000276033.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21						c.(1324-1326)Ggc>Tgc		solute carrier family 16, member 2 (thyroid hormone transporter)	Pyruvic acid(DB00119)						192.0	162.0	172.0					X																	73745660		2203	4300	6503	SO:0001583	missense	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73745660G>T		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1102G>T	X.37:g.73745660G>T	ENSP00000465734:p.Gly368Cys					SLC16A2_ENST00000587091.1_Missense_Mutation_p.G368C	p.G442C			P36021	MOT8_HUMAN			4	1490	+			368					Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.1324G>T	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128383	0.77549	.	.	ENSG00000147100	ENST00000276033	T	0.57595	0.39	4.94	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.56381	0.1981	M	0.66378	2.025	0.80722	D	1	B	0.32382	0.368	B	0.35353	0.201	T	0.62067	-0.6932	10	0.66056	D	0.02	.	17.4803	0.87671	0.0:0.0:1.0:0.0	.	368	P36021	MOT8_HUMAN	C	442	ENSP00000276033:G442C	ENSP00000276033:G442C	G	+	1	0	SLC16A2	73662385	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.472000	0.97709	2.052000	0.61016	0.597000	0.82753	GGC		0.517	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			5	176	1	0	5.9392e-07	1	6.25549e-07	5	176				
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000534878.1_Splice_Site|SDHAF2_ENST00000537782.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000543044.1_Splice_Site|RP11-286N22.8_ENST00000544880.1_Splice_Site	NM_017841.2	NP_060311.1			succinate dehydrogenase complex assembly factor 2											large_intestine(3)|lung(4)|ovary(2)	9						TCTTGTTTTTAGTCTTTTTGC	0.403																																						ENST00000301761.2																			0				large_intestine(3)|lung(4)|ovary(2)	9						c.e3-1		succinate dehydrogenase complex assembly factor 2							96.0	93.0	94.0					11																	61205474		2202	4299	6501	SO:0001630	splice_region_variant	54949				mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding	g.chr11:61205474A>T	AK000494	CCDS8007.1	11q12.2	2014-09-17	2009-08-10	2009-08-10	ENSG00000167985	ENSG00000167985		"""Mitochondrial respiratory chain complex assembly factors"""	26034	protein-coding gene	gene with protein product		613019	"""paraganglioma or familial glomus tumors 2"", ""chromosome 11 open reading frame 79"""	PGL2, C11orf79		19628817	Standard	NM_017841		Approved	FLJ20487, SDH5	uc001nrt.3	Q9NX18	OTTHUMG00000168279	ENST00000301761.2:c.261-1A>T	11.37:g.61205474A>T						RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000534878.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000537782.1_Splice_Site		NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN			3	334	+									Splice_Site	SNP	ENST00000301761.2	37		CCDS8007.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500876	0.64298	.	.	ENSG00000256591;ENSG00000167985	ENST00000541135;ENST00000301761	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3309	0.74208	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SDHAF2;RP11-286N22.8	60962050	1.000000	0.71417	0.977000	0.42913	0.540000	0.34992	8.106000	0.89555	2.254000	0.74563	0.533000	0.62120	.		0.403	SDHAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398438.1	NM_017841	Intron	13	341	0	0	0	1	0	13	341				
ZNF79	7633	broad.mit.edu	37	9	130207140	130207140	+	Silent	SNP	A	A	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:130207140A>G	ENST00000342483.5	+	5	1567	c.1161A>G	c.(1159-1161)aaA>aaG	p.K387K	ZNF79_ENST00000543471.1_Silent_p.K363K|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	387					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)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTGGGGAGAAACCCTACAAGT	0.532																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(1159-1161)aaA>aaG		zinc finger protein 79							75.0	72.0	73.0					9																	130207140		2203	4300	6503	SO:0001819	synonymous_variant	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130207140A>G	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1161A>G	9.37:g.130207140A>G						ZNF79_ENST00000543471.1_Silent_p.K363K	p.K387K	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1567	+			387					Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	c.1161A>G	CCDS6871.1																																																																																				0.532	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		9	240	0	0	0	1	0	9	240				
BIRC6	57448	broad.mit.edu	37	2	32832520	32832520	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:32832520A>T	ENST00000421745.2	+	72	14204		c.e72-1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTATTCTTTAGGTGTTGGTG	0.408																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.e72-1		baculoviral IAP repeat containing 6							165.0	165.0	165.0					2																	32832520		2203	4300	6503	SO:0001630	splice_region_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32832520A>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.14071-1A>T	2.37:g.32832520A>T								NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			72	14204	+	Acute lymphoblastic leukemia(172;0.155)							Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37		CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052658	0.55218	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2661	0.73663	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32686024	1.000000	0.71417	0.933000	0.37362	0.419000	0.31324	9.335000	0.96500	1.994000	0.58287	0.477000	0.44152	.		0.408	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron	10	431	0	0	0	1	0	10	431				
KIF21A	55605	broad.mit.edu	37	12	39757017	39757017	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:39757017T>A	ENST00000361418.5	-	7	919		c.e7-2		KIF21A_ENST00000395670.3_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGTGCCAACTAAAAGAAAGA	0.333																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.e7-2		kinesin family member 21A							95.0	93.0	94.0					12																	39757017		2203	4300	6503	SO:0001630	splice_region_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39757017T>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.904-2A>T	12.37:g.39757017T>A						KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site				Q7Z4S6	KI21A_HUMAN			7	1323	-		Lung NSC(34;0.179)|all_lung(34;0.213)						A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Splice_Site	SNP	ENST00000361418.5	37		CCDS53776.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306185	0.60305	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7019	0.69162	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF21A	38043284	1.000000	0.71417	0.991000	0.47740	0.633000	0.38033	3.341000	0.52151	1.880000	0.54463	0.460000	0.39030	.		0.333	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	Intron	7	285	0	0	0	1	0	7	285				
BTG4	54766	broad.mit.edu	37	11	111369433	111369433	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:111369433A>T	ENST00000356018.2	-	2	268	c.69T>A	c.(67-69)agT>agA	p.S23R	BTG4_ENST00000525791.1_Missense_Mutation_p.S23R	NM_017589.3	NP_060059.1	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	23					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|neuron differentiation (GO:0030182)					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		TTTGCTGTTTACTTAGTTTAT	0.363																																						ENST00000525791.1																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(67-69)agT>agA		B-cell translocation gene 4							130.0	109.0	116.0					11																	111369433		2201	4297	6498	SO:0001583	missense	54766				cell cycle arrest|negative regulation of cell proliferation|neuron differentiation			g.chr11:111369433A>T	AJ271351	CCDS8346.1	11q23	2008-05-27				ENSG00000137707			13862	protein-coding gene	gene with protein product		605673				10995567	Standard	NM_017589		Approved	PC3B	uc001plj.3	Q9NY30		ENST00000356018.2:c.69T>A	11.37:g.111369433A>T	ENSP00000348300:p.Ser23Arg					BTG4_ENST00000356018.2_Missense_Mutation_p.S23R	p.S23R			Q9NY30	BTG4_HUMAN		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)	2	253	-		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	23					Q8NEH7	Missense_Mutation	SNP	ENST00000356018.2	37	c.69T>A	CCDS8346.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.131335	0.56828	.	.	ENSG00000137707	ENST00000356018;ENST00000525791;ENST00000456861	.	.	.	5.47	1.97	0.26223	Anti-proliferative protein (3);	0.262037	0.49916	D	0.000135	T	0.56834	0.2012	L	0.52905	1.665	0.39980	D	0.974909	B;D	0.56968	0.221;0.978	B;P	0.60345	0.285;0.873	T	0.53012	-0.8498	9	0.29301	T	0.29	.	6.9866	0.24731	0.5404:0.0:0.4596:0.0	.	23;23	Q8NEH7;Q9NY30	.;BTG4_HUMAN	R	23	.	ENSP00000348300:S23R	S	-	3	2	BTG4	110874643	0.999000	0.42202	0.995000	0.50966	0.933000	0.57130	1.519000	0.35888	0.392000	0.25172	-0.376000	0.06991	AGT		0.363	BTG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391177.1			5	149	0	0	0	1	0	5	149				
MORF4L1	10933	broad.mit.edu	37	15	79186408	79186408	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:79186408C>T	ENST00000331268.5	+	11	959	c.755C>T	c.(754-756)gCg>gTg	p.A252V	MORF4L1_ENST00000559345.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000558746.1_Missense_Mutation_p.A186V|MORF4L1_ENST00000558502.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.A238V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.A213V|MORF4L1_ENST00000561171.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	252	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AGGGAGTATGCGGTTAATGAA	0.333																																						ENST00000331268.5																			0				breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						c.(754-756)gCg>gTg		mortality factor 4 like 1							95.0	102.0	99.0					15																	79186408		2196	4293	6489	SO:0001583	missense	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79186408C>T	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.755C>T	15.37:g.79186408C>T	ENSP00000331310:p.Ala252Val					MORF4L1_ENST00000559345.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.A213V|MORF4L1_ENST00000558502.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.A238V|MORF4L1_ENST00000558746.1_Missense_Mutation_p.A186V|MORF4L1_ENST00000561171.1_Intron	p.A252V	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN			11	959	+			252			Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	ENST00000331268.5	37	c.755C>T	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761130	0.69763	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.08458	3.09;3.09;3.09	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.11580	0.0282	L	0.48174	1.505	0.80722	D	1	D;D	0.67145	0.996;0.978	P;B	0.48840	0.592;0.366	T	0.20107	-1.0285	10	0.09590	T	0.72	-22.9863	15.8341	0.78787	0.0:1.0:0.0:0.0	.	213;252	Q9UBU8-2;Q9UBU8	.;MO4L1_HUMAN	V	238;213;252	ENSP00000368850:A238V;ENSP00000408880:A213V;ENSP00000331310:A252V	ENSP00000331310:A252V	A	+	2	0	MORF4L1	76973463	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.604000	0.82830	2.123000	0.65237	0.650000	0.86243	GCG		0.333	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791		4	150	0	0	0	1	0	4	150				
ASAP1	50807	broad.mit.edu	37	8	131127939	131127939	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr8:131127939C>T	ENST00000518721.1	-	23	2334	c.2107G>A	c.(2107-2109)Gta>Ata	p.V703I	ASAP1_ENST00000357668.1_Missense_Mutation_p.V703I	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	703					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCATATTCTACGTGGACGTGT	0.403																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2107-2109)Gta>Ata		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							269.0	239.0	249.0					8																	131127939		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131127939C>T	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2107G>A	8.37:g.131127939C>T	ENSP00000429900:p.Val703Ile					ASAP1_ENST00000518721.1_Missense_Mutation_p.V703I	p.V703I			Q9ULH1	ASAP1_HUMAN			22	2134	-			703					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.2107G>A	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.803533|4.803533	0.90623|0.90623	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124;ENST00000519483|ENST00000343135;ENST00000357668;ENST00000518721	.|T;T	.|0.07688	.|3.17;3.17	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Ankyrin repeat-containing domain (1);	.|0.119358	.|0.56097	.|D	.|0.000035	T|T	0.23289|0.23289	0.0563|0.0563	L|L	0.49640|0.49640	1.575|1.575	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.63880	.|0.988;0.988;0.993	.|D;D;D	.|0.74023	.|0.97;0.97;0.982	T|T	0.00692|0.00692	-1.1607|-1.1607	5|10	.|0.26408	.|T	.|0.33	.|.	18.0242|18.0242	0.89263|0.89263	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|703;703;706	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	H|I	523;116|706;703;703	.|ENSP00000350297:V703I;ENSP00000429900:V703I	.|ENSP00000344591:V706I	R|V	-|-	2|1	0|0	ASAP1|ASAP1	131197121|131197121	1.000000|1.000000	0.71417|0.71417	0.918000|0.918000	0.36340|0.36340	0.907000|0.907000	0.53573|0.53573	7.729000|7.729000	0.84864|0.84864	2.581000|2.581000	0.87130|0.87130	0.650000|0.650000	0.86243|0.86243	CGT|GTA		0.403	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		24	287	0	0	0	1	0	24	287				
IGSF5	150084	broad.mit.edu	37	21	41142841	41142841	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr21:41142841A>T	ENST00000380588.4	+	4	521		c.e4-1		IGSF5_ENST00000479378.1_Splice_Site	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5						single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TTTCTTCTTTAGTTATGGGAG	0.388																																						ENST00000380588.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23						c.e4-1		immunoglobulin superfamily, member 5							47.0	45.0	46.0					21																	41142841		2203	4300	6503	SO:0001630	splice_region_variant	150084					integral to membrane|tight junction		g.chr21:41142841A>T		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.419-1A>T	21.37:g.41142841A>T						IGSF5_ENST00000479378.1_Splice_Site		NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN			4	521	+		Prostate(19;5.35e-06)							Splice_Site	SNP	ENST00000380588.4	37		CCDS33562.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548062	0.65311	.	.	ENSG00000183067	ENST00000380588	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4568	0.61204	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IGSF5	40064711	0.998000	0.40836	0.918000	0.36340	0.882000	0.50991	5.040000	0.64191	2.251000	0.74343	0.528000	0.53228	.		0.388	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1		Intron	6	127	0	0	0	1	0	6	127				
TP53	7157	broad.mit.edu	37	17	7579699	7579699	+	Splice_Site	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:7579699C>A	ENST00000269305.4	-	3	286		c.e3+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTTGTCCTTACCAGAACGTTG	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)	liver(8)|bone(4)|central_nervous_system(2)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e3+1	Other conserved DNA damage response genes	tumor protein p53							41.0	42.0	42.0					17																	7579699		2202	4298	6500	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579699C>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.96+1G>T	17.37:g.7579699C>A		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_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site		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)	3	229	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297523	0.81025	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6079	0.51043	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520424	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.928000	0.40104	2.466000	0.83321	0.561000	0.74099	.		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	183	28	1	0	4.76554e-48	1	5.20409e-48	183	28				
RPTOR	57521	broad.mit.edu	37	17	78854281	78854281	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:78854281T>C	ENST00000306801.3	+	14	1938	c.1576T>C	c.(1576-1578)Tac>Cac	p.Y526H	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	526					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCGGACCCCTACATGCCAGT	0.632																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(1576-1578)Tac>Cac		regulatory associated protein of MTOR, complex 1							90.0	62.0	71.0					17																	78854281		2203	4299	6502	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78854281T>C		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1576T>C	17.37:g.78854281T>C	ENSP00000307272:p.Tyr526His					RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000575542.1_3'UTR	p.Y526H	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			14	1938	+			526					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.1576T>C	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.489360	0.44249	.	.	ENSG00000141564	ENST00000306801	T	0.33216	1.42	4.87	4.87	0.63330	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.23806	0.0576	L	0.27053	0.805	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.03193	-1.1062	10	0.38643	T	0.18	.	14.7688	0.69659	0.0:0.0:0.0:1.0	.	526	Q8N122	RPTOR_HUMAN	H	526	ENSP00000307272:Y526H	ENSP00000307272:Y526H	Y	+	1	0	RPTOR	76468876	1.000000	0.71417	0.901000	0.35422	0.935000	0.57460	7.437000	0.80417	1.942000	0.56320	0.460000	0.39030	TAC		0.632	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		2	13	0	0	0	1	0	2	13				
ANKRD30A	91074	broad.mit.edu	37	10	37431050	37431050	+	Missense_Mutation	SNP	G	G	C	rs201391167		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr10:37431050G>C	ENST00000602533.1	+	7	1156	c.1057G>C	c.(1057-1059)Gca>Cca	p.A353P	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A353P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	409					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A353P(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGGCAGCAAAAGG	0.408																																						ENST00000374660.1																			1	Substitution - Missense(1)	p.A353P(1)	lung(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1057-1059)Gca>Cca		ankyrin repeat domain 30A							102.0	102.0	102.0					10																	37431050		1853	4086	5939	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431050G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1057G>C	10.37:g.37431050G>C	ENSP00000473551:p.Ala353Pro					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P	p.A353P			Q9BXX3	AN30A_HUMAN			7	1156	+			409					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1057G>C		.	.	.	.	.	.	.	.	.	.	.	2.178	-0.388156	0.04932	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.39592	1.19;1.07	.	.	.	.	.	.	.	.	T	0.28300	0.0699	N	0.08118	0	0.09310	N	1	P	0.48350	0.909	P	0.51297	0.665	T	0.16188	-1.0411	7	0.33141	T	0.24	.	.	.	.	.	409	Q9BXX3	AN30A_HUMAN	P	353	ENSP00000354432:A353P;ENSP00000363792:A353P	ENSP00000354432:A353P	A	+	1	0	ANKRD30A	37471056	0.782000	0.28689	0.179000	0.23059	0.179000	0.23085	-0.616000	0.05591	0.088000	0.17205	0.089000	0.15464	GCA		0.408	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		3	106	0	0	0	1	0	3	106				
LTBP4	8425	broad.mit.edu	37	19	41133075	41133075	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:41133075G>A	ENST00000308370.7	+	32	4379	c.4379G>A	c.(4378-4380)cGc>cAc	p.R1460H	LTBP4_ENST00000204005.9_Missense_Mutation_p.R1423H|LTBP4_ENST00000545697.1_Missense_Mutation_p.R828H|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1393H	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1461	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCTTCGCCCGCCGGGAGGCT	0.657																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(4378-4380)cGc>cAc		latent transforming growth factor beta binding protein 4							14.0	21.0	19.0					19																	41133075		1922	4104	6026	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41133075G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4379G>A	19.37:g.41133075G>A	ENSP00000311905:p.Arg1460His					LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1393H|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1423H|LTBP4_ENST00000545697.1_Missense_Mutation_p.R828H|LTBP4_ENST00000602240.1_3'UTR	p.R1460H	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		32	4379	+			1461			Pro-rich.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.4379G>A		.	.	.	.	.	.	.	.	.	.	G	19.10	3.761988	0.69763	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	T;D;T;T	0.83506	-1.38;-1.73;-1.39;-1.37	4.71	4.71	0.59529	.	0.221145	0.23317	N	0.049498	D	0.85008	0.5599	.	.	.	0.33197	D	0.551592	D;D;P;D;D;D	0.71674	0.986;0.986;0.955;0.975;0.975;0.998	P;P;B;P;P;P	0.54270	0.674;0.674;0.379;0.474;0.474;0.747	D	0.87226	0.2257	9	0.33940	T	0.23	.	13.034	0.58859	0.0:0.0:1.0:0.0	.	221;473;681;1393;1461;1423	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	H	1423;828;1460;1393;221	ENSP00000204005:R1423H;ENSP00000441054:R828H;ENSP00000311905:R1460H;ENSP00000380031:R1393H	ENSP00000204005:R1423H	R	+	2	0	LTBP4	45824915	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.191000	0.42640	2.441000	0.82636	0.563000	0.77884	CGC		0.657	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		4	4	0	0	0	1	0	4	4				
GSTCD	79807	broad.mit.edu	37	4	106640215	106640215	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:106640215A>T	ENST00000515279.1	+	3	646		c.e3-1		GSTCD_ENST00000394728.3_Splice_Site|GSTCD_ENST00000394730.3_Splice_Site|GSTCD_ENST00000507281.1_Splice_Site|GSTCD_ENST00000360505.5_Splice_Site|GSTCD_ENST00000515255.1_Intron			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing							extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTTGTTTTGTAGGTTAGTCAG	0.338																																						ENST00000515279.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14						c.e3-1		glutathione S-transferase, C-terminal domain containing							54.0	62.0	59.0					4																	106640215		2192	4295	6487	SO:0001630	splice_region_variant	79807					cytoplasm	rRNA methyltransferase activity	g.chr4:106640215A>T	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.427-1A>T	4.37:g.106640215A>T						GSTCD_ENST00000507281.1_Splice_Site|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Splice_Site|GSTCD_ENST00000360505.5_Splice_Site|GSTCD_ENST00000394728.3_Splice_Site				Q8NEC7	GSTCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)	3	646	+		Hepatocellular(203;0.217)						A8K8J0|A8MVD3|H9KV97|Q9H8S3	Splice_Site	SNP	ENST00000515279.1	37		CCDS43257.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.383790	0.61845	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000510865;ENST00000509336;ENST00000394728	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0247	0.71659	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GSTCD	106859664	1.000000	0.71417	0.983000	0.44433	0.779000	0.44077	8.400000	0.90200	2.133000	0.65898	0.482000	0.46254	.		0.338	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751	Intron	7	270	0	0	0	1	0	7	270				
CSMD3	114788	broad.mit.edu	37	8	113599447	113599447	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr8:113599447C>T	ENST00000297405.5	-	23	3977	c.3733G>A	c.(3733-3735)Gca>Aca	p.A1245T	CSMD3_ENST00000343508.3_Missense_Mutation_p.A1205T|CSMD3_ENST00000455883.2_Missense_Mutation_p.A1141T|CSMD3_ENST00000352409.3_Missense_Mutation_p.A1245T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1245	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTATTCGTTGCAGATGCACCA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(3733-3735)Gca>Aca		CUB and Sushi multiple domains 3							109.0	104.0	106.0					8																	113599447		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113599447C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3733G>A	8.37:g.113599447C>T	ENSP00000297405:p.Ala1245Thr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.A1245T|CSMD3_ENST00000455883.2_Missense_Mutation_p.A1141T|CSMD3_ENST00000343508.3_Missense_Mutation_p.A1205T	p.A1245T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			23	3977	-			1245			CUB 7.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3733G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964923	0.34659	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	4.14	4.14	0.48551	Complement control module (1);CUB (5);	0.167271	0.40640	N	0.001057	T	0.19248	0.0462	N	0.20986	0.625	0.28332	N	0.921729	B;B;B	0.12013	0.005;0.002;0.001	B;B;B	0.14578	0.007;0.011;0.005	T	0.08911	-1.0699	10	0.21014	T	0.42	.	11.088	0.48099	0.0:0.8999:0.0:0.1001	.	1141;1245;1205	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	1205;1245;585;1141;1245	ENSP00000345799:A1205T;ENSP00000297405:A1245T;ENSP00000341558:A585T;ENSP00000412263:A1141T;ENSP00000343124:A1245T	ENSP00000297405:A1245T	A	-	1	0	CSMD3	113668623	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.625000	0.61262	2.303000	0.77524	0.591000	0.81541	GCA		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		5	101	0	0	0	1	0	5	101				
CSTA	1475	broad.mit.edu	37	3	122056392	122056392	+	Splice_Site	SNP	A	A	T	rs398122804		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:122056392A>T	ENST00000264474.3	+	2	115		c.e2-1		CSTA_ENST00000479204.1_Splice_Site	NM_005213.3	NP_005204.1	P01040	CYTA_HUMAN	cystatin A (stefin A)						keratinocyte differentiation (GO:0030216)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|peptide cross-linking (GO:0018149)|single organismal cell-cell adhesion (GO:0016337)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		TCTTTTCTTTAGGTTAAACCA	0.348																																					Pancreas(26;157 1503 12440)	ENST00000479204.1																			0				large_intestine(2)|lung(2)	4						c.e2-1		cystatin A (stefin A)							62.0	64.0	63.0					3																	122056392		2203	4300	6503	SO:0001630	splice_region_variant	1475				keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity	g.chr3:122056392A>T		CCDS3011.1	3q21	2008-04-15			ENSG00000121552	ENSG00000121552			2481	protein-coding gene	gene with protein product		184600		STF1, STFA		1674139	Standard	NM_005213		Approved		uc003eex.3	P01040	OTTHUMG00000159488	ENST00000264474.3:c.67-1A>T	3.37:g.122056392A>T						CSTA_ENST00000264474.3_Splice_Site				P01040	CYTA_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	2	97	+								Q6IB90	Splice_Site	SNP	ENST00000264474.3	37		CCDS3011.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.519679	0.27211	.	.	ENSG00000121552	ENST00000264474;ENST00000479204	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1556	0.42820	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CSTA	123539082	0.997000	0.39634	0.661000	0.29709	0.307000	0.27823	4.713000	0.61895	1.910000	0.55303	0.454000	0.30748	.		0.348	CSTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355751.1	NM_005213	Intron	7	343	0	0	0	1	0	7	343				
ZNF43	7594	broad.mit.edu	37	19	21991000	21991000	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:21991000T>C	ENST00000354959.4	-	4	2008	c.1839A>G	c.(1837-1839)aaA>aaG	p.K613K	ZNF43_ENST00000598381.1_Silent_p.K607K|ZNF43_ENST00000595461.1_Silent_p.K607K|ZNF43_ENST00000594012.1_Silent_p.K607K	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	613					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TATGAATTTTTTTATGTGTAG	0.338																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1819-1821)aaA>aaG		zinc finger protein 43							50.0	52.0	52.0					19																	21991000		2203	4297	6500	SO:0001819	synonymous_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991000T>C	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1839A>G	19.37:g.21991000T>C						ZNF43_ENST00000598381.1_Silent_p.K607K|ZNF43_ENST00000595461.1_Silent_p.K607K|ZNF43_ENST00000354959.4_Silent_p.K613K	p.K607K	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2335	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	613					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	c.1821A>G	CCDS12413.2																																																																																				0.338	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		3	121	0	0	0	1	0	3	121				
SLITRK1	114798	broad.mit.edu	37	13	84454064	84454064	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr13:84454064G>A	ENST00000377084.2	-	1	2464	c.1579C>T	c.(1579-1581)Cac>Tac	p.H527Y		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	527					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGGTTTCCGTGGAGGTCTATC	0.547																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1579-1581)Cac>Tac		SLIT and NTRK-like family, member 1							54.0	54.0	54.0					13																	84454064		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454064G>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1579C>T	13.37:g.84454064G>A	ENSP00000366288:p.His527Tyr						p.H527Y	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2464	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	527					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1579C>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383803	0.61845	.	.	ENSG00000178235	ENST00000377084	T	0.51817	0.69	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	N	0.25201	0.72	0.80722	D	1	B	0.22909	0.077	B	0.20955	0.032	T	0.12319	-1.0552	10	0.39692	T	0.17	-14.1358	17.693	0.88273	0.0:0.0:1.0:0.0	.	527	Q96PX8	SLIK1_HUMAN	Y	527	ENSP00000366288:H527Y	ENSP00000366288:H527Y	H	-	1	0	SLITRK1	83352065	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.872000	0.87187	2.603000	0.88011	0.655000	0.94253	CAC		0.547	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		34	6	0	0	0	1	0	34	6				
SENP6	26054	broad.mit.edu	37	6	76380267	76380267	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:76380267A>T	ENST00000447266.2	+	11	1702		c.e11-1		SENP6_ENST00000541192.1_Splice_Site|SENP6_ENST00000327284.8_Splice_Site|SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000370014.3_Splice_Site	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6						protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTTCCTTTTTAGTTTGGCAAT	0.323																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e11-1		SUMO1/sentrin specific peptidase 6							74.0	65.0	68.0					6																	76380267		1803	4074	5877	SO:0001630	splice_region_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76380267A>T		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1225-1A>T	6.37:g.76380267A>T						SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000541192.1_Splice_Site|SENP6_ENST00000327284.8_Splice_Site|SENP6_ENST00000447266.2_Splice_Site		NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			11	1843	+		all_hematologic(105;0.189)						A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Splice_Site	SNP	ENST00000447266.2	37		CCDS47454.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921043	0.73213	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8735	0.79141	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SENP6	76436987	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.414000	0.73318	2.149000	0.67028	0.533000	0.62120	.		0.323	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571	Intron	4	89	0	0	0	1	0	4	89				
FAM122C	159091	broad.mit.edu	37	X	133948799	133948799	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:133948799A>T	ENST00000370784.4	+	2	516		c.e2-1		FAM122C_ENST00000414371.2_Splice_Site|FAM122C_ENST00000370785.3_Splice_Site|FAM122C_ENST00000445123.1_Splice_Site	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTCTTTTTAGTTTTAATTC	0.338																																						ENST00000445123.1																			0				endometrium(2)|kidney(1)|lung(2)	5						c.e3-1		family with sequence similarity 122C							60.0	60.0	60.0					X																	133948799		2202	4300	6502	SO:0001630	splice_region_variant	159091							g.chrX:133948799A>T	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.111-1A>T	X.37:g.133948799A>T						FAM122C_ENST00000414371.2_Splice_Site|FAM122C_ENST00000370785.3_Splice_Site|FAM122C_ENST00000370784.4_Splice_Site				Q6P4D5	F222C_HUMAN			3	274	+	Acute lymphoblastic leukemia(192;0.000127)							F5H036|Q8WVK9	Splice_Site	SNP	ENST00000370784.4	37		CCDS55501.1	.	.	.	.	.	.	.	.	.	.	a	10.31	1.313542	0.23908	.	.	ENSG00000156500	ENST00000414371;ENST00000370784;ENST00000370785	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7226	0.46048	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM122C	133776465	1.000000	0.71417	0.663000	0.29738	0.151000	0.21798	4.668000	0.61568	1.800000	0.52685	0.466000	0.42574	.		0.338	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819	Intron	8	204	0	0	0	1	0	8	204				
SLC12A2	6558	broad.mit.edu	37	5	127507357	127507357	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:127507357A>T	ENST00000262461.2	+	19	2912		c.e19-1		SLC12A2_ENST00000343225.4_Splice_Site	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2						ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	ttttgttcttAGTGATGCTTT	0.269																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.e19-1		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						81.0	88.0	86.0					5																	127507357		2203	4296	6499	SO:0001630	splice_region_variant	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127507357A>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2724-1A>T	5.37:g.127507357A>T						SLC12A2_ENST00000343225.4_Splice_Site		NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	19	2912	+		all_cancers(142;0.0972)|Prostate(80;0.151)						Q8N713|Q8WWH7	Splice_Site	SNP	ENST00000262461.2	37		CCDS4144.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.093048	0.56075	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1644	0.72811	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC12A2	127535256	1.000000	0.71417	0.935000	0.37517	0.585000	0.36419	8.508000	0.90525	2.232000	0.73038	0.528000	0.53228	.		0.269	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	Intron	7	383	0	0	0	1	0	7	383				
CNTNAP4	85445	broad.mit.edu	37	16	76350229	76350229	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:76350229A>T	ENST00000476707.1	+	1	153	c.14A>T	c.(13-15)tAc>tTc	p.Y5F	CNTNAP4_ENST00000478060.1_Intron|CNTNAP4_ENST00000307431.8_Intron|CNTNAP4_ENST00000377504.4_Intron|CNTNAP4_ENST00000469589.1_Intron			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	0					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTGTTGTTTTACTTGTTGGTT	0.383																																						ENST00000476707.1																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(13-15)tAc>tTc		contactin associated protein-like 4																																				SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76350229A>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.14A>T	16.37:g.76350229A>T	ENSP00000417628:p.Tyr5Phe					CNTNAP4_ENST00000469589.1_Intron|CNTNAP4_ENST00000307431.8_Intron|CNTNAP4_ENST00000377504.4_Intron|CNTNAP4_ENST00000478060.1_Intron	p.Y5F			Q9C0A0	CNTP4_HUMAN			1	153	+			0					E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.14A>T		.	.	.	.	.	.	.	.	.	.	A	6.169	0.399407	0.11696	.	.	ENSG00000152910	ENST00000476707	D	0.88509	-2.39	4.35	-4.41	0.03590	.	.	.	.	.	T	0.71953	0.3401	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.58165	-0.7684	8	0.17832	T	0.49	.	1.0948	0.01671	0.3746:0.2756:0.21:0.1398	.	5	E9PDN6	.	F	5	ENSP00000417628:Y5F	ENSP00000417628:Y5F	Y	+	2	0	CNTNAP4	74907730	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.686000	0.05161	-0.723000	0.04915	-0.242000	0.12053	TAC		0.383	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		3	23	0	0	0	1	0	3	23				
LDHC	3948	broad.mit.edu	37	11	18451282	18451282	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:18451282A>T	ENST00000541669.1	+	4	355		c.e4-1		LDHC_ENST00000544105.1_Splice_Site|LDHC_ENST00000536880.1_Intron|LDHC_ENST00000535809.1_Splice_Site|LDHC_ENST00000537486.1_Splice_Site|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000280704.4_Splice_Site			P07864	LDHC_HUMAN	lactate dehydrogenase C						ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTCCTTTTTAGATTACAGTG	0.383																																						ENST00000541669.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e4-1		lactate dehydrogenase C	NADH(DB00157)						61.0	53.0	56.0					11																	18451282		2199	4293	6492	SO:0001630	splice_region_variant	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18451282A>T	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.245-1A>T	11.37:g.18451282A>T						LDHC_ENST00000536880.1_Intron|LDHC_ENST00000535809.1_Splice_Site|LDHC_ENST00000280704.4_Splice_Site|LDHC_ENST00000537486.1_Splice_Site|LDHC_ENST00000544105.1_Splice_Site|LDHC_ENST00000546146.1_Intron				P07864	LDHC_HUMAN			4	355	+								D3DQY4|Q6GSG8|Q7Z7J4	Splice_Site	SNP	ENST00000541669.1	37		CCDS7840.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.748071	0.49257	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000537486;ENST00000544105;ENST00000535809	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9928	0.64378	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LDHC	18407858	1.000000	0.71417	0.773000	0.31616	0.016000	0.09150	9.087000	0.94110	1.896000	0.54893	0.454000	0.30748	.		0.383	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448	Intron	6	191	0	0	0	1	0	6	191				
RALGPS2	55103	broad.mit.edu	37	1	178802557	178802557	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:178802557A>T	ENST00000367635.3	+	8	818		c.e8-1		RALGPS2_ENST00000367634.2_Splice_Site	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2						small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTTGTTTTTTAGTTATTAAGT	0.259																																						ENST00000367635.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.e8-1		Ral GEF with PH domain and SH3 binding motif 2							37.0	39.0	38.0					1																	178802557		2200	4282	6482	SO:0001630	splice_region_variant	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178802557A>T	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.481-1A>T	1.37:g.178802557A>T						RALGPS2_ENST00000367634.2_Splice_Site|RALGPS2_ENST00000324778.4_Splice_Site		NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN			8	818	+								B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Splice_Site	SNP	ENST00000367635.3	37		CCDS1325.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120441	0.77323	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	.	.	.	5.98	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6582	0.51330	0.8547:0.0:0.0:0.1453	.	.	.	.	.	-1	.	.	.	+	.	.	RALGPS2	177069180	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.829000	0.92055	1.061000	0.40601	0.528000	0.53228	.		0.259	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663	Intron	4	47	0	0	0	1	0	4	47				
CHL1	10752	broad.mit.edu	37	3	443307	443307	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:443307A>T	ENST00000256509.2	+	27	4027		c.e27-1		CHL1_ENST00000397491.2_Splice_Site	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCTCTTTTTTAGTTAAAGAAA	0.328																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.e27-1		cell adhesion molecule L1-like							52.0	56.0	54.0					3																	443307		2203	4298	6501	SO:0001630	splice_region_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:443307A>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3386-1A>T	3.37:g.443307A>T						CHL1_ENST00000397491.2_Splice_Site		NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	27	4027	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)						Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Splice_Site	SNP	ENST00000256509.2	37		CCDS2556.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.307849	0.40795	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000445697	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0817	0.72119	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHL1	418307	1.000000	0.71417	0.885000	0.34714	0.299000	0.27559	8.233000	0.89799	1.960000	0.56953	0.482000	0.46254	.		0.328	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	Intron	4	104	0	0	0	1	0	4	104				
EXOG	9941	broad.mit.edu	37	3	38565673	38565673	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:38565673G>T	ENST00000287675.5	+	6	1023	c.927G>T	c.(925-927)ttG>ttT	p.L309F	EXOG_ENST00000422077.2_Missense_Mutation_p.L259F|EXOG_ENST00000358249.2_Intron	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	309				L -> S (in Ref. 2; BAF82796). {ECO:0000305}.	DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						AGTTCACCTTGTACTTGAGTA	0.428																																						ENST00000287675.5																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						c.(925-927)ttG>ttT		endo/exonuclease (5'-3'), endonuclease G-like							114.0	122.0	120.0					3																	38565673		2203	4300	6503	SO:0001583	missense	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38565673G>T	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.927G>T	3.37:g.38565673G>T	ENSP00000287675:p.Leu309Phe					EXOG_ENST00000358249.2_Intron|EXOG_ENST00000422077.2_Missense_Mutation_p.L259F	p.L309F	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN			6	1023	+			309	L -> S (in Ref. 2; BAF82796).				A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	SNP	ENST00000287675.5	37	c.927G>T	CCDS2680.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292468	0.59976	.	.	ENSG00000157036	ENST00000287675;ENST00000422077	T;T	0.49432	0.78;0.83	5.54	1.74	0.24563	.	0.000000	0.64402	D	0.000005	T	0.58609	0.2134	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74674	0.984;0.957	T	0.52411	-0.8579	10	0.32370	T	0.25	-15.2137	6.9131	0.24346	0.1964:0.0:0.68:0.1236	.	259;309	Q9Y2C4-4;Q9Y2C4	.;EXOG_HUMAN	F	309;259	ENSP00000287675:L309F;ENSP00000404305:L259F	ENSP00000287675:L309F	L	+	3	2	EXOG	38540677	1.000000	0.71417	0.996000	0.52242	0.833000	0.47200	2.116000	0.41930	0.136000	0.18733	-0.768000	0.03414	TTG		0.428	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		8	488	1	0	3.09899e-07	1	3.28345e-07	8	488				
SYNPO2	171024	broad.mit.edu	37	4	119952245	119952245	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:119952245C>G	ENST00000429713.2	+	4	2497	c.2315C>G	c.(2314-2316)cCa>cGa	p.P772R	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.P772R|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P772R	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	772	Pro-rich.					actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCTCCCAACCAGTAACTCCA	0.557																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2314-2316)cCa>cGa		synaptopodin 2							105.0	106.0	105.0					4																	119952245		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119952245C>G	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2315C>G	4.37:g.119952245C>G	ENSP00000395143:p.Pro772Arg					SYNPO2_ENST00000434046.2_Missense_Mutation_p.P772R|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P772R|SYNPO2_ENST00000448416.2_Intron	p.P772R	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			4	2511	+			772			Pro-rich.		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.2315C>G	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708813	0.48517	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.09350	2.99;3.01;3.0	5.41	5.41	0.78517	.	0.103083	0.43579	D	0.000544	T	0.19967	0.0480	L	0.41236	1.265	0.80722	D	1	D;D;D;D	0.71674	0.996;0.998;0.996;0.996	P;D;P;P	0.63381	0.823;0.914;0.823;0.823	T	0.00426	-1.1746	9	.	.	.	-16.2351	11.2146	0.48819	0.0:0.9085:0.0:0.0915	.	772;772;772;772	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	R	772	ENSP00000306015:P772R;ENSP00000395143:P772R;ENSP00000390965:P772R	.	P	+	2	0	SYNPO2	120171693	0.978000	0.34361	0.622000	0.29159	0.994000	0.84299	5.027000	0.64109	2.552000	0.86080	0.655000	0.94253	CCA		0.557	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			6	280	0	0	0	1	0	6	280				
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587													.|||	668	0.133387	0.0386	0.1499	5008	,	,		18807	0.4087		0.0537	False		,,,				2504	0.0481					ENST00000567960.1																			3	Substitution - Missense(3)	p.R105H(3)	urinary_tract(1)|prostate(1)|kidney(1)																																																197331							g.chr16:90161578G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161578G>A						TUBB8P7_ENST00000564451.1_RNA								0	314	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.587	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	45	0	0	0	1	0	4	45				
NPY2R	4887	broad.mit.edu	37	4	156135042	156135042	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:156135042A>T	ENST00000329476.3	+	2	441		c.e2-1		NPY2R_ENST00000506608.1_Splice_Site	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	ttTTCTTTTTAGGTTGTAGAC	0.398																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.e2-1		neuropeptide Y receptor Y2							44.0	46.0	45.0					4																	156135042		2202	4298	6500	SO:0001630	splice_region_variant	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135042A>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.-48-1A>T	4.37:g.156135042A>T						NPY2R_ENST00000506608.1_Splice_Site		NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	441	+	all_hematologic(180;0.24)	Renal(120;0.0854)						Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Splice_Site	SNP	ENST00000329476.3	37		CCDS3791.1																																																																																				0.398	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910	Intron	4	109	0	0	0	1	0	4	109				
APAF1	317	broad.mit.edu	37	12	99076919	99076919	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:99076919A>T	ENST00000551964.1	+	15	2782		c.e15-1		APAF1_ENST00000549007.1_Splice_Site|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Splice_Site|APAF1_ENST00000547045.1_Splice_Site|APAF1_ENST00000550527.1_Splice_Site|APAF1_ENST00000359972.2_Splice_Site|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000357310.1_Splice_Site	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTTTCTCTTTAGATTTGGAAT	0.383																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.e15-1		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						70.0	64.0	66.0					12																	99076919		2203	4300	6503	SO:0001630	splice_region_variant	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99076919A>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2047-1A>T	12.37:g.99076919A>T						APAF1_ENST00000333991.1_Intron|APAF1_ENST00000359972.2_Splice_Site|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000551964.1_Splice_Site|APAF1_ENST00000550527.1_Splice_Site|APAF1_ENST00000549007.1_Splice_Site|APAF1_ENST00000339433.3_Splice_Site|APAF1_ENST00000547045.1_Splice_Site		NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			15	2623	+								B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Splice_Site	SNP	ENST00000551964.1	37		CCDS9069.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.467103	0.84533	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4077	0.74893	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	APAF1	97601050	1.000000	0.71417	0.973000	0.42090	0.976000	0.68499	7.300000	0.78841	2.124000	0.65301	0.482000	0.46254	.		0.383	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	Intron	7	225	0	0	0	1	0	7	225				
GABRG3	2567	broad.mit.edu	37	15	27777970	27777970	+	Silent	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:27777970C>T	ENST00000333743.6	+	10	1601	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	449					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGGTCTTTTTCCCCACGTCCT	0.473																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42						c.(1345-1347)ttC>ttT		gamma-aminobutyric acid (GABA) A receptor, gamma 3							72.0	73.0	72.0					15																	27777970		1960	4147	6107	SO:0001819	synonymous_variant	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27777970C>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1347C>T	15.37:g.27777970C>T						RP11-100M12.3_ENST00000556642.1_RNA	p.F449F	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	10	1601	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	449					G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	c.1347C>T	CCDS45195.1																																																																																				0.473	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			50	40	0	0	0	1	0	50	40				
NCOR1P1	149934	broad.mit.edu	37	20	26084094	26084094	+	RNA	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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			149934							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	69	0	0	0	1	0	6	69				
XRCC5	7520	broad.mit.edu	37	2	216981499	216981499	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:216981499C>G	ENST00000392133.3	+	5	714	c.253C>G	c.(253-255)Cta>Gta	p.L85V	XRCC5_ENST00000392132.2_Missense_Mutation_p.L85V			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	85					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		ACATCTGATGCTACCAGATTT	0.438								Non-homologous end-joining																														ENST00000392133.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(253-255)Cta>Gta	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							171.0	152.0	159.0					2																	216981499		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216981499C>G	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.253C>G	2.37:g.216981499C>G	ENSP00000375978:p.Leu85Val					XRCC5_ENST00000392132.2_Missense_Mutation_p.L85V	p.L85V			P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	5	714	+		Renal(323;0.0328)	85					A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.253C>G	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	C	6.836	0.523513	0.13066	.	.	ENSG00000079246	ENST00000392133;ENST00000392132;ENST00000417391	T;T	0.28069	1.63;1.63	5.8	3.96	0.45880	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.239802	0.36066	N	0.002805	T	0.23649	0.0572	L	0.41415	1.275	0.46798	D	0.999202	B	0.06786	0.001	B	0.13407	0.009	T	0.05022	-1.0911	10	0.20519	T	0.43	.	11.1248	0.48310	0.0:0.8027:0.1277:0.0696	.	85	P13010	XRCC5_HUMAN	V	85;85;72	ENSP00000375978:L85V;ENSP00000375977:L85V	ENSP00000375977:L85V	L	+	1	2	XRCC5	216689744	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	2.471000	0.45127	1.464000	0.47987	-0.137000	0.14449	CTA		0.438	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		6	288	0	0	0	1	0	6	288				
IFT74	80173	broad.mit.edu	37	9	26988665	26988665	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:26988665A>T	ENST00000443698.1	+	7	636		c.e7-1		IFT74_ENST00000380062.5_Splice_Site|IFT74_ENST00000429045.2_Splice_Site|IFT74_ENST00000433700.1_Splice_Site	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74						cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TTTTGTTTTTAGTTGGTAGAT	0.254																																						ENST00000443698.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.e7-1		intraflagellar transport 74 homolog (Chlamydomonas)							25.0	28.0	27.0					9																	26988665		1781	4010	5791	SO:0001630	splice_region_variant	80173					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum		g.chr9:26988665A>T	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"""Intraflagellar transport homologs"""	21424	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 1"""	608040	"""coiled-coil domain containing 2"", ""intraflagellar transport 74 homolog (Chlamydomonas)"""	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.466-1A>T	9.37:g.26988665A>T						IFT74_ENST00000380062.5_Splice_Site|IFT74_ENST00000433700.1_Splice_Site|IFT74_ENST00000429045.2_Splice_Site		NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)	7	636	+		all_neural(11;2.36e-10)						Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Splice_Site	SNP	ENST00000443698.1	37		CCDS43793.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.165966	0.57476	.	.	ENSG00000096872	ENST00000519968;ENST00000433700;ENST00000443698;ENST00000380062;ENST00000544022;ENST00000429045;ENST00000517866	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9303	0.79654	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IFT74	26978665	1.000000	0.71417	0.999000	0.59377	0.589000	0.36550	8.446000	0.90329	2.229000	0.72834	0.397000	0.26171	.		0.254	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103	Intron	5	30	0	0	0	1	0	5	30				
TNFSF10	8743	broad.mit.edu	37	3	172227005	172227005	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:172227005A>T	ENST00000241261.2	-	4	541		c.e4+1		TNFSF10_ENST00000420541.2_Intron	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGTTTCTCTTACTTGGAGAAG	0.358																																						ENST00000241261.2																			0				breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15						c.e4+1		tumor necrosis factor (ligand) superfamily, member 10							92.0	88.0	89.0					3																	172227005		2203	4300	6503	SO:0001630	splice_region_variant	8743				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	g.chr3:172227005A>T	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.418+1T>A	3.37:g.172227005A>T						TNFSF10_ENST00000420541.2_Intron		NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		4	541	-	Ovarian(172;0.00197)|Breast(254;0.158)							A1Y9B3	Splice_Site	SNP	ENST00000241261.2	37		CCDS3219.1	.	.	.	.	.	.	.	.	.	.	A	9.342	1.063284	0.20067	.	.	ENSG00000121858	ENST00000241261	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.136	0.48375	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNFSF10	173709699	1.000000	0.71417	0.970000	0.41538	0.023000	0.10783	4.413000	0.59795	2.053000	0.61076	0.455000	0.32223	.		0.358	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1		Intron	5	209	0	0	0	1	0	5	209				
ABCC11	85320	broad.mit.edu	37	16	48218462	48218462	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:48218462C>A	ENST00000394747.1	-	22	3496	c.3147G>T	c.(3145-3147)agG>agT	p.R1049S	ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049S|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049S|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1049	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TGATCTCCAGCCTCAATGCCA	0.483																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3145-3147)agG>agT		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							197.0	164.0	175.0					16																	48218462		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48218462C>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3147G>T	16.37:g.48218462C>A	ENSP00000378230:p.Arg1049Ser					ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049S|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049S|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049S|ABCC11_ENST00000565329.1_5'UTR	p.R1049S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			22	3496	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1049			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3147G>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465225	0.43839	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.57	-2.79	0.05841	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.293222	0.33938	N	0.004410	D	0.92789	0.7707	M	0.86651	2.83	0.23120	N	0.998267	B;D	0.57257	0.383;0.979	B;D	0.64506	0.151;0.926	D	0.87538	0.2457	10	0.66056	D	0.02	-14.9349	10.8349	0.46681	0.0:0.3676:0.0:0.6324	.	1049;1049	Q96J66-2;Q96J66	.;ABCCB_HUMAN	S	1049	ENSP00000311326:R1049S;ENSP00000349017:R1049S;ENSP00000378231:R1049S;ENSP00000378230:R1049S	ENSP00000311326:R1049S	R	-	3	2	ABCC11	46775963	0.005000	0.15991	0.178000	0.23040	0.224000	0.24922	-0.701000	0.05075	-0.360000	0.08138	0.563000	0.77884	AGG		0.483	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		143	207	1	0	5.90745e-37	1	6.41174e-37	143	207				
TWSG1	57045	broad.mit.edu	37	18	9337189	9337189	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr18:9337189A>T	ENST00000262120.5	+	2	154		c.e2-1		RP11-888D10.3_ENST00000584509.1_lincRNA|TWSG1_ENST00000581641.1_Splice_Site	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1						BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						TTGTTTGTTTAGTTTCCTGGG	0.353																																						ENST00000262120.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						c.e2-1		twisted gastrulation BMP signaling modulator 1							111.0	111.0	111.0					18																	9337189		2203	4300	6503	SO:0001630	splice_region_variant	57045							g.chr18:9337189A>T	AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"""twisted gastrulation homolog 1 (Drosophila)"""			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.-37-1A>T	18.37:g.9337189A>T						TWSG1_ENST00000581641.1_Splice_Site		NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN			2	154	+								B2RE08|D3DUH9|Q8NBI7|Q96K46	Splice_Site	SNP	ENST00000262120.5	37		CCDS11844.1																																																																																				0.353	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2		Intron	5	188	0	0	0	1	0	5	188				
FAM122C	159091	broad.mit.edu	37	X	133948805	133948805	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:133948805A>T	ENST00000370784.4	+	2	521	c.115A>T	c.(115-117)Aat>Tat	p.N39Y	FAM122C_ENST00000414371.2_Missense_Mutation_p.N75Y|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y|FAM122C_ENST00000445123.1_5'UTR	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	39										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTAGTTTTAATTCACAGGT	0.343																																						ENST00000414371.2																			0				endometrium(2)|kidney(1)|lung(2)	5						c.(223-225)Aat>Tat		family with sequence similarity 122C							70.0	70.0	70.0					X																	133948805		2203	4300	6503	SO:0001583	missense	159091							g.chrX:133948805A>T	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.115A>T	X.37:g.133948805A>T	ENSP00000359820:p.Asn39Tyr					FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y|FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000370784.4_Missense_Mutation_p.N39Y	p.N75Y	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	Q6P4D5	F222C_HUMAN			4	396	+	Acute lymphoblastic leukemia(192;0.000127)		39					F5H036|Q8WVK9	Missense_Mutation	SNP	ENST00000370784.4	37	c.223A>T	CCDS55501.1	.	.	.	.	.	.	.	.	.	.	a	3.108	-0.183211	0.06340	.	.	ENSG00000156500	ENST00000414371;ENST00000370784;ENST00000370785	T;T;T	0.56103	0.48;0.48;0.48	5.33	1.48	0.22813	.	0.150932	0.64402	D	0.000020	T	0.58793	0.2147	L	0.49778	1.585	0.29605	N	0.847369	D;D;D;D	0.89917	1.0;0.996;0.999;0.999	D;D;D;D	0.76071	0.986;0.952;0.987;0.987	T	0.55010	-0.8207	10	0.66056	D	0.02	-4.9597	4.0562	0.09818	0.6328:0.1757:0.1915:0.0	.	75;39;39;39	F5H036;Q6P4D5;Q6P4D5-2;Q6P187	.;F222C_HUMAN;.;.	Y	75;39;39	ENSP00000402477:N75Y;ENSP00000359820:N39Y;ENSP00000359821:N39Y	ENSP00000359820:N39Y	N	+	1	0	FAM122C	133776471	0.994000	0.37717	0.001000	0.08648	0.043000	0.13939	0.822000	0.27352	-0.067000	0.12976	0.466000	0.42574	AAT		0.343	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819		10	231	0	0	0	1	0	10	231				
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000487020.1_5'Flank	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3						lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCCCAAAACTAAAAAGAAGG	0.378																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.e19-2		oxysterol binding protein-like 3							72.0	71.0	71.0					7																	24854824		2203	4300	6503	SO:0001630	splice_region_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24854824T>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2028-2A>T	7.37:g.24854824T>A						OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site		NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			19	2479	-								A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Splice_Site	SNP	ENST00000313367.2	37		CCDS5390.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.899311	0.91962	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.387	0.66953	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	OSBPL3	24821349	1.000000	0.71417	0.111000	0.21465	0.961000	0.63080	8.037000	0.88933	1.876000	0.54355	0.379000	0.24179	.		0.378	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2		Intron	14	308	0	0	0	1	0	14	308				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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		3	61	0	0	0	1	0	3	61				
ACVR1C	130399	broad.mit.edu	37	2	158397620	158397620	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:158397620G>A	ENST00000243349.8	-	7	1567	c.1207C>T	c.(1207-1209)Cgg>Tgg	p.R403W	ACVR1C_ENST00000409680.3_Missense_Mutation_p.R353W|ACVR1C_ENST00000335450.7_Missense_Mutation_p.R323W|ACVR1C_ENST00000348328.5_Missense_Mutation_p.R246W	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GAACACCTCCGGGCTATTTCC	0.393																																						ENST00000243349.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1207-1209)Cgg>Tgg		activin A receptor, type IC							124.0	126.0	125.0					2																	158397620		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158397620G>A	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1207C>T	2.37:g.158397620G>A	ENSP00000243349:p.Arg403Trp					ACVR1C_ENST00000348328.5_Missense_Mutation_p.R246W|ACVR1C_ENST00000335450.7_Missense_Mutation_p.R323W|ACVR1C_ENST00000409680.3_Missense_Mutation_p.R353W	p.R403W	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN			7	1567	-			403			Protein kinase.			Missense_Mutation	SNP	ENST00000243349.8	37	c.1207C>T	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437900	0.62955	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	5.3	4.4	0.53042	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46442	D	0.000292	D	0.97093	0.9050	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.99	D;P;D	0.91635	0.999;0.815;0.909	D	0.97601	1.0123	10	0.87932	D	0	.	12.9012	0.58126	0.0:0.0:0.7047:0.2953	.	246;323;403	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	W	403;353;246;323	ENSP00000243349:R403W;ENSP00000387168:R353W;ENSP00000335139:R246W;ENSP00000335178:R323W	ENSP00000243349:R403W	R	-	1	2	ACVR1C	158105866	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	3.075000	0.50073	1.309000	0.44985	0.591000	0.81541	CGG		0.393	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		5	215	0	0	0	1	0	5	215				
ZMAT2	153527	broad.mit.edu	37	5	140083501	140083501	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:140083501A>T	ENST00000274712.3	+	4	363		c.e4-1			NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2							nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCCTGTTAGATATTACTG	0.368																																						ENST00000274712.3																			0				breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8						c.e4-1		zinc finger, matrin-type 2							166.0	152.0	157.0					5																	140083501		2203	4300	6503	SO:0001630	splice_region_variant	153527					nucleus	DNA binding|zinc ion binding	g.chr5:140083501A>T	AK055683	CCDS4239.1	5q31	2012-10-05	2010-09-15		ENSG00000146007	ENSG00000146007		"""Zinc fingers, matrin-type"""	26433	protein-coding gene	gene with protein product						12477932	Standard	NM_144723		Approved	FLJ31121, hSNU23, Snu23	uc003lgy.1	Q96NC0	OTTHUMG00000129503	ENST00000274712.3:c.237-1A>T	5.37:g.140083501A>T								NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	363	+									Splice_Site	SNP	ENST00000274712.3	37		CCDS4239.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.787461	0.90367	.	.	ENSG00000146007	ENST00000274712	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0025	0.80306	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZMAT2	140063685	1.000000	0.71417	0.698000	0.30274	0.851000	0.48451	8.932000	0.92897	2.237000	0.73441	0.459000	0.35465	.		0.368	ZMAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468143.1	NM_144723	Intron	9	604	0	0	0	1	0	9	604				
U2SURP	23350	broad.mit.edu	37	3	142733221	142733221	+	Missense_Mutation	SNP	T	T	A	rs202018152		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:142733221T>A	ENST00000473835.2	+	4	381	c.291T>A	c.(289-291)agT>agA	p.S97R	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.S97R	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	97					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GAACTTTAAGTAAAAAGGAAC	0.299																																						ENST00000473835.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(289-291)agT>agA		U2 snRNP-associated SURP domain containing							51.0	48.0	49.0					3																	142733221		1814	4070	5884	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142733221T>A	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.291T>A	3.37:g.142733221T>A	ENSP00000418563:p.Ser97Arg					U2SURP_ENST00000493598.2_Missense_Mutation_p.S97R|U2SURP_ENST00000397933.2_5'UTR	p.S97R	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN			4	381	+			97					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.291T>A	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.967085	0.74131	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598;ENST00000465175	T;T	0.11385	2.78;2.78	5.5	1.53	0.23141	.	0.000000	0.85682	D	0.000000	T	0.23451	0.0567	M	0.76170	2.325	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.99	D;D;P	0.68621	0.959;0.925;0.843	T	0.05869	-1.0859	10	0.23302	T	0.38	-18.1071	6.3851	0.21556	0.0:0.5358:0.0:0.4642	.	97;97;97	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	R	97;97;97;97;67	ENSP00000418563:S97R;ENSP00000422011:S97R	ENSP00000322376:S97R	S	+	3	2	U2SURP	144215911	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.477000	0.35431	0.488000	0.27723	-0.371000	0.07208	AGT		0.299	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		4	131	0	0	0	1	0	4	131				
DDX42	11325	broad.mit.edu	37	17	61897195	61897195	+	IGR	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:61897195A>T	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Silent_p.R837R	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTTGTTCCTTACGTTGCTGTG	0.537																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(2509-2511)cgT>cgA		FtsJ homolog 3 (E. coli)							301.0	257.0	272.0					17																	61897195		2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61897195A>T	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897195A>T							p.R837R	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			21	3156	-			837					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	ENST00000578681.1	37	c.2511T>A	CCDS32704.1																																																																																				0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		9	603	0	0	0	1	0	9	603				
ZNF512	84450	broad.mit.edu	37	2	27838033	27838033	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:27838033A>T	ENST00000355467.4	+	11	1214		c.e11-1		ZNF512_ENST00000413371.2_Splice_Site|ZNF512_ENST00000416005.2_Splice_Site|ZNF512_ENST00000556601.1_Splice_Site|ZNF512_ENST00000379717.1_Splice_Site|RP11-158I13.2_ENST00000505973.1_RNA	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512						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)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					CTTGTCTTGTAGTTAAAATAT	0.363																																						ENST00000355467.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e11-1		zinc finger protein 512							154.0	145.0	148.0					2																	27838033		2203	4300	6503	SO:0001630	splice_region_variant	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27838033A>T	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.1132-1A>T	2.37:g.27838033A>T						ZNF512_ENST00000416005.2_Splice_Site|ZNF512_ENST00000413371.2_Splice_Site|ZNF512_ENST00000379717.1_Splice_Site|ZNF512_ENST00000556601.1_Splice_Site|RP11-158I13.2_ENST00000505973.1_RNA				Q96ME7	ZN512_HUMAN			11	1214	+	Acute lymphoblastic leukemia(172;0.155)							B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Splice_Site	SNP	ENST00000355467.4	37		CCDS1758.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512015	0.85389	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000556601;ENST00000416005;ENST00000413371	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2369	0.59974	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF512	27691537	1.000000	0.71417	0.959000	0.39883	0.942000	0.58702	7.773000	0.85462	2.136000	0.66102	0.533000	0.62120	.		0.363	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434	Intron	5	114	0	0	0	1	0	5	114				
TYW1	55253	broad.mit.edu	37	7	66548462	66548462	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:66548462C>A	ENST00000359626.5	+	11	1484	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	440					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.D440E(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GGAAGATGGACCAGCCTGAAA	0.443																																						ENST00000359626.5																			1	Substitution - Missense(1)	p.D440E(1)	prostate(1)	breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(1318-1320)gaC>gaA		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							96.0	93.0	94.0					7																	66548462		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66548462C>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1320C>A	7.37:g.66548462C>A	ENSP00000352645:p.Asp440Glu						p.D440E	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			11	1484	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	440					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.1320C>A	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477772	0.84640	.	.	ENSG00000198874	ENST00000359626	D	0.90261	-2.64	4.62	4.62	0.57501	Radical SAM (1);	0.000000	0.85682	U	0.000000	D	0.95943	0.8679	M	0.89904	3.07	0.58432	D	0.999997	D	0.65815	0.995	D	0.79108	0.992	D	0.96802	0.9590	10	0.87932	D	0	.	15.333	0.74229	0.0:1.0:0.0:0.0	.	440	Q9NV66	TYW1_HUMAN	E	440	ENSP00000352645:D440E	ENSP00000352645:D440E	D	+	3	2	TYW1	66185897	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.451000	0.52964	2.273000	0.75805	0.603000	0.83216	GAC		0.443	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		5	268	1	0	0.00307968	1	0.00318711	5	268				
TAT	6898	broad.mit.edu	37	16	71610149	71610149	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:71610149C>T	ENST00000355962.4	-	2	303	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	57					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CACAATGGCTCGGATGGGGTT	0.502																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	ENST00000355962.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29						c.(169-171)cGa>cAa		tyrosine aminotransferase	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						143.0	115.0	124.0					16																	71610149		2198	4300	6498	SO:0001583	missense	6898				2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71610149C>T		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.170G>A	16.37:g.71610149C>T	ENSP00000348234:p.Arg57Gln					RP11-432I5.1_ENST00000561529.1_RNA	p.R57Q	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN		Kidney(780;0.0157)	2	303	-		Ovarian(137;0.125)	57					B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	c.170G>A	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	36	5.828712	0.96996	.	.	ENSG00000198650	ENST00000355962	D	0.89196	-2.48	6.01	6.01	0.97437	Tyrosine aminotransferase (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	M	0.90019	3.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.995;0.999	D	0.95818	0.8847	10	0.87932	D	0	-21.0816	20.5141	0.99211	0.0:1.0:0.0:0.0	.	57;57;57	Q8WW92;A1L4G7;P17735	.;.;ATTY_HUMAN	Q	57	ENSP00000348234:R57Q	ENSP00000348234:R57Q	R	-	2	0	TAT	70167650	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.487000	0.81328	2.850000	0.98022	0.655000	0.94253	CGA		0.502	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			41	36	0	0	0	1	0	41	36				
GRAMD1C	54762	broad.mit.edu	37	3	113649559	113649559	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:113649559A>T	ENST00000358160.4	+	11	1582		c.e11-1		GRAMD1C_ENST00000452134.2_Splice_Site|GRAMD1C_ENST00000479212.1_Splice_Site|GRAMD1C_ENST00000440446.2_Splice_Site|GRAMD1C_ENST00000472026.1_Splice_Site	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C							integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TGTTGTTGTTAGATGTAGTAT	0.343																																						ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.e11-1		GRAM domain containing 1C							158.0	150.0	152.0					3																	113649559		2203	4300	6503	SO:0001630	splice_region_variant	54762					integral to membrane		g.chr3:113649559A>T		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1091-1A>T	3.37:g.113649559A>T						GRAMD1C_ENST00000472026.1_Splice_Site|GRAMD1C_ENST00000479212.1_Splice_Site|GRAMD1C_ENST00000452134.2_Splice_Site|GRAMD1C_ENST00000440446.2_Splice_Site		NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN			11	1582	+								A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Splice_Site	SNP	ENST00000358160.4	37		CCDS33826.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448563	0.84101	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000462838;ENST00000440446	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.736	0.62817	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRAMD1C	115132249	1.000000	0.71417	0.995000	0.50966	0.937000	0.57800	7.091000	0.76923	2.236000	0.73375	0.533000	0.62120	.		0.343	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577	Intron	8	196	0	0	0	1	0	8	196				
RBMX2	51634	broad.mit.edu	37	X	129545472	129545472	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:129545472G>A	ENST00000305536.6	+	5	518	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	152							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						CTCTGAAGATGAAAAACCAAC	0.428																																						ENST00000305536.6																			0				breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(454-456)Gaa>Aaa		RNA binding motif protein, X-linked 2							75.0	64.0	68.0					X																	129545472		1846	4081	5927	SO:0001583	missense	51634						nucleotide binding|RNA binding	g.chrX:129545472G>A	AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.454G>A	X.37:g.129545472G>A	ENSP00000339090:p.Glu152Lys					RBMX2_ENST00000469953.1_3'UTR	p.E152K	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN			5	518	+			152					A8K9Z0|Q5JY82|Q9Y3I8	Missense_Mutation	SNP	ENST00000305536.6	37	c.454G>A	CCDS43993.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839467	0.51057	.	.	ENSG00000134597	ENST00000305536;ENST00000538614	T	0.15256	2.44	5.26	5.26	0.73747	.	0.663875	0.15598	N	0.254065	T	0.13329	0.0323	L	0.29908	0.895	0.80722	D	1	B	0.28128	0.201	B	0.16722	0.016	T	0.12218	-1.0556	10	0.19590	T	0.45	.	15.4681	0.75419	0.0:0.0:1.0:0.0	.	152	Q9Y388	RBMX2_HUMAN	K	152	ENSP00000339090:E152K	ENSP00000339090:E152K	E	+	1	0	RBMX2	129373153	0.925000	0.31364	0.829000	0.32907	0.822000	0.46500	4.101000	0.57769	2.334000	0.79466	0.600000	0.82982	GAA		0.428	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	NM_016024		4	130	0	0	0	1	0	4	130				
VTA1	51534	broad.mit.edu	37	6	142490816	142490816	+	Splice_Site	SNP	T	T	A	rs201442533		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:142490816T>A	ENST00000367630.4	+	3	393		c.e3+2		VTA1_ENST00000452973.2_Splice_Site|VTA1_ENST00000367621.1_Splice_Site	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1						endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		ATTTCACAAGTAAGTAAAGAG	0.303																																						ENST00000367630.4																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.e3+2		vesicle (multivesicular body) trafficking 1							47.0	47.0	47.0					6																	142490816		2203	4300	6503	SO:0001630	splice_region_variant	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142490816T>A	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.335+2T>A	6.37:g.142490816T>A						VTA1_ENST00000367621.1_Splice_Site|VTA1_ENST00000452973.2_Splice_Site		NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	3	393	+	Breast(32;0.155)							B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Splice_Site	SNP	ENST00000367630.4	37		CCDS5197.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.677272	0.68042	.	.	ENSG00000009844	ENST00000367630;ENST00000367621;ENST00000452973;ENST00000427932	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5608	0.68133	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	VTA1	142532509	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.491000	0.81471	1.891000	0.54761	0.533000	0.62120	.		0.303	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485	Intron	3	31	0	0	0	1	0	3	31				
MIR17HG	407975	broad.mit.edu	37	13	92003640	92003640	+	RNA	SNP	G	G	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr13:92003640G>C	ENST00000362310.2	+	0	184				MIR17HG_ENST00000385233.2_RNA|MIR17HG_ENST00000385012.1_RNA|MIR17HG_ENST00000384878.1_RNA|MIR17HG_ENST00000362279.1_RNA|MIR17HG_ENST00000384829.1_RNA	NR_029488.1		Q75NE6	MIRH1_HUMAN	miR-17-92 cluster host gene (non-protein coding)							integral component of membrane (GO:0016021)											GGCCTGTTGAGTTTGGTGGGG	0.378																																						ENST00000385233.2																			0																				167.0	134.0	144.0					13																	92003640		1568	3582	5150			407975							g.chr13:92003640G>C	AB176707		13q31.3	2014-07-18	2011-02-14	2009-07-24	ENSG00000215417	ENSG00000215417		"""-"""	23564	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 48"", ""long intergenic non-protein coding RNA 48"""	609415	"""chromosome 13 open reading frame 25"", ""microRNA host gene 1 (non-protein coding)"", ""MIR17 host gene (non-protein coding)"""	C13orf25, MIRHG1		15126345, 15944707, 16266980, 17210683, 23551855	Standard	NR_027349		Approved	FLJ14178, MIRH1, MIHG1, NCRNA00048, miR-17-92, LINC00048	uc010tie.1	Q75NE6	OTTHUMG00000017195		13.37:g.92003640G>C								NR_029508.1						0	73	+								A4QMU7|Q75NE7	RNA	SNP	ENST00000362310.2	37																																																																																						0.378	MIR17HG-202	KNOWN	basic	miRNA	processed_transcript		NR_027349		34	12	0	0	0	1	0	34	12				
ANXA3	306	broad.mit.edu	37	4	79522703	79522703	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:79522703G>T	ENST00000264908.6	+	11	1149	c.770G>T	c.(769-771)aGa>aTa	p.R257I	ANXA3_ENST00000503570.2_Missense_Mutation_p.R218I|ANXA3_ENST00000512884.1_Missense_Mutation_p.R218I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	257					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTAGCCGAAAGACTGCATCGA	0.388																																					GBM(2;126 157 27790 28920 42492)	ENST00000264908.6																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(769-771)aGa>aTa		annexin A3							131.0	122.0	125.0					4																	79522703		2203	4300	6503	SO:0001583	missense	306				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	g.chr4:79522703G>T	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.770G>T	4.37:g.79522703G>T	ENSP00000264908:p.Arg257Ile					ANXA3_ENST00000503570.2_Missense_Mutation_p.R218I|ANXA3_ENST00000512884.1_Missense_Mutation_p.R218I	p.R257I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN			11	1149	+			257					B2R9W6|Q6LET2	Missense_Mutation	SNP	ENST00000264908.6	37	c.770G>T	CCDS3584.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120043	0.56613	.	.	ENSG00000138772	ENST00000264908;ENST00000512884;ENST00000503570	T;T;T	0.03065	4.06;4.06;4.06	5.21	4.37	0.52481	.	0.104658	0.64402	D	0.000014	T	0.11067	0.0270	M	0.74647	2.275	0.58432	D	0.999999	P	0.49253	0.921	P	0.50708	0.648	T	0.00893	-1.1524	10	0.87932	D	0	.	12.562	0.56286	0.0811:0.0:0.9189:0.0	.	257	P12429	ANXA3_HUMAN	I	257;218;218	ENSP00000264908:R257I;ENSP00000423068:R218I;ENSP00000421015:R218I	ENSP00000264908:R257I	R	+	2	0	ANXA3	79741727	0.998000	0.40836	0.945000	0.38365	0.482000	0.33219	1.372000	0.34261	1.420000	0.47138	0.585000	0.79938	AGA		0.388	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		161	241	1	0	2.08959e-108	1	2.31023e-108	161	241				
HEPHL1	341208	broad.mit.edu	37	11	93837804	93837804	+	Silent	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:93837804A>T	ENST00000315765.9	+	16	2801	c.2793A>T	c.(2791-2793)gtA>gtT	p.V931V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	931	Plastocyanin-like 6.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGTTTTTGGTATTTAATGAGA	0.373																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(2791-2793)gtA>gtT		hephaestin-like 1							144.0	143.0	143.0					11																	93837804		1863	4090	5953	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93837804A>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2793A>T	11.37:g.93837804A>T							p.V931V	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			16	2801	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	931			Plastocyanin-like 6.		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.2793A>T	CCDS44710.1																																																																																				0.373	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		15	613	0	0	0	1	0	15	613				
CENPE	1062	broad.mit.edu	37	4	104098109	104098109	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:104098109A>T	ENST00000265148.3	-	14	1426	c.1337T>A	c.(1336-1338)aTa>aAa	p.I446K	CENPE_ENST00000380026.3_Missense_Mutation_p.I446K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	446					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTTGTTGTTATATTTGTTGG	0.289																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(1336-1338)aTa>aAa		centromere protein E, 312kDa							90.0	86.0	88.0					4																	104098109		2200	4285	6485	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104098109A>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1337T>A	4.37:g.104098109A>T	ENSP00000265148:p.Ile446Lys					CENPE_ENST00000380026.3_Missense_Mutation_p.I446K	p.I446K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	14	1426	-			446					A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.1337T>A	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.379751	0.42207	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.55413	0.52;0.52;0.52	5.4	5.4	0.78164	.	.	.	.	.	T	0.48447	0.1500	L	0.44542	1.39	0.20975	N	0.999815	P;P	0.45283	0.828;0.855	P;B	0.45232	0.474;0.188	T	0.44817	-0.9303	9	0.46703	T	0.11	.	8.4756	0.33012	0.8779:0.0:0.1221:0.0	.	446;446	Q02224-3;Q02224	.;CENPE_HUMAN	K	446	ENSP00000265148:I446K;ENSP00000369365:I446K;ENSP00000423981:I446K	ENSP00000265148:I446K	I	-	2	0	CENPE	104317558	0.016000	0.18221	0.722000	0.30670	0.124000	0.20399	2.148000	0.42235	2.035000	0.60131	0.533000	0.62120	ATA		0.289	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	100	0	0	0	1	0	6	100				
OR13C8	138802	broad.mit.edu	37	9	107331538	107331538	+	Silent	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:107331538A>T	ENST00000335040.1	+	1	90	c.90A>T	c.(88-90)ctA>ctT	p.L30L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTTCGTTCTAATTTTGTGGA	0.433																																						ENST00000335040.1																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(88-90)ctA>ctT		olfactory receptor, family 13, subfamily C, member 8							232.0	225.0	227.0					9																	107331538		2203	4300	6503	SO:0001819	synonymous_variant	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331538A>T		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.90A>T	9.37:g.107331538A>T							p.L30L	NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN			1	90	+			30					Q5VVG0|Q96R44	Silent	SNP	ENST00000335040.1	37	c.90A>T	CCDS35090.1																																																																																				0.433	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			14	602	0	0	0	1	0	14	602				
PLSCR2	57047	broad.mit.edu	37	3	146171870	146171870	+	Silent	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:146171870A>T	ENST00000497985.1	-	7	1060	c.621T>A	c.(619-621)atT>atA	p.I207I	PLSCR2_ENST00000336685.2_Silent_p.I134I	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	207					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TCTGATTTTTAATTGTAAACT	0.378																																						ENST00000497985.1																			0				endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						c.(619-621)atT>atA		phospholipid scramblase 2							112.0	112.0	112.0					3																	146171870		2203	4300	6503	SO:0001819	synonymous_variant	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146171870A>T		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.621T>A	3.37:g.146171870A>T						PLSCR2_ENST00000336685.2_Silent_p.I134I	p.I207I	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN			7	1060	-			134					B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Silent	SNP	ENST00000497985.1	37	c.621T>A	CCDS56284.1																																																																																				0.378	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		4	114	0	0	0	1	0	4	114				
MIS18BP1	55320	broad.mit.edu	37	14	45693666	45693666	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:45693666A>T	ENST00000310806.4	-	11	2582	c.2124T>A	c.(2122-2124)agT>agA	p.S708R		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	708					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CCTTGTTTTTACTTTTATGAC	0.348																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2122-2124)agT>agA		MIS18 binding protein 1							69.0	70.0	70.0					14																	45693666		2203	4299	6502	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45693666A>T	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2124T>A	14.37:g.45693666A>T	ENSP00000309790:p.Ser708Arg						p.S708R	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			11	2582	-			708					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.2124T>A	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	A	5.678	0.309609	0.10733	.	.	ENSG00000129534	ENST00000310806	T	0.21031	2.03	5.36	0.0493	0.14289	.	0.729507	0.14408	N	0.321445	T	0.16557	0.0398	L	0.51422	1.61	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.23190	-1.0195	10	0.66056	D	0.02	-0.9237	4.399	0.11377	0.4861:0.3306:0.1833:0.0	.	708	Q6P0N0	M18BP_HUMAN	R	708	ENSP00000309790:S708R	ENSP00000309790:S708R	S	-	3	2	MIS18BP1	44763416	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.008000	0.12788	-0.148000	0.11234	0.533000	0.62120	AGT		0.348	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			6	215	0	0	0	1	0	6	215				
CCDC89	220388	broad.mit.edu	37	11	85396537	85396537	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:85396537C>G	ENST00000316398.3	-	1	783	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	CREBZF_ENST00000534224.1_5'Flank|CREBZF_ENST00000531515.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	213						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTCTGTAGCTCCAGCAGCTCC	0.637																																						ENST00000316398.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(637-639)Gag>Cag		coiled-coil domain containing 89							85.0	85.0	85.0					11																	85396537		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396537C>G	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.637G>C	11.37:g.85396537C>G	ENSP00000320649:p.Glu213Gln						p.E213Q	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN			1	783	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	213						Missense_Mutation	SNP	ENST00000316398.3	37	c.637G>C	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467395	0.63625	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.8	5.8	0.92144	.	0.744519	0.12926	N	0.427790	T	0.75376	0.3841	L	0.59436	1.845	0.38901	D	0.957326	D	0.61080	0.989	P	0.58266	0.836	T	0.72769	-0.4193	8	.	.	.	-2.2724	20.0609	0.97674	0.0:1.0:0.0:0.0	.	213	Q8N998	CCD89_HUMAN	Q	213	.	.	E	-	1	0	CCDC89	85074185	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.279000	0.58953	2.755000	0.94549	0.655000	0.94253	GAG		0.637	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		6	164	0	0	0	1	0	6	164				
TAS2R3	50831	broad.mit.edu	37	7	141464711	141464711	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:141464711A>T	ENST00000247879.2	+	1	815	c.753A>T	c.(751-753)ttA>ttT	p.L251F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	251					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttgctttcttAATTGCATCAT	0.408																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(751-753)ttA>ttT		taste receptor, type 2, member 3							100.0	92.0	95.0					7																	141464711		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464711A>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.753A>T	7.37:g.141464711A>T	ENSP00000247879:p.Leu251Phe					SSBP1_ENST00000465582.1_Intron	p.L251F	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN			1	815	+	Melanoma(164;0.0171)		251					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.753A>T	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542307	0.27563	.	.	ENSG00000127362	ENST00000247879	T	0.41758	0.99	5.41	-5.76	0.02376	.	1.317490	0.05404	N	0.541237	T	0.24624	0.0597	L	0.31157	0.91	0.09310	N	1	B	0.17465	0.022	B	0.17433	0.018	T	0.34950	-0.9808	10	0.72032	D	0.01	.	1.1254	0.01734	0.3389:0.3138:0.1416:0.2056	.	251	Q9NYW6	TA2R3_HUMAN	F	251	ENSP00000247879:L251F	ENSP00000247879:L251F	L	+	3	2	TAS2R3	141111180	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.547000	0.06055	-0.464000	0.06963	-0.472000	0.04984	TTA		0.408	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			8	412	0	0	0	1	0	8	412				
GMEB1	10691	broad.mit.edu	37	1	29019452	29019452	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:29019452A>T	ENST00000294409.2	+	5	456		c.e5-1		GMEB1_ENST00000373816.1_Splice_Site|GMEB1_ENST00000361872.4_Splice_Site|GMEB1_ENST00000480454.1_Splice_Site	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1						transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTACTTTTAGTTCAATGAT	0.403																																						ENST00000373816.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11						c.e5-1		glucocorticoid modulatory element binding protein 1							110.0	101.0	104.0					1																	29019452		2203	4300	6503	SO:0001630	splice_region_variant	10691				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	g.chr1:29019452A>T	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.367-1A>T	1.37:g.29019452A>T						GMEB1_ENST00000361872.4_Splice_Site|GMEB1_ENST00000294409.2_Splice_Site|GMEB1_ENST00000480454.1_Splice_Site		NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	5	474	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)						B1AT48|Q9NWH1|Q9UKD0	Splice_Site	SNP	ENST00000294409.2	37		CCDS327.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.528904	0.85706	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5272	0.75919	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GMEB1	28892039	1.000000	0.71417	0.996000	0.52242	0.912000	0.54170	7.283000	0.78640	2.311000	0.77944	0.533000	0.62120	.		0.403	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	NM_006582	Intron	4	90	0	0	0	1	0	4	90				
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368|rs143389223	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:102292785C>G	ENST00000561463.1	+	0	831									DNM1 pseudogene 47									p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602																																						ENST00000561463.1																			1	Substitution - Missense(1)	p.Q125E(1)	kidney(1)																																																100216544							g.chr15:102292785C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292785C>G														0	831	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4	0	0	0	1	0	2	4				
ECD	11319	broad.mit.edu	37	10	74920195	74920195	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr10:74920195G>C	ENST00000372979.4	-	3	526	c.320C>G	c.(319-321)gCa>gGa	p.A107G	ECD_ENST00000430082.2_Missense_Mutation_p.A107G|ECD_ENST00000454759.2_Missense_Mutation_p.A107G|ECD_ENST00000610256.1_5'UTR	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	107					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					ACAATACCTTGCTACTAACTC	0.294																																						ENST00000372979.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(319-321)gCa>gGa		ecdysoneless homolog (Drosophila)							67.0	66.0	66.0					10																	74920195		2203	4300	6503	SO:0001583	missense	11319				regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	g.chr10:74920195G>C	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.320C>G	10.37:g.74920195G>C	ENSP00000362070:p.Ala107Gly					ECD_ENST00000430082.1_Missense_Mutation_p.A107G|ECD_ENST00000454759.1_Missense_Mutation_p.A107G	p.A107G	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN			3	526	-	Prostate(51;0.0119)		107					C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	37	c.320C>G	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085848	0.55861	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759;ENST00000453402;ENST00000413026	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	4.91	4.91	0.64330	.	0.048259	0.85682	D	0.000000	T	0.33089	0.0851	M	0.77712	2.385	0.80722	D	1	B;B;P	0.35628	0.315;0.325;0.513	B;B;B	0.41466	0.255;0.2;0.358	T	0.14980	-1.0453	10	0.54805	T	0.06	.	13.9531	0.64131	0.0:0.0:1.0:0.0	.	107;107;107	E9PAW8;C9JX46;O95905	.;.;SGT1_HUMAN	G	107;107;107;33;107	ENSP00000362070:A107G;ENSP00000401566:A107G;ENSP00000395786:A107G;ENSP00000391367:A33G;ENSP00000416288:A107G	ENSP00000362070:A107G	A	-	2	0	ECD	74590201	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.000000	0.63940	2.432000	0.82394	0.655000	0.94253	GCA		0.294	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		3	50	0	0	0	1	0	3	50				
SOAT1	6646	broad.mit.edu	37	1	179319429	179319429	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:179319429A>T	ENST00000367619.3	+	14	1457		c.e14-1		SOAT1_ENST00000539888.1_Splice_Site|SOAT1_ENST00000535686.1_Splice_Site|SOAT1_ENST00000540564.1_Splice_Site	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1						cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	CTTTTTCTTTAGTTTTTCTCC	0.333																																						ENST00000367619.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.e14-1		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						122.0	112.0	115.0					1																	179319429		2203	4300	6503	SO:0001630	splice_region_variant	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179319429A>T	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1315-1A>T	1.37:g.179319429A>T						SOAT1_ENST00000535686.1_Splice_Site|SOAT1_ENST00000540564.1_Splice_Site|SOAT1_ENST00000539888.1_Splice_Site		NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN			14	1457	+								A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Splice_Site	SNP	ENST00000367619.3	37		CCDS1330.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.668872	0.29604	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	.	.	.	5.51	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4654	0.44604	0.7419:0.2581:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SOAT1	177586052	1.000000	0.71417	0.901000	0.35422	0.560000	0.35617	5.599000	0.67592	2.217000	0.71921	0.482000	0.46254	.		0.333	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101	Intron	4	128	0	0	0	1	0	4	128				
FIG4	9896	broad.mit.edu	37	6	110087930	110087930	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:110087930A>T	ENST00000230124.3	+	15	1707		c.e15-1		FIG4_ENST00000441478.2_Splice_Site	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase						cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TTCTTTTTTTAGGTTATTTGA	0.343																																						ENST00000230124.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32						c.e15-1		FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)							118.0	113.0	115.0					6																	110087930		2203	4300	6503	SO:0001630	splice_region_variant	9896				cell death	endosome membrane	protein binding	g.chr6:110087930A>T	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1584-1A>T	6.37:g.110087930A>T						FIG4_ENST00000441478.2_Splice_Site		NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	15	1707	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)						Q53H49|Q5TCS6	Splice_Site	SNP	ENST00000230124.3	37		CCDS5078.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.860648	0.71834	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6434	0.77025	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FIG4	110194623	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.561000	0.90715	2.099000	0.63709	0.454000	0.30748	.		0.343	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845	Intron	6	144	0	0	0	1	0	6	144				
ZNF79	7633	broad.mit.edu	37	9	130207131	130207131	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:130207131T>C	ENST00000342483.5	+	5	1558	c.1152T>C	c.(1150-1152)acT>acC	p.T384T	ZNF79_ENST00000543471.1_Silent_p.T360T|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	384					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)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GGACTCACACTGGGGAGAAAC	0.547																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(1150-1152)acT>acC		zinc finger protein 79							74.0	71.0	72.0					9																	130207131		2203	4300	6503	SO:0001819	synonymous_variant	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130207131T>C	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1152T>C	9.37:g.130207131T>C						ZNF79_ENST00000543471.1_Silent_p.T360T	p.T384T	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1558	+			384					Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	c.1152T>C	CCDS6871.1																																																																																				0.547	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		8	267	0	0	0	1	0	8	267				
B3GNT1	11041	broad.mit.edu	37	11	66114674	66114674	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:66114674G>A	ENST00000311181.4	-	1	489	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	RP11-867G23.8_ENST00000531602.1_5'Flank|BRMS1_ENST00000359957.3_5'Flank|BRMS1_ENST00000425825.2_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	115					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						CCCTCCCAGCGCTCCAGCAGA	0.687																																						ENST00000311181.4																			0				breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						c.(343-345)Cgc>Tgc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1							15.0	13.0	14.0					11																	66114674		2178	4275	6453	SO:0001583	missense	11041				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	g.chr11:66114674G>A	AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"""Beta 3-glycosyltransferases"""	15685	protein-coding gene	gene with protein product	"""N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"""	605517	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"""	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.343C>T	11.37:g.66114674G>A	ENSP00000309096:p.Arg115Cys						p.R115C	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN			1	489	-			115					Q4TTN0	Missense_Mutation	SNP	ENST00000311181.4	37	c.343C>T	CCDS8136.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021967	0.75275	.	.	ENSG00000174684	ENST00000311181	T	0.26660	1.72	5.18	5.18	0.71444	.	0.054388	0.64402	D	0.000001	T	0.51770	0.1694	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.54207	-0.8328	10	0.66056	D	0.02	-23.9935	16.5369	0.84375	0.0:0.0:1.0:0.0	.	115	O43505	B3GN1_HUMAN	C	115	ENSP00000309096:R115C	ENSP00000309096:R115C	R	-	1	0	B3GNT1	65871250	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.119000	0.57891	2.577000	0.86979	0.462000	0.41574	CGC		0.687	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1	NM_006876		2	2	0	0	0	1	0	2	2				
RAPGEF6	51735	broad.mit.edu	37	5	130897742	130897742	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:130897742T>A	ENST00000509018.1	-	5	487		c.e5-2		RAPGEF6_ENST00000296859.6_Splice_Site|RAPGEF6_ENST00000510071.1_Splice_Site|RAPGEF6_ENST00000503398.2_Intron|RAPGEF6_ENST00000307984.5_Splice_Site|CTC-432M15.3_ENST00000514667.1_Splice_Site|RAPGEF6_ENST00000308008.6_Splice_Site|RAPGEF6_ENST00000507093.1_Splice_Site	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6						positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTACCAAAACTATAAAAACAG	0.284																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.e5-2		Rap guanine nucleotide exchange factor (GEF) 6							97.0	100.0	99.0					5																	130897742		2203	4295	6498	SO:0001630	splice_region_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130897742T>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.282-2A>T	5.37:g.130897742T>A						RAPGEF6_ENST00000510071.1_Splice_Site|RAPGEF6_ENST00000307984.5_Splice_Site|RAPGEF6_ENST00000308008.6_Splice_Site|RAPGEF6_ENST00000503398.2_Intron|FNIP1_ENST00000514667.1_Splice_Site|RAPGEF6_ENST00000296859.6_Splice_Site|RAPGEF6_ENST00000507093.1_Splice_Site		NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	5	487	-								A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Splice_Site	SNP	ENST00000509018.1	37		CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425029	0.83667	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000514667	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9416	0.64059	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAPGEF6;FNIP1	130925641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.925000	0.70062	2.278000	0.76064	0.533000	0.62120	.		0.284	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340	Intron	5	228	0	0	0	1	0	5	228				
BCL2L12	83596	broad.mit.edu	37	19	50169227	50169227	+	Silent	SNP	G	G	A	rs201895036	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:50169227G>A	ENST00000246785.3	+	1	405	c.147G>A	c.(145-147)gtG>gtA	p.V49V	IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000377139.3_5'Flank|IRF3_ENST00000597198.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000596765.1_5'Flank|BCL2L12_ENST00000441864.2_Silent_p.V49V|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000600022.1_5'Flank|BCL2L12_ENST00000246784.3_Silent_p.V49V	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	49					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CCGGCCCAGTGCGCAGGCGCG	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		14839	0.002		0.0	False		,,,				2504	0.0					ENST00000246785.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8						c.(145-147)gtG>gtA		BCL2-like 12 (proline rich)							21.0	22.0	21.0					19																	50169227		2202	4300	6502	SO:0001819	synonymous_variant	83596				apoptosis			g.chr19:50169227G>A	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.147G>A	19.37:g.50169227G>A						BCL2L12_ENST00000441864.2_Silent_p.V49V|BCL2L12_ENST00000246784.3_Silent_p.V49V	p.V49V	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)	1	405	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	49					Q3SY11|Q3SY13|Q96I96|Q9HB08	Silent	SNP	ENST00000246785.3	37	c.147G>A	CCDS12776.1																																																																																				0.617	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	NM_052842		6	8	0	0	0	1	0	6	8				
KIF5A	3798	broad.mit.edu	37	12	57972099	57972099	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:57972099G>A	ENST00000455537.2	+	23	2786	c.2512G>A	c.(2512-2514)Gaa>Aaa	p.E838K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E749K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	838					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GAACAACCTGGAACAGCTTAC	0.473																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2512-2514)Gaa>Aaa		kinesin family member 5A							68.0	67.0	67.0					12																	57972099		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57972099G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2512G>A	12.37:g.57972099G>A	ENSP00000408979:p.Glu838Lys					KIF5A_ENST00000286452.5_Missense_Mutation_p.E749K	p.E838K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			23	2786	+			838					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.2512G>A	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631553	0.87660	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.86432	-2.12;-2.12	5.15	4.26	0.50523	.	0.246896	0.39544	N	0.001323	D	0.90724	0.7089	M	0.82323	2.585	0.41650	D	0.989126	P;P	0.41524	0.753;0.753	P;P	0.48400	0.576;0.489	D	0.91661	0.5342	10	0.52906	T	0.07	.	14.4704	0.67512	0.0:0.0:0.8515:0.1485	.	749;838	B7Z2M7;Q12840	.;KIF5A_HUMAN	K	838;749	ENSP00000408979:E838K;ENSP00000286452:E749K	ENSP00000286452:E749K	E	+	1	0	KIF5A	56258366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.802000	0.85969	1.551000	0.49450	0.558000	0.71614	GAA		0.473	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		347	397	0	0	0	1	0	347	397				
FAM221A	340277	broad.mit.edu	37	7	23740403	23740403	+	Splice_Site	SNP	A	A	T	rs138016346		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:23740403A>T	ENST00000344962.4	+	6	834		c.e6-1		FAM221A_ENST00000409994.3_Splice_Site|FAM221A_ENST00000409653.1_Splice_Site|FAM221A_ENST00000409192.3_Splice_Site	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A																		TTTCCTTGTTAGTAGGTACAA	0.328																																						ENST00000344962.4																			0											c.e6-1		family with sequence similarity 221, member A							105.0	121.0	115.0					7																	23740403		2203	4300	6503	SO:0001630	splice_region_variant	340277							g.chr7:23740403A>T		CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 46"""	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.746-1A>T	7.37:g.23740403A>T						FAM221A_ENST00000409653.1_Splice_Site|FAM221A_ENST00000409192.3_Splice_Site|FAM221A_ENST00000409994.3_Splice_Site		NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN			6	834	+								Q05CG4|Q4G0Q7|Q6P519	Splice_Site	SNP	ENST00000344962.4	37		CCDS5385.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212344	0.58452	.	.	ENSG00000188732	ENST00000409192;ENST00000344962;ENST00000409653;ENST00000409994	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8532	0.70313	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7orf46	23706928	1.000000	0.71417	0.979000	0.43373	0.889000	0.51656	2.874000	0.48483	2.307000	0.77673	0.528000	0.53228	.		0.328	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1	NM_199136	Intron	11	366	0	0	0	1	0	11	366				
C1S	716	broad.mit.edu	37	12	7172406	7172406	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:7172406A>T	ENST00000406697.1	+	9	1148	c.520A>T	c.(520-522)Aat>Tat	p.N174Y	C1S_ENST00000402681.3_Missense_Mutation_p.N7Y|C1S_ENST00000328916.3_Missense_Mutation_p.N174Y|C1S_ENST00000360817.5_Missense_Mutation_p.N174Y			P09871	C1S_HUMAN	complement component 1, s subcomponent	174					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCTGTTAGTTAATTGCAGTGG	0.423																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(520-522)Aat>Tat		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						72.0	70.0	71.0					12																	7172406		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7172406A>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.520A>T	12.37:g.7172406A>T	ENSP00000385035:p.Asn174Tyr					C1S_ENST00000402681.3_Missense_Mutation_p.N7Y|C1S_ENST00000360817.5_Missense_Mutation_p.N174Y|C1S_ENST00000328916.3_Missense_Mutation_p.N174Y	p.N174Y			P09871	C1S_HUMAN			9	1148	+			174					D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.520A>T	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209523	0.58343	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	6.17	6.17	0.99709	CUB (2);	0.000000	0.45606	D	0.000349	T	0.18841	0.0452	N	0.19112	0.55	0.48341	D	0.999634	P	0.49185	0.92	B	0.43889	0.435	T	0.01401	-1.1364	10	0.72032	D	0.01	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	174	P09871	C1S_HUMAN	Y	174;174;174;163;7;7	ENSP00000385035:N174Y;ENSP00000328173:N174Y;ENSP00000354057:N174Y;ENSP00000384171:N7Y;ENSP00000442298:N7Y	ENSP00000328173:N174Y	N	+	1	0	C1S	7042667	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	5.137000	0.64789	2.371000	0.80710	0.533000	0.62120	AAT		0.423	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		7	189	0	0	0	1	0	7	189				
DCAF17	80067	broad.mit.edu	37	2	172314880	172314880	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:172314880A>T	ENST00000375255.3	+	8	1059		c.e8-1		DCAF17_ENST00000539783.1_Splice_Site|DCAF17_ENST00000468592.1_Intron	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTTTGTTTTTAGTTCATGCAA	0.358																																						ENST00000375255.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						c.e8-1		DDB1 and CUL4 associated factor 17							94.0	89.0	91.0					2																	172314880		1853	4098	5951	SO:0001630	splice_region_variant	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172314880A>T	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.733-1A>T	2.37:g.172314880A>T						DCAF17_ENST00000468592.1_Intron|DCAF17_ENST00000539783.1_Splice_Site		NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN			8	1059	+								B2RTW5|Q53TN3|Q9H908	Splice_Site	SNP	ENST00000375255.3	37		CCDS2243.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984850	0.74474	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6994	0.77533	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF17	172023126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.803000	0.75180	2.192000	0.70111	0.477000	0.44152	.		0.358	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000	Intron	9	142	0	0	0	1	0	9	142				
TCL6	27004	broad.mit.edu	37	14	96135788	96135788	+	RNA	SNP	C	C	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:96135788C>G	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		ggatggactccatctcctgac	0.468			T	TRA@	T-ALL																																	ENST00000467865.1				Dom	yes		14	14q32.1	27004	T	T-cell leukemia/lymphoma 6			L	TRA@		T-ALL		0				large_intestine(1)|lung(7)	8																																														27004							g.chr14:96135788C>G	AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96135788C>G						RP11-1070N10.6_ENST00000461160.1_RNA							Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)	0	1821	+		all_cancers(154;0.103)							RNA	SNP	ENST00000467865.1	37																																																																																						0.468	TCL6-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000315133.1	NM_012468		3	25	0	0	0	1	0	3	25				
MAP4K3	8491	broad.mit.edu	37	2	39536662	39536662	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:39536662T>A	ENST00000263881.3	-	14	1322		c.e14-2		MAP4K3_ENST00000341681.5_Splice_Site|MAP4K3_ENST00000536018.1_Splice_Site|MAP4K3_ENST00000437545.1_Splice_Site	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3						intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CTTGGCCAACTAAAAAAGAAA	0.358																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.e14-2		mitogen-activated protein kinase kinase kinase kinase 3							85.0	87.0	86.0					2																	39536662		2203	4300	6503	SO:0001630	splice_region_variant	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39536662T>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.998-2A>T	2.37:g.39536662T>A						MAP4K3_ENST00000536018.1_Splice_Site|MAP4K3_ENST00000341681.5_Splice_Site|MAP4K3_ENST00000437545.1_Splice_Site		NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			14	1322	-		all_hematologic(82;0.211)						Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Splice_Site	SNP	ENST00000263881.3	37		CCDS1803.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.073110	0.76415	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6015	0.76628	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP4K3	39390166	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	6.604000	0.74150	2.094000	0.63399	0.477000	0.44152	.		0.358	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618	Intron	4	86	0	0	0	1	0	4	86				
RPS9	6203	broad.mit.edu	37	19	54710275	54710275	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:54710275G>T	ENST00000302907.4	+	4	524	c.352G>T	c.(352-354)Ggc>Tgc	p.G118C	RPS9_ENST00000441429.1_Missense_Mutation_p.G118C|RPS9_ENST00000391751.3_Intron|RPS9_ENST00000402367.1_Missense_Mutation_p.G118C|RPS9_ENST00000391753.2_Missense_Mutation_p.G118C|RPS9_ENST00000391752.1_Missense_Mutation_p.G118C	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	118	S4 RNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00182}.				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)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|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)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		CTTCAAGCTGGGCTTGGCCAA	0.582																																						ENST00000402367.1																			0				NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20						c.(352-354)Ggc>Tgc		ribosomal protein S9							43.0	46.0	45.0					19																	54710275		2203	4300	6503	SO:0001583	missense	6203				endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity	g.chr19:54710275G>T	U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"""S ribosomal proteins"""	10442	protein-coding gene	gene with protein product	"""40S ribosomal protein S9"""	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.352G>T	19.37:g.54710275G>T	ENSP00000302896:p.Gly118Cys					RPS9_ENST00000391753.2_Missense_Mutation_p.G118C|RPS9_ENST00000391752.1_Missense_Mutation_p.G118C|RPS9_ENST00000441429.1_Missense_Mutation_p.G118C|RPS9_ENST00000302907.4_Missense_Mutation_p.G118C|RPS9_ENST00000391751.3_Intron	p.G118C			P46781	RS9_HUMAN		GBM - Glioblastoma multiforme(193;0.18)	4	467	+	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		118			S4 RNA-binding.		A9C4C1|Q4QRK7|Q9BVZ0	Missense_Mutation	SNP	ENST00000302907.4	37	c.352G>T	CCDS12884.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820189	0.90873	.	.	ENSG00000170889	ENST00000302907;ENST00000391752;ENST00000402367;ENST00000391753;ENST00000441429	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	4.7	4.7	0.59300	Ribosomal protein S4, conserved site (1);RNA-binding S4 (4);	0.152726	0.64402	D	0.000018	D	0.85626	0.5740	H	0.98918	4.37	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.998	D	0.91380	0.5126	10	0.87932	D	0	-11.3973	15.9326	0.79675	0.0:0.0:1.0:0.0	.	118;118;118	B5MCT8;C9JM19;P46781	.;.;RS9_HUMAN	C	118	ENSP00000302896:G118C;ENSP00000375632:G118C;ENSP00000383937:G118C;ENSP00000375633:G118C;ENSP00000414314:G118C	ENSP00000302896:G118C	G	+	1	0	RPS9	59402087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.938000	0.92943	2.539000	0.85634	0.655000	0.94253	GGC		0.582	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142834.3	NM_001013		3	58	1	0	0.004672	1	0.00480703	3	58				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29628245G>A			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.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	400	0	0	0	1	0	6	400				
TARS	6897	broad.mit.edu	37	5	33467663	33467663	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:33467663A>T	ENST00000265112.3	+	19	2334		c.e19-1		TARS_ENST00000414361.2_Splice_Site|TARS_ENST00000502553.1_Splice_Site|TARS_ENST00000541634.1_Splice_Site|TARS_ENST00000455217.2_Splice_Site	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase						gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGTTTGTTTTAGTTGTTGGTG	0.408																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.e19-1		threonyl-tRNA synthetase	L-Threonine(DB00156)						59.0	53.0	55.0					5																	33467663		2203	4300	6503	SO:0001630	splice_region_variant	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33467663A>T	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.2024-1A>T	5.37:g.33467663A>T						TARS_ENST00000502553.1_Splice_Site|TARS_ENST00000541634.1_Splice_Site|TARS_ENST00000455217.2_Splice_Site|TARS_ENST00000414361.2_Splice_Site		NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			19	2334	+								A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Splice_Site	SNP	ENST00000265112.3	37		CCDS3899.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268659	0.80469	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6393	0.76984	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TARS	33503420	1.000000	0.71417	0.991000	0.47740	0.930000	0.56654	9.211000	0.95120	2.091000	0.63221	0.455000	0.32223	.		0.408	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295	Intron	5	118	0	0	0	1	0	5	118				
GEMIN8	54960	broad.mit.edu	37	X	14038421	14038421	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:14038421C>A	ENST00000380523.4	-	4	566	c.248G>T	c.(247-249)tGg>tTg	p.W83L	GEMIN8_ENST00000398355.3_Missense_Mutation_p.W83L|GEMIN8_ENST00000460203.1_5'UTR	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	83					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						GTAGTCCTGCCAGGCCACATG	0.488																																						ENST00000380523.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						c.(247-249)tGg>tTg		gem (nuclear organelle) associated protein 8							141.0	126.0	131.0					X																	14038421		2203	4300	6503	SO:0001583	missense	54960				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	g.chrX:14038421C>A	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"""family with sequence similarity 51, member A1"""	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.248G>T	X.37:g.14038421C>A	ENSP00000369895:p.Trp83Leu					GEMIN8_ENST00000398355.3_Missense_Mutation_p.W83L|GEMIN8_ENST00000460203.1_5'UTR	p.W83L	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN			4	566	-			83					C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	c.248G>T	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	c	2.299	-0.360714	0.05103	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T	0.39787	1.06;1.06	5.28	1.45	0.22620	.	1.533280	0.03118	N	0.163405	T	0.35856	0.0946	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17776	-1.0358	10	0.13853	T	0.58	.	8.6807	0.34207	0.0:0.1669:0.5092:0.324	.	83	Q9NWZ8	GEMI8_HUMAN	L	83	ENSP00000369895:W83L;ENSP00000381398:W83L	ENSP00000369894:W83L	W	-	2	0	GEMIN8	13948342	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.653000	0.24902	-0.127000	0.11661	-0.199000	0.12753	TGG		0.488	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856		183	14	1	0	1.595e-65	1	1.75253e-65	183	14				
FRYL	285527	broad.mit.edu	37	4	48523234	48523234	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:48523234T>A	ENST00000503238.1	-	52	7521		c.e52-2		FRYL_ENST00000264319.7_Splice_Site|FRYL_ENST00000358350.4_Splice_Site|FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000507873.2_Splice_Site			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACTGTTTAACTAAAAAGAGAA	0.373																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.e55-2		FRY-like							83.0	77.0	79.0					4																	48523234		1846	4091	5937	SO:0001630	splice_region_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48523234T>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7522-2A>T	4.37:g.48523234T>A						FRYL_ENST00000503238.1_Splice_Site|FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000264319.7_Splice_Site|FRYL_ENST00000507873.2_Splice_Site		NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			55	8126	-								O95640|Q8WTZ5|Q9NT40	Splice_Site	SNP	ENST00000503238.1	37		CCDS43227.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.743302	0.49151	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000514617	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7555	0.78021	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRYL	48217991	1.000000	0.71417	0.198000	0.23420	0.024000	0.10985	7.698000	0.84413	2.126000	0.65437	0.460000	0.39030	.		0.373	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		Intron	6	172	0	0	0	1	0	6	172				
DIDO1	11083	broad.mit.edu	37	20	61526240	61526240	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:61526240G>C	ENST00000266070.4	-	10	2683	c.2358C>G	c.(2356-2358)caC>caG	p.H786Q	DIDO1_ENST00000395343.1_Missense_Mutation_p.H786Q|DIDO1_ENST00000395335.2_Missense_Mutation_p.H786Q|DIDO1_ENST00000395340.1_Missense_Mutation_p.H786Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	786	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCTTTCATTGTGCAGTTTAG	0.498																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(2356-2358)caC>caG		death inducer-obliterator 1							77.0	86.0	83.0					20																	61526240		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61526240G>C	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2358C>G	20.37:g.61526240G>C	ENSP00000266070:p.His786Gln					DIDO1_ENST00000395343.1_Missense_Mutation_p.H786Q|DIDO1_ENST00000395340.1_Missense_Mutation_p.H786Q|DIDO1_ENST00000395335.2_Missense_Mutation_p.H786Q	p.H786Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			10	2683	-	Breast(26;5.68e-08)		786			TFIIS central.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.2358C>G	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886916	0.33348	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.10763	3.18;3.18;2.84;2.84	5.63	-11.3	0.00108	Transcription elongation factor S-II, central domain (1);	0.401287	0.18491	N	0.139628	T	0.02230	0.0069	N	0.03154	-0.405	0.09310	N	1	B;B	0.23806	0.091;0.011	B;B	0.19666	0.026;0.005	T	0.23655	-1.0182	10	0.16420	T	0.52	-10.4249	4.5157	0.11934	0.4523:0.3193:0.1466:0.0818	.	786;786	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	Q	786	ENSP00000266070:H786Q;ENSP00000378752:H786Q;ENSP00000378749:H786Q;ENSP00000378744:H786Q	ENSP00000266070:H786Q	H	-	3	2	DIDO1	60996685	0.000000	0.05858	0.000000	0.03702	0.448000	0.32197	-2.046000	0.01409	-1.829000	0.01201	0.561000	0.74099	CAC		0.498	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		11	112	0	0	0	1	0	11	112				
SLC4A4	8671	broad.mit.edu	37	4	72420855	72420855	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:72420855A>T	ENST00000264485.5	+	21	2811		c.e21-1		SLC4A4_ENST00000340595.3_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site|SLC4A4_ENST00000425175.1_Splice_Site	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TTTTCCTTCTAGTTTATACCC	0.323																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.e18-1		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							224.0	228.0	227.0					4																	72420855		2203	4300	6503	SO:0001630	splice_region_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72420855A>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2695-1A>T	4.37:g.72420855A>T						SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000264485.5_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site		NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		18	2758	+								C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Splice_Site	SNP	ENST00000264485.5	37		CCDS43236.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281305	0.80692	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3473	0.83146	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A4	72639719	1.000000	0.71417	0.994000	0.49952	0.795000	0.44927	9.253000	0.95501	2.320000	0.78422	0.528000	0.53228	.		0.323	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	Intron	10	680	0	0	0	1	0	10	680				
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C							extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGGTTAAAACTAAATAACCAA	0.303																																						ENST00000397452.1																			0											c.e8-2		BPI fold containing family C							62.0	60.0	61.0					22																	32833840		2203	4300	6503	SO:0001630	splice_region_variant	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32833840T>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.656-2A>T	22.37:g.32833840T>A						BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site				Q8NFQ6	BPIL2_HUMAN			8	766	-								A2RRF1	Splice_Site	SNP	ENST00000397452.1	37		CCDS13906.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868262	0.72065	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5975	0.56478	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BPIFC	31163840	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.171000	0.58236	2.289000	0.77006	0.533000	0.62120	.		0.303	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	Intron	6	179	0	0	0	1	0	6	179				
RSPH3	83861	broad.mit.edu	37	6	159420497	159420497	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:159420497C>T	ENST00000252655.1	-	1	701	c.512G>A	c.(511-513)cGc>cAc	p.R171H	RSPH3_ENST00000449822.1_Missense_Mutation_p.R29H|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RSPH3_ENST00000367069.2_Missense_Mutation_p.R29H|RP1-111C20.4_ENST00000607796.1_RNA|RSPH3_ENST00000297262.3_Missense_Mutation_p.R171H	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	171										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GTAACGGCTGCGCTGGCAGGG	0.687																																						ENST00000367069.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23						c.(85-87)cGc>cAc		radial spoke 3 homolog (Chlamydomonas)							33.0	37.0	36.0					6																	159420497		1958	3987	5945	SO:0001583	missense	83861							g.chr6:159420497C>T	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.512G>A	6.37:g.159420497C>T	ENSP00000252655:p.Arg171His					RSPH3_ENST00000449822.1_Missense_Mutation_p.R29H|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000252655.1_Missense_Mutation_p.R171H|RSPH3_ENST00000297262.3_Missense_Mutation_p.R171H	p.R29H			Q86UC2	RSPH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	1	722	-		Breast(66;0.00519)|Ovarian(120;0.123)	171					Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	c.86G>A	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250218	0.95305	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.22134	2.07;1.97;2.14;2.06	5.25	5.25	0.73442	.	0.120206	0.64402	D	0.000018	T	0.24122	0.0584	L	0.34521	1.04	0.28250	N	0.925305	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.973	T	0.04017	-1.0984	10	0.87932	D	0	-25.034	14.3307	0.66553	0.0:1.0:0.0:0.0	.	171;171	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	H	29;29;171;171	ENSP00000356036:R29H;ENSP00000393195:R29H;ENSP00000252655:R171H;ENSP00000297262:R171H	ENSP00000252655:R171H	R	-	2	0	RSPH3	159340485	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.733000	0.55029	2.448000	0.82819	0.563000	0.77884	CGC		0.687	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		6	16	0	0	0	1	0	6	16				
CNTNAP2	26047	broad.mit.edu	37	7	146829568	146829568	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:146829568C>A	ENST00000361727.3	+	8	1831	c.1315C>A	c.(1315-1317)Cag>Aag	p.Q439K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	439	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.Q439K(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAACATCACACAGACCAAGAT	0.423										HNSCC(39;0.1)																												ENST00000361727.3																			1	Substitution - Missense(1)	p.Q439K(1)	lung(1)	NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1315-1317)Cag>Aag		contactin associated protein-like 2							125.0	105.0	112.0					7																	146829568		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829568C>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1315C>A	7.37:g.146829568C>A	ENSP00000354778:p.Gln439Lys	HNSCC(39;0.1)					p.Q439K	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1831	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	439			Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1315C>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	1.550	-0.539453	0.04053	.	.	ENSG00000174469	ENST00000361727	T	0.78707	-1.2	5.7	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.320352	0.23230	N	0.050470	T	0.53351	0.1791	N	0.10874	0.06	0.18873	N	0.999988	B	0.12013	0.005	B	0.18263	0.021	T	0.38824	-0.9643	10	0.02654	T	1	.	9.1632	0.37035	0.1499:0.7631:0.0:0.087	.	439	Q9UHC6	CNTP2_HUMAN	K	439	ENSP00000354778:Q439K	ENSP00000354778:Q439K	Q	+	1	0	CNTNAP2	146460501	0.932000	0.31603	0.968000	0.41197	0.977000	0.68977	2.276000	0.43408	2.686000	0.91538	0.591000	0.81541	CAG		0.423	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			6	220	1	0	0.0293803	1	0.029884	6	220				
TBX1	6899	broad.mit.edu	37	22	19752564	19752564	+	Silent	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:19752564C>T	ENST00000329705.7	+	6	897	c.768C>T	c.(766-768)gcC>gcT	p.A256A	TBX1_ENST00000332710.4_Silent_p.A256A|TBX1_ENST00000359500.3_Silent_p.A256A	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	256					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				AGAAATATGCCGAGGAGAACT	0.542																																						ENST00000332710.4																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(766-768)gcC>gcT		T-box 1							104.0	99.0	100.0					22																	19752564		2203	4300	6503	SO:0001819	synonymous_variant	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19752564C>T	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.768C>T	22.37:g.19752564C>T						TBX1_ENST00000359500.3_Silent_p.A256A|TBX1_ENST00000329705.7_Silent_p.A256A	p.A256A	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN			6	897	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	256					C6G493|C6G494|O43436|Q96RJ2	Silent	SNP	ENST00000329705.7	37	c.768C>T	CCDS13766.1																																																																																				0.542	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		3	91	0	0	0	1	0	3	91				
KATNA1	11104	broad.mit.edu	37	6	149944257	149944257	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:149944257A>T	ENST00000335647.5	-	3	527	c.483T>A	c.(481-483)aaT>aaA	p.N161K	KATNA1_ENST00000335643.8_Missense_Mutation_p.N161K|KATNA1_ENST00000494504.1_5'Flank|KATNA1_ENST00000367411.2_Missense_Mutation_p.N161K					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		CTCTTCCTTTATTCTGTTCTT	0.323																																						ENST00000367411.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(481-483)aaT>aaA		katanin p60 (ATPase containing) subunit A 1							130.0	109.0	116.0					6																	149944257		2203	4300	6503	SO:0001583	missense	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149944257A>T	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.483T>A	6.37:g.149944257A>T	ENSP00000335106:p.Asn161Lys					KATNA1_ENST00000335647.5_Missense_Mutation_p.N161K|KATNA1_ENST00000335643.8_Missense_Mutation_p.N161K	p.N161K	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	4	741	-		Ovarian(120;0.0164)	161			Interaction with microtubule.			Missense_Mutation	SNP	ENST00000335647.5	37	c.483T>A	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.518401	0.27211	.	.	ENSG00000186625	ENST00000335647;ENST00000335643;ENST00000367411;ENST00000444282;ENST00000420200	D;D;D;D	0.95342	-3.27;-3.37;-3.27;-3.68	5.88	3.42	0.39159	.	1.071620	0.06966	N	0.817219	T	0.71256	0.3318	N	0.01874	-0.695	0.34204	D	0.67354	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.49466	-0.8937	9	.	.	.	.	8.1869	0.31343	0.8146:0.0:0.0659:0.1195	.	161;161;161	A8K7S5;O75449-2;O75449	.;.;KTNA1_HUMAN	K	161	ENSP00000335106:N161K;ENSP00000335180:N161K;ENSP00000356381:N161K;ENSP00000390322:N161K	.	N	-	3	2	KATNA1	149985950	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	1.407000	0.34657	1.019000	0.39547	0.482000	0.46254	AAT		0.323	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044		4	100	0	0	0	1	0	4	100				
F5	2153	broad.mit.edu	37	1	169487716	169487716	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:169487716T>C	ENST00000367797.3	-	23	6480	c.6279A>G	c.(6277-6279)ggA>ggG	p.G2093G	F5_ENST00000367796.3_Silent_p.G2098G	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2093	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCCAGTAATCTCCCCACCAAG	0.463																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(6292-6294)ggA>ggG		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						149.0	147.0	148.0					1																	169487716		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169487716T>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6279A>G	1.37:g.169487716T>C						F5_ENST00000367797.3_Silent_p.G2093G	p.G2098G			P12259	FA5_HUMAN			23	6495	-	all_hematologic(923;0.208)		2093			F5/8 type C 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.6294A>G	CCDS1281.1																																																																																				0.463	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		3	101	0	0	0	1	0	3	101				
DENND6A	201627	broad.mit.edu	37	3	57644909	57644909	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:57644909T>A	ENST00000311128.5	-	8	770		c.e8-2			NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A						positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AATCCGTACCTAAAAGAAAGA	0.403																																						ENST00000311128.5																			0											c.e8-2		DENN/MADD domain containing 6A							146.0	139.0	142.0					3																	57644909		2203	4300	6503	SO:0001630	splice_region_variant	201627							g.chr3:57644909T>A	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.700-2A>T	3.37:g.57644909T>A								NM_152678.2	NP_689891.1					8	770	-								Q7Z5T4|Q8N235|Q8TEG8	Splice_Site	SNP	ENST00000311128.5	37		CCDS33773.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500571	0.64298	.	.	ENSG00000174839	ENST00000311128	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0684	0.80907	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM116A	57619949	1.000000	0.71417	0.993000	0.49108	0.660000	0.38997	5.985000	0.70556	2.272000	0.75746	0.460000	0.39030	.		0.403	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678	Intron	7	297	0	0	0	1	0	7	297				
NUTM1	256646	broad.mit.edu	37	15	34642995	34642995	+	Silent	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:34642995C>T	ENST00000333756.4	+	3	971	c.816C>T	c.(814-816)agC>agT	p.S272S	NUTM1_ENST00000438749.3_Silent_p.S290S|NUTM1_ENST00000537011.1_Silent_p.S300S	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	272						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGCACACCAGCAACTTTGACC	0.567																																						ENST00000537011.1																			0											c.(898-900)agC>agT		NUT midline carcinoma, family member 1							95.0	76.0	83.0					15																	34642995		2201	4298	6499	SO:0001819	synonymous_variant	256646							g.chr15:34642995C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.816C>T	15.37:g.34642995C>T						NUTM1_ENST00000333756.4_Silent_p.S272S|NUTM1_ENST00000438749.3_Silent_p.S290S	p.S300S							4	1282	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.900C>T	CCDS32190.1																																																																																				0.567	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		3	82	0	0	0	1	0	3	82				
SMC5	23137	broad.mit.edu	37	9	72912910	72912910	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:72912910T>A	ENST00000361138.5	+	9	1140	c.1082T>A	c.(1081-1083)gTa>gAa	p.V361E		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	361					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GCTTTAATAGTAAAGCAAAAT	0.363																																						ENST00000361138.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						c.(1081-1083)gTa>gAa		structural maintenance of chromosomes 5							97.0	101.0	100.0					9																	72912910		2203	4299	6502	SO:0001583	missense	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72912910T>A	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.1082T>A	9.37:g.72912910T>A	ENSP00000354957:p.Val361Glu						p.V361E	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN			9	1140	+			361					A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	c.1082T>A	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.976919	0.53720	.	.	ENSG00000198887	ENST00000361138	T	0.16073	2.37	5.92	5.92	0.95590	RecF/RecN/SMC (1);	0.208186	0.43260	D	0.000593	T	0.09423	0.0232	N	0.03324	-0.35	0.42587	D	0.993238	P	0.50369	0.934	P	0.45971	0.499	T	0.15150	-1.0447	10	0.02654	T	1	-17.5096	16.3527	0.83220	0.0:0.0:0.0:1.0	.	361	Q8IY18	SMC5_HUMAN	E	361	ENSP00000354957:V361E	ENSP00000354957:V361E	V	+	2	0	SMC5	72102730	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.489000	0.73641	2.268000	0.75426	0.482000	0.46254	GTA		0.363	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		11	665	0	0	0	1	0	11	665				
STRIP2	57464	broad.mit.edu	37	7	129096278	129096278	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:129096278A>T	ENST00000249344.2	+	9	874		c.e9-1		STRIP2_ENST00000435494.2_Splice_Site	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2						cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											TTTCTTCCTTAGTTTACCCTC	0.517																																						ENST00000249344.2																			0											c.e9-1		striatin interacting protein 2							54.0	57.0	56.0					7																	129096278		2203	4300	6503	SO:0001630	splice_region_variant	57464							g.chr7:129096278A>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.835-1A>T	7.37:g.129096278A>T						STRIP2_ENST00000435494.2_Splice_Site		NM_020704.2	NP_065755.1					9	874	+								Q8WUZ4	Splice_Site	SNP	ENST00000249344.2	37		CCDS34752.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.597735	0.87055	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9834	0.71327	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM40B	128883514	1.000000	0.71417	0.949000	0.38748	0.924000	0.55760	8.875000	0.92372	2.226000	0.72624	0.459000	0.35465	.		0.517	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336	Intron	5	158	0	0	0	1	0	5	158				
ZMYM6	9204	broad.mit.edu	37	1	35476132	35476132	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:35476132C>A	ENST00000357182.4	-	10	1635	c.1408G>T	c.(1408-1410)Gca>Tca	p.A470S	ZMYM6_ENST00000487874.1_Missense_Mutation_p.A470S|ZMYM6_ENST00000373340.2_Missense_Mutation_p.A470S|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	470					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TCACACATTGCCACAACTTTA	0.378																																						ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(1408-1410)Gca>Tca		zinc finger, MYM-type 6							145.0	138.0	141.0					1																	35476132		2203	4300	6503	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35476132C>A	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1408G>T	1.37:g.35476132C>A	ENSP00000349708:p.Ala470Ser					ZMYM6_ENST00000487874.1_Missense_Mutation_p.A470S|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.A470S	p.A470S	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN			10	1635	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	470					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.1408G>T	CCDS387.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186303	0.78789	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.22743	1.94;3.11	5.24	5.24	0.73138	Zinc finger, MYM-type (1);	0.297370	0.36338	N	0.002658	T	0.38295	0.1035	L	0.43923	1.385	0.45046	D	0.998061	D;D;D	0.71674	0.994;0.998;0.997	D;D;D	0.75484	0.926;0.986;0.939	T	0.01108	-1.1449	10	0.21014	T	0.42	-4.7555	18.3537	0.90348	0.0:1.0:0.0:0.0	.	373;470;470	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	S	470	ENSP00000362437:A470S;ENSP00000349708:A470S	ENSP00000349708:A470S	A	-	1	0	ZMYM6	35248719	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	2.729000	0.47327	2.890000	0.99128	0.650000	0.86243	GCA		0.378	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		6	105	1	0	0.217242	1	0.21847	6	105				
PHF3	23469	broad.mit.edu	37	6	64389899	64389899	+	Splice_Site	SNP	A	A	T	rs200623505		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:64389899A>T	ENST00000262043.3	+	3	584		c.e3-1		PHF3_ENST00000509330.1_Splice_Site|PHF3_ENST00000393387.1_Splice_Site			Q92576	PHF3_HUMAN	PHD finger protein 3						multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTTTTTTTCTAGTTGTTGGTC	0.308																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.e3-1		PHD finger protein 3							84.0	85.0	84.0					6																	64389899		2203	4300	6503	SO:0001630	splice_region_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64389899A>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.245-1A>T	6.37:g.64389899A>T						PHF3_ENST00000509330.1_Splice_Site|PHF3_ENST00000393387.1_Splice_Site				Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	584	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)							A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Splice_Site	SNP	ENST00000262043.3	37		CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.369739	0.61624	.	.	ENSG00000118482	ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	.	.	.	5.87	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0911	0.48117	0.9279:0.0:0.0721:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHF3	64447858	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.923000	0.63412	1.053000	0.40415	0.482000	0.46254	.		0.308	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		Intron	14	154	0	0	0	1	0	14	154				
PSAP	5660	broad.mit.edu	37	10	73587898	73587898	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr10:73587898C>A	ENST00000394936.3	-	6	740	c.593G>T	c.(592-594)tGc>tTc	p.C198F	PSAP_ENST00000394934.1_Missense_Mutation_p.C198F			P07602	SAP_HUMAN	prosaposin	198	Saposin B-type 2. {ECO:0000255|PROSITE- ProRule:PRU00415}.				blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GCAGTCCTGGCAAACGTCCCC	0.488																																						ENST00000394936.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(592-594)tGc>tTc		prosaposin							175.0	136.0	149.0					10																	73587898		2203	4300	6503	SO:0001583	missense	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73587898C>A	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.593G>T	10.37:g.73587898C>A	ENSP00000378394:p.Cys198Phe					PSAP_ENST00000394934.1_Missense_Mutation_p.C198F	p.C198F			P07602	SAP_HUMAN			6	740	-			198			Saposin B-type 2.		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.593G>T	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512628	0.85389	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	D;D	0.99998	-12.46;-12.46	5.6	5.6	0.85130	Saposin-like (2);Saposin-like type B, 1 (1);Saposin B (2);	0.092737	0.85682	D	0.000000	D	0.99988	0.9998	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98505	1.0616	10	0.87932	D	0	-8.9586	19.597	0.95544	0.0:1.0:0.0:0.0	.	198	P07602	SAP_HUMAN	F	198;198;198;198;201;123	ENSP00000378394:C198F;ENSP00000378392:C198F	ENSP00000350063:C198F	C	-	2	0	PSAP	73257904	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	7.058000	0.76676	2.802000	0.96397	0.542000	0.68232	TGC		0.488	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		9	241	1	0	0.00621372	1	0.00635656	9	241				
NKTR	4820	broad.mit.edu	37	3	42680994	42680994	+	Silent	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:42680994T>A	ENST00000232978.8	+	13	3986	c.3798T>A	c.(3796-3798)atT>atA	p.I1266I	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1266					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)		GAATAGAAATTAAAAGCAAAA	0.443																																						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.(3796-3798)atT>atA		natural killer-tumor recognition sequence							82.0	88.0	86.0					3																	42680994		2203	4300	6503	SO:0001819	synonymous_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680994T>A		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.3798T>A	3.37:g.42680994T>A						RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.I1266I	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3986	+			1266						Silent	SNP	ENST00000232978.8	37	c.3798T>A	CCDS2702.1																																																																																				0.443	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		6	246	0	0	0	1	0	6	246				
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:142168862A>G	ENST00000454561.2	-	0	183									T cell receptor beta variable 5-4																		TGGGCCAGGCAGCACTGCACC	0.597																																						ENST00000454561.2																			0																				28.0	28.0	28.0					7																	142168862		1933	4131	6064			28611							g.chr7:142168862A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168862A>G														0	183	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.597	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		11	45	0	0	0	1	0	11	45				
NPL	80896	broad.mit.edu	37	1	182794914	182794914	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:182794914A>T	ENST00000367553.1	+	11	782		c.e11-1		NPL_ENST00000367554.3_Splice_Site|NPL_ENST00000463899.1_Splice_Site|NPL_ENST00000258317.2_Splice_Site|NPL_ENST00000367552.2_Splice_Site|NPL_ENST00000367555.1_Splice_Site	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)						carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						GTTCTTTTCTAGTTTTGTATC	0.338																																						ENST00000367554.3																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						c.e10-1		N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)							132.0	142.0	138.0					1																	182794914		2203	4300	6503	SO:0001630	splice_region_variant	80896				carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity	g.chr1:182794914A>T	AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.739-1A>T	1.37:g.182794914A>T						NPL_ENST00000463899.1_Splice_Site|NPL_ENST00000367553.1_Splice_Site|NPL_ENST00000367555.1_Splice_Site|NPL_ENST00000258317.2_Splice_Site|NPL_ENST00000367552.2_Splice_Site		NM_001200050.1	NP_001186979.1	Q9BXD5	NPL_HUMAN			10	999	+								B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Splice_Site	SNP	ENST00000367553.1	37		CCDS1350.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.719870	0.68844	.	.	ENSG00000135838	ENST00000367555;ENST00000445965;ENST00000367554;ENST00000367553;ENST00000367552;ENST00000258317	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0794	0.64912	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPL	181061537	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	5.342000	0.65970	2.148000	0.66965	0.460000	0.39030	.		0.338	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769	Intron	8	313	0	0	0	1	0	8	313				
GYS1	2997	broad.mit.edu	37	19	49473955	49473955	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:49473955G>A	ENST00000323798.3	-	14	1853	c.1657C>T	c.(1657-1659)Ctt>Ttt	p.L553F	GYS1_ENST00000544287.1_Missense_Mutation_p.L186F|GYS1_ENST00000541188.1_Missense_Mutation_p.L473F|GYS1_ENST00000263276.6_Missense_Mutation_p.L489F	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	553					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)	p.L553F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CGCCGGTCAAGAATGTAGATA	0.587											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000323798.3																			1	Substitution - Missense(1)	p.L553F(1)	upper_aerodigestive_tract(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1657-1659)Ctt>Ttt		glycogen synthase 1 (muscle)							35.0	38.0	37.0					19																	49473955		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49473955G>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1657C>T	19.37:g.49473955G>A	ENSP00000317904:p.Leu553Phe		OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962	GYS1_ENST00000541188.1_Missense_Mutation_p.L473F|GYS1_ENST00000263276.6_Missense_Mutation_p.L489F|GYS1_ENST00000544287.1_Missense_Mutation_p.L186F	p.L553F	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	14	1853	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	553					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.1657C>T	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214232	0.79352	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.49	4.45	0.53987	.	0.071951	0.56097	D	0.000021	T	0.70098	0.3185	L	0.41492	1.28	0.80722	D	1	D;P;D	0.56968	0.978;0.952;0.96	P;P;P	0.58077	0.765;0.697;0.832	T	0.73313	-0.4022	10	0.87932	D	0	-18.3996	12.1582	0.54089	0.0834:0.0:0.9166:0.0	.	473;489;553	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	F	553;489;473;186	ENSP00000317904:L553F;ENSP00000263276:L489F;ENSP00000437922:L473F;ENSP00000444004:L186F	ENSP00000263276:L489F	L	-	1	0	GYS1	54165767	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	2.871000	0.48459	1.461000	0.47929	0.561000	0.74099	CTT		0.587	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		9	50	0	0	0	1	0	9	50				
HERC2	8924	broad.mit.edu	37	15	28491151	28491151	+	Silent	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:28491151G>A	ENST00000261609.7	-	23	3561	c.3453C>T	c.(3451-3453)ctC>ctT	p.L1151L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTCTTGCATGAGACCAGCAT	0.423																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(3451-3453)ctC>ctT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							102.0	89.0	94.0					15																	28491151		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28491151G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3453C>T	15.37:g.28491151G>A							p.L1151L	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	23	3561	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1151						Silent	SNP	ENST00000261609.7	37	c.3453C>T	CCDS10021.1																																																																																				0.423	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		118	122	0	0	0	1	0	118	122				
JMJD7	100137047	broad.mit.edu	37	15	42120363	42120363	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:42120363G>A	ENST00000397299.4	+	1	81	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	JMJD7_ENST00000405106.2_3'UTR|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R14Q|RP11-23P13.4_ENST00000510176.1_RNA|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.R14Q|RP11-23P13.4_ENST00000512295.1_RNA|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.R14Q|JMJD7_ENST00000408047.1_5'UTR	NM_001114632.1	NP_001108104.1	P0C870	JMJD7_HUMAN	jumonji domain containing 7	14										NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						AGCGAGTTACGAGAATTCCCG	0.716																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(40-42)cGa>cAa									17.0	20.0	19.0					15																	42120363		2199	4299	6498	SO:0001583	missense	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42120363G>A		CCDS45240.1	15q15.1	2011-02-10			ENSG00000243789	ENSG00000243789			34397	protein-coding gene	gene with protein product							Standard	NM_001114632		Approved			P0C870	OTTHUMG00000156810	ENST00000397299.4:c.41G>A	15.37:g.42120363G>A	ENSP00000380467:p.Arg14Gln					JMJD7-PLA2G4B_ENST00000542534.1_Missense_Mutation_p.R14Q|JMJD7_ENST00000397299.4_Missense_Mutation_p.R14Q|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R14Q|JMJD7_ENST00000405106.2_3'UTR|JMJD7_ENST00000408047.1_5'UTR	p.R14Q	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			1	50	+			0			C2.		A5D6V5|O95712|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000397299.4	37	c.41G>A	CCDS45240.1	.	.	.	.	.	.	.	.	.	.	.	17.26	3.345350	0.61073	.	.	ENSG00000243789;ENSG00000168970;ENSG00000168970;ENSG00000168970	ENST00000397299;ENST00000542534;ENST00000382448;ENST00000342159	T;T;T;T	0.31510	1.49;1.49;5.08;4.77	4.98	2.84	0.33178	.	0.381596	0.19280	N	0.118171	T	0.15392	0.0371	N	0.19112	0.55	0.21740	N	0.999563	B;B;B	0.18461	0.028;0.018;0.002	B;B;B	0.10450	0.005;0.002;0.001	T	0.27191	-1.0081	10	0.08179	T	0.78	-1.1759	8.0018	0.30301	0.099:0.0:0.7312:0.1698	.	14;14;14	P0C869-7;P0C869-6;P0C870	.;.;JMJD7_HUMAN	Q	14	ENSP00000380467:R14Q;ENSP00000441905:R14Q;ENSP00000371886:R14Q;ENSP00000342785:R14Q	ENSP00000380467:R14Q	R	+	2	0	JMJD7-PLA2G4B;JMJD7	39907655	0.860000	0.29831	0.973000	0.42090	0.634000	0.38068	0.430000	0.21428	1.072000	0.40860	0.561000	0.74099	CGA		0.716	JMJD7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326082.1	NM_001114632		5	5	0	0	0	1	0	5	5				
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:142168890C>T	ENST00000454561.2	-	0	155									T cell receptor beta variable 5-4																		GGGCTTGGTCCTCCTGGGGAA	0.592																																						ENST00000454561.2																			0																				25.0	26.0	26.0					7																	142168890		1957	4131	6088			28611							g.chr7:142168890C>T	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168890C>T														0	155	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.592	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		13	43	0	0	0	1	0	13	43				
NPAS3	64067	broad.mit.edu	37	14	33836390	33836390	+	Splice_Site	SNP	A	A	T	rs202236525		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:33836390A>T	ENST00000356141.4	+	4	385		c.e4-1		NPAS3_ENST00000548645.1_Splice_Site|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000341321.4_Splice_Site|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000346562.2_Intron			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3						locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTTTCTTTTAAGTTATAGGTG	0.368																																						ENST00000548645.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.e3-1		neuronal PAS domain protein 3							40.0	40.0	40.0					14																	33836390		2203	4300	6503	SO:0001630	splice_region_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:33836390A>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.386-1A>T	14.37:g.33836390A>T						NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000356141.4_Splice_Site|NPAS3_ENST00000341321.4_Splice_Site				Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	3	340	+	Breast(36;0.0102)|Hepatocellular(127;0.133)							Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Splice_Site	SNP	ENST00000356141.4	37		CCDS53891.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008521	0.75046	.	.	ENSG00000151322	ENST00000551634;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798;ENST00000551008;ENST00000546849	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6625	0.77199	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPAS3	32906141	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.499000	0.81566	2.107000	0.64212	0.533000	0.62120	.		0.368	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1		Intron	6	76	0	0	0	1	0	6	76				
SECISBP2L	9728	broad.mit.edu	37	15	49288581	49288581	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:49288581A>T	ENST00000559471.1	-	17	2869	c.2606T>A	c.(2605-2607)gTa>gAa	p.V869E	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.V824E|Y_RNA_ENST00000384377.1_RNA	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	869							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTTTTCATTTACTTCAGAGAT	0.343																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(2605-2607)gTa>gAa		SECIS binding protein 2-like							107.0	107.0	107.0					15																	49288581		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49288581A>T	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2606T>A	15.37:g.49288581A>T	ENSP00000453854:p.Val869Glu					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.V824E	p.V869E	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			17	2869	-			869					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.2606T>A	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.426671	0.83667	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.93019	-3.15	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.92476	0.7611	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.68943	0.915;0.961	D	0.88885	0.3342	10	0.02654	T	1	.	14.7353	0.69412	1.0:0.0:0.0:0.0	.	869;824	Q93073;Q93073-2	SBP2L_HUMAN;.	E	824;869	ENSP00000261847:V824E	ENSP00000261847:V824E	V	-	2	0	SECISBP2L	47075873	1.000000	0.71417	0.972000	0.41901	0.995000	0.86356	8.737000	0.91562	2.079000	0.62486	0.528000	0.53228	GTA		0.343	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		6	262	0	0	0	1	0	6	262				
SAMD9	54809	broad.mit.edu	37	7	92733656	92733656	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:92733656T>C	ENST00000379958.2	-	3	2024	c.1755A>G	c.(1753-1755)ggA>ggG	p.G585G		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	585						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GATCTTTCCATCCCTGAAATA	0.378																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(1753-1755)ggA>ggG		sterile alpha motif domain containing 9							138.0	132.0	134.0					7																	92733656		2203	4300	6503	SO:0001819	synonymous_variant	54809					cytoplasm		g.chr7:92733656T>C	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1755A>G	7.37:g.92733656T>C							p.G585G	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	2024	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		585					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	c.1755A>G	CCDS34680.1																																																																																				0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		9	280	0	0	0	1	0	9	280				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		6	153	0	0	0	1	0	6	153				
SLC9A8	23315	broad.mit.edu	37	20	48467338	48467338	+	Intron	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:48467338A>T	ENST00000361573.2	+	7	576				SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Intron|SLC9A8_ENST00000417961.1_Missense_Mutation_p.I192F			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8						ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGTGTGTTTTATTTTACAGGC	0.358																																						ENST00000417961.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(574-576)Att>Ttt		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8							105.0	96.0	99.0					20																	48467338		2203	4300	6503	SO:0001627	intron_variant	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48467338A>T	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.535-9A>T	20.37:g.48467338A>T						SLC9A8_ENST00000361573.2_Intron|SLC9A8_ENST00000539601.1_Intron|SLC9A8_ENST00000541138.1_Intron	p.I192F	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		7	784	+			178					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	c.574A>T	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.533412	0.64972	.	.	ENSG00000197818	ENST00000417961	T	0.65178	-0.14	5.4	4.18	0.49190	.	.	.	.	.	T	0.62060	0.2397	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63116	-0.6709	6	0.48119	T	0.1	.	5.367	0.16119	0.7133:0.0:0.0861:0.2007	.	.	.	.	F	192	ENSP00000416418:I192F	ENSP00000416418:I192F	I	+	1	0	SLC9A8	47900745	0.976000	0.34144	1.000000	0.80357	0.994000	0.84299	0.316000	0.19469	2.158000	0.67659	0.528000	0.53228	ATT		0.358	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		5	101	0	0	0	1	0	5	101				
ZNF567	163081	broad.mit.edu	37	19	37211377	37211377	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:37211377C>T	ENST00000536254.2	+	6	1973	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000585696.1_Missense_Mutation_p.T553M|ZNF567_ENST00000588311.1_Missense_Mutation_p.T553M|ZNF567_ENST00000360729.4_Missense_Mutation_p.T553M|ZNF567_ENST00000392163.2_Missense_Mutation_p.T553M			Q8N184	ZN567_HUMAN	zinc finger protein 567	584					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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAACTCATACGGGAGAGAAA	0.408																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1657-1659)aCg>aTg		zinc finger protein 567							57.0	60.0	59.0					19																	37211377		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37211377C>T	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1751C>T	19.37:g.37211377C>T	ENSP00000441838:p.Thr584Met					ZNF567_ENST00000588311.1_Missense_Mutation_p.T553M|ZNF567_ENST00000536254.2_Missense_Mutation_p.T584M|ZNF567_ENST00000360729.4_Missense_Mutation_p.T553M|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.T553M	p.T553M			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2888	+	Esophageal squamous(110;0.198)		584					B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.1658C>T		.	.	.	.	.	.	.	.	.	.	C	15.42	2.828847	0.50845	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.26373	1.74;1.74;1.74	4.98	2.72	0.32119	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.166361	0.29233	N	0.012752	T	0.28366	0.0701	M	0.62266	1.93	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.46685	0.496;0.524	T	0.09975	-1.0650	10	0.87932	D	0	.	7.872	0.29571	0.1607:0.7503:0.0:0.089	.	584;553	Q8N184;F8WEL6	ZN567_HUMAN;.	M	584;528;553;583;553	ENSP00000441838:T584M;ENSP00000353957:T553M;ENSP00000376003:T553M	ENSP00000353957:T553M	T	+	2	0	ZNF567	41903217	0.291000	0.24352	0.991000	0.47740	0.993000	0.82548	4.221000	0.58574	1.463000	0.47967	0.561000	0.74099	ACG		0.408	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		5	129	0	0	0	1	0	5	129				
SERPINB4	6318	broad.mit.edu	37	18	61306910	61306910	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr18:61306910A>T	ENST00000341074.5	-	6	685	c.570T>A	c.(568-570)ttT>ttA	p.F190L	SERPINB4_ENST00000356424.6_Missense_Mutation_p.F190L	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	190					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TTTCTTTTTTAAATTTATTCT	0.294																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(568-570)ttT>ttA		serpin peptidase inhibitor, clade B (ovalbumin), member 4							54.0	56.0	56.0					18																	61306910		2202	4298	6500	SO:0001583	missense	6318							g.chr18:61306910A>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.570T>A	18.37:g.61306910A>T	ENSP00000343445:p.Phe190Leu					SERPINB4_ENST00000356424.6_Missense_Mutation_p.F190L	p.F190L	NM_002974.2	NP_002965.1					6	685	-								A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.570T>A	CCDS11986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.41|16.41	3.116345|3.116345	0.56505|0.56505	.|.	.|.	ENSG00000206073|ENSG00000206073	ENST00000341074;ENST00000356424;ENST00000436264|ENST00000413673	D;D;D|.	0.94897|.	-3.55;-3.55;-3.55|.	4.27|4.27	1.78|1.78	0.24846|0.24846	Serpin domain (3);|.	0.000000|.	0.40554|.	N|.	0.001075|.	T|.	0.77232|.	0.4100|.	H|H	0.98155|0.98155	4.16|4.16	0.24401|0.24401	N|N	0.994706|0.994706	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|.	0.67707|.	-0.5601|.	10|.	0.87932|.	D|.	0|.	.|.	8.1516|8.1516	0.31143|0.31143	0.7447:0.0:0.2553:0.0|0.7447:0.0:0.2553:0.0	.|.	190;190|.	P48594;Q9BYF7|.	SPB4_HUMAN;.|.	L|X	190;190;147|192	ENSP00000343445:F190L;ENSP00000348795:F190L;ENSP00000399796:F147L|.	ENSP00000343445:F190L|.	F|L	-|-	3|2	2|0	SERPINB4|SERPINB4	59457890|59457890	0.883000|0.883000	0.30277|0.30277	0.011000|0.011000	0.14972|0.14972	0.008000|0.008000	0.06430|0.06430	1.910000|1.910000	0.39927|0.39927	0.188000|0.188000	0.20168|0.20168	0.491000|0.491000	0.48974|0.48974	TTT|TTA		0.294	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		4	116	0	0	0	1	0	4	116				
ASAP1	50807	broad.mit.edu	37	8	131127939	131127939	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr8:131127939C>T	ENST00000518721.1	-	23	2334	c.2107G>A	c.(2107-2109)Gta>Ata	p.V703I	ASAP1_ENST00000357668.1_Missense_Mutation_p.V703I	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	703					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCATATTCTACGTGGACGTGT	0.403																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2107-2109)Gta>Ata		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							269.0	239.0	249.0					8																	131127939		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131127939C>T	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2107G>A	8.37:g.131127939C>T	ENSP00000429900:p.Val703Ile					ASAP1_ENST00000518721.1_Missense_Mutation_p.V703I	p.V703I			Q9ULH1	ASAP1_HUMAN			22	2134	-			703					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.2107G>A	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.803533|4.803533	0.90623|0.90623	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124;ENST00000519483|ENST00000343135;ENST00000357668;ENST00000518721	.|T;T	.|0.07688	.|3.17;3.17	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Ankyrin repeat-containing domain (1);	.|0.119358	.|0.56097	.|D	.|0.000035	T|T	0.23289|0.23289	0.0563|0.0563	L|L	0.49640|0.49640	1.575|1.575	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.63880	.|0.988;0.988;0.993	.|D;D;D	.|0.74023	.|0.97;0.97;0.982	T|T	0.00692|0.00692	-1.1607|-1.1607	5|10	.|0.26408	.|T	.|0.33	.|.	18.0242|18.0242	0.89263|0.89263	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|703;703;706	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	H|I	523;116|706;703;703	.|ENSP00000350297:V703I;ENSP00000429900:V703I	.|ENSP00000344591:V706I	R|V	-|-	2|1	0|0	ASAP1|ASAP1	131197121|131197121	1.000000|1.000000	0.71417|0.71417	0.918000|0.918000	0.36340|0.36340	0.907000|0.907000	0.53573|0.53573	7.729000|7.729000	0.84864|0.84864	2.581000|2.581000	0.87130|0.87130	0.650000|0.650000	0.86243|0.86243	CGT|GTA		0.403	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		32	324	0	0	0	0.013726	0	32	324				
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587													.|||	668	0.133387	0.0386	0.1499	5008	,	,		18807	0.4087		0.0537	False		,,,				2504	0.0481					ENST00000564451.1																			3	Substitution - Missense(3)	p.R105H(3)	urinary_tract(1)|prostate(1)|kidney(1)																																																197331							g.chr16:90161578G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161578G>A						TUBB8P7_ENST00000567960.1_RNA								0	931	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.587	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		9	71	0	0	0	0.004482	0	9	71				
CST9L	128821	broad.mit.edu	37	20	23545640	23545640	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:23545640G>A	ENST00000376979.3	-	3	687	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	130						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGTCATCCAGGGCCTGGTGCT	0.552																																						ENST00000376979.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(388-390)cCc>cTc		cystatin 9-like							157.0	137.0	144.0					20																	23545640		2203	4300	6503	SO:0001583	missense	128821					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23545640G>A		CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"""cystatin 9 (mouse)-like"""			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.389C>T	20.37:g.23545640G>A	ENSP00000366178:p.Pro130Leu						p.P130L	NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN			3	687	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		130					B2R5A1	Missense_Mutation	SNP	ENST00000376979.3	37	c.389C>T	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034087	0.35893	.	.	ENSG00000101435	ENST00000376979	T	0.30182	1.54	1.74	1.74	0.24563	Proteinase inhibitor I25, cystatin (2);	0.212825	0.24067	N	0.041855	T	0.53594	0.1806	M	0.87381	2.88	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.34403	-0.9830	10	0.87932	D	0	.	6.9494	0.24536	0.0:0.0:1.0:0.0	.	130	Q9H4G1	CST9L_HUMAN	L	130	ENSP00000366178:P130L	ENSP00000366178:P130L	P	-	2	0	CST9L	23493640	0.525000	0.26290	0.058000	0.19502	0.007000	0.05969	2.709000	0.47160	1.262000	0.44165	0.305000	0.20034	CCC		0.552	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	NM_080610		94	134	0	0	0	0.014410	0	94	134				
ABCC11	85320	broad.mit.edu	37	16	48218463	48218463	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:48218463C>A	ENST00000394747.1	-	22	3495	c.3146G>T	c.(3145-3147)aGg>aTg	p.R1049M	ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049M|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049M|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049M	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1049	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GATCTCCAGCCTCAATGCCAT	0.483																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3145-3147)aGg>aTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							197.0	164.0	175.0					16																	48218463		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48218463C>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3146G>T	16.37:g.48218463C>A	ENSP00000378230:p.Arg1049Met					ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049M|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049M|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049M	p.R1049M	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			22	3495	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1049			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3146G>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.206115	0.39003	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	5.57	3.62	0.41486	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.293222	0.33938	N	0.004410	D	0.93785	0.8013	M	0.86651	2.83	0.27225	N	0.959569	D;D	0.71674	0.998;0.994	P;D	0.70487	0.891;0.969	D	0.87595	0.2493	10	0.66056	D	0.02	-14.9349	8.8685	0.35300	0.0:0.8275:0.0:0.1725	.	1049;1049	Q96J66-2;Q96J66	.;ABCCB_HUMAN	M	1049	ENSP00000311326:R1049M;ENSP00000349017:R1049M;ENSP00000378231:R1049M;ENSP00000378230:R1049M	ENSP00000311326:R1049M	R	-	2	0	ABCC11	46775964	0.185000	0.23213	0.204000	0.23530	0.229000	0.25112	1.868000	0.39509	0.720000	0.32209	0.563000	0.77884	AGG		0.483	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		57	128	1	0	2.22609e-26	0.014410	3.42475e-26	57	128				
MIR17HG	407975	broad.mit.edu	37	13	92003640	92003640	+	RNA	SNP	G	G	C			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr13:92003640G>C	ENST00000362310.2	+	0	184				MIR17HG_ENST00000385233.2_RNA|MIR17HG_ENST00000385012.1_RNA|MIR17HG_ENST00000384878.1_RNA|MIR17HG_ENST00000362279.1_RNA|MIR17HG_ENST00000384829.1_RNA	NR_029488.1		Q75NE6	MIRH1_HUMAN	miR-17-92 cluster host gene (non-protein coding)							integral component of membrane (GO:0016021)											GGCCTGTTGAGTTTGGTGGGG	0.378																																						ENST00000385233.2																			0																				167.0	134.0	144.0					13																	92003640		1568	3582	5150			407975							g.chr13:92003640G>C	AB176707		13q31.3	2014-07-18	2011-02-14	2009-07-24	ENSG00000215417	ENSG00000215417		"""-"""	23564	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 48"", ""long intergenic non-protein coding RNA 48"""	609415	"""chromosome 13 open reading frame 25"", ""microRNA host gene 1 (non-protein coding)"", ""MIR17 host gene (non-protein coding)"""	C13orf25, MIRHG1		15126345, 15944707, 16266980, 17210683, 23551855	Standard	NR_027349		Approved	FLJ14178, MIRH1, MIHG1, NCRNA00048, miR-17-92, LINC00048	uc010tie.1	Q75NE6	OTTHUMG00000017195		13.37:g.92003640G>C								NR_029508.1						0	73	+								A4QMU7|Q75NE7	RNA	SNP	ENST00000362310.2	37																																																																																						0.378	MIR17HG-202	KNOWN	basic	miRNA	processed_transcript		NR_027349		96	20	0	0	0	0.014410	0	96	20				
TP53	7157	broad.mit.edu	37	17	7579699	7579699	+	Splice_Site	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:7579699C>A	ENST00000269305.4	-	3	286		c.e3+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTTGTCCTTACCAGAACGTTG	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)	liver(8)|bone(4)|central_nervous_system(2)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e3+1	Other conserved DNA damage response genes	tumor protein p53							41.0	42.0	42.0					17																	7579699		2202	4298	6500	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579699C>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.96+1G>T	17.37:g.7579699C>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site		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)	3	229	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297523	0.81025	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6079	0.51043	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520424	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.928000	0.40104	2.466000	0.83321	0.561000	0.74099	.		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	48	8	1	0	1.57945e-13	0.011902	2.3114e-13	48	8				
C6orf222	389384	broad.mit.edu	37	6	36298372	36298372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:36298372C>T	ENST00000437635.2	-	2	273	c.96G>A	c.(94-96)tgG>tgA	p.W32*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	32										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AATGGCAGTCCCACGACTCCG	0.647																																						ENST00000437635.2																			0				breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						c.(94-96)tgG>tgA		chromosome 6 open reading frame 222							51.0	58.0	56.0					6																	36298372		2202	4300	6502	SO:0001587	stop_gained	389384							g.chr6:36298372C>T		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.96G>A	6.37:g.36298372C>T	ENSP00000418983:p.Trp32*						p.W32*	NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN			2	273	-			32					B2RTY8	Nonsense_Mutation	SNP	ENST00000437635.2	37	c.96G>A	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184556	0.78677	.	.	ENSG00000189325	ENST00000437635	.	.	.	4.76	2.9	0.33743	.	1.944880	0.02601	N	0.101005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-22.7382	6.4133	0.21702	0.0:0.7119:0.1857:0.1024	.	.	.	.	X	32	.	ENSP00000418983:W32X	W	-	3	0	C6orf222	36406350	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	0.328000	0.19681	0.491000	0.27793	0.471000	0.43371	TGG		0.647	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		101	17	0	0	0	0.014410	0	101	17				
LTBP4	8425	broad.mit.edu	37	19	41133075	41133075	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:41133075G>A	ENST00000308370.7	+	32	4379	c.4379G>A	c.(4378-4380)cGc>cAc	p.R1460H	LTBP4_ENST00000204005.9_Missense_Mutation_p.R1423H|LTBP4_ENST00000545697.1_Missense_Mutation_p.R828H|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1393H	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1461	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCTTCGCCCGCCGGGAGGCT	0.657																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(4378-4380)cGc>cAc		latent transforming growth factor beta binding protein 4							14.0	21.0	19.0					19																	41133075		1922	4104	6026	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41133075G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4379G>A	19.37:g.41133075G>A	ENSP00000311905:p.Arg1460His					LTBP4_ENST00000204005.9_Missense_Mutation_p.R1423H|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1393H|LTBP4_ENST00000545697.1_Missense_Mutation_p.R828H|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000243562.9_3'UTR	p.R1460H	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		32	4379	+			1461			Pro-rich.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.4379G>A		.	.	.	.	.	.	.	.	.	.	G	19.10	3.761988	0.69763	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	T;D;T;T	0.83506	-1.38;-1.73;-1.39;-1.37	4.71	4.71	0.59529	.	0.221145	0.23317	N	0.049498	D	0.85008	0.5599	.	.	.	0.33197	D	0.551592	D;D;P;D;D;D	0.71674	0.986;0.986;0.955;0.975;0.975;0.998	P;P;B;P;P;P	0.54270	0.674;0.674;0.379;0.474;0.474;0.747	D	0.87226	0.2257	9	0.33940	T	0.23	.	13.034	0.58859	0.0:0.0:1.0:0.0	.	221;473;681;1393;1461;1423	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	H	1423;828;1460;1393;221	ENSP00000204005:R1423H;ENSP00000441054:R828H;ENSP00000311905:R1460H;ENSP00000380031:R1393H	ENSP00000204005:R1423H	R	+	2	0	LTBP4	45824915	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.191000	0.42640	2.441000	0.82636	0.563000	0.77884	CGC		0.657	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		19	9	0	0	0	0.021523	0	19	9				
SLITRK1	114798	broad.mit.edu	37	13	84454064	84454064	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr13:84454064G>A	ENST00000377084.2	-	1	2464	c.1579C>T	c.(1579-1581)Cac>Tac	p.H527Y		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	527					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGGTTTCCGTGGAGGTCTATC	0.547																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1579-1581)Cac>Tac		SLIT and NTRK-like family, member 1							54.0	54.0	54.0					13																	84454064		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454064G>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1579C>T	13.37:g.84454064G>A	ENSP00000366288:p.His527Tyr						p.H527Y	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2464	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	527					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1579C>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383803	0.61845	.	.	ENSG00000178235	ENST00000377084	T	0.51817	0.69	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	N	0.25201	0.72	0.80722	D	1	B	0.22909	0.077	B	0.20955	0.032	T	0.12319	-1.0552	10	0.39692	T	0.17	-14.1358	17.693	0.88273	0.0:0.0:1.0:0.0	.	527	Q96PX8	SLIK1_HUMAN	Y	527	ENSP00000366288:H527Y	ENSP00000366288:H527Y	H	-	1	0	SLITRK1	83352065	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.872000	0.87187	2.603000	0.88011	0.655000	0.94253	CAC		0.547	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		56	11	0	0	0	0.014410	0	56	11				
TAT	6898	broad.mit.edu	37	16	71610149	71610149	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:71610149C>T	ENST00000355962.4	-	2	303	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	57					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CACAATGGCTCGGATGGGGTT	0.502																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	ENST00000355962.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29						c.(169-171)cGa>cAa		tyrosine aminotransferase	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						143.0	115.0	124.0					16																	71610149		2198	4300	6498	SO:0001583	missense	6898				2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71610149C>T		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.170G>A	16.37:g.71610149C>T	ENSP00000348234:p.Arg57Gln					RP11-432I5.1_ENST00000561529.1_RNA	p.R57Q	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN		Kidney(780;0.0157)	2	303	-		Ovarian(137;0.125)	57					B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	c.170G>A	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	36	5.828712	0.96996	.	.	ENSG00000198650	ENST00000355962	D	0.89196	-2.48	6.01	6.01	0.97437	Tyrosine aminotransferase (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	M	0.90019	3.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.995;0.999	D	0.95818	0.8847	10	0.87932	D	0	-21.0816	20.5141	0.99211	0.0:1.0:0.0:0.0	.	57;57;57	Q8WW92;A1L4G7;P17735	.;.;ATTY_HUMAN	Q	57	ENSP00000348234:R57Q	ENSP00000348234:R57Q	R	-	2	0	TAT	70167650	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.487000	0.81328	2.850000	0.98022	0.655000	0.94253	CGA		0.502	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			37	44	0	0	0	0.014410	0	37	44				
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:142168890C>T	ENST00000454561.2	-	0	155									T cell receptor beta variable 5-4																		GGGCTTGGTCCTCCTGGGGAA	0.592																																						ENST00000454561.2																			0																				25.0	26.0	26.0					7																	142168890		1957	4131	6088			28611							g.chr7:142168890C>T	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168890C>T														0	155	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.592	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		6	53	0	0	0	0.006214	0	6	53				
POM121L9P	29774	broad.mit.edu	37	22	24659764	24659764	+	RNA	SNP	C	C	G			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:24659764C>G	ENST00000414583.2	+	0	3289					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		AGTGTCCTAACAGCCCTGCTT	0.627																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659764C>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.24659764C>G								NR_003714.1						0	3289	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.627	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	33	0	0	0	0.014758	0	4	33				
ANXA3	306	broad.mit.edu	37	4	79522703	79522703	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:79522703G>T	ENST00000264908.6	+	11	1149	c.770G>T	c.(769-771)aGa>aTa	p.R257I	ANXA3_ENST00000503570.2_Missense_Mutation_p.R218I|ANXA3_ENST00000512884.1_Missense_Mutation_p.R218I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	257					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTAGCCGAAAGACTGCATCGA	0.388																																					GBM(2;126 157 27790 28920 42492)	ENST00000264908.6																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(769-771)aGa>aTa		annexin A3							131.0	122.0	125.0					4																	79522703		2203	4300	6503	SO:0001583	missense	306				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	g.chr4:79522703G>T	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.770G>T	4.37:g.79522703G>T	ENSP00000264908:p.Arg257Ile					ANXA3_ENST00000503570.2_Missense_Mutation_p.R218I|ANXA3_ENST00000512884.1_Missense_Mutation_p.R218I	p.R257I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN			11	1149	+			257					B2R9W6|Q6LET2	Missense_Mutation	SNP	ENST00000264908.6	37	c.770G>T	CCDS3584.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120043	0.56613	.	.	ENSG00000138772	ENST00000264908;ENST00000512884;ENST00000503570	T;T;T	0.03065	4.06;4.06;4.06	5.21	4.37	0.52481	.	0.104658	0.64402	D	0.000014	T	0.11067	0.0270	M	0.74647	2.275	0.58432	D	0.999999	P	0.49253	0.921	P	0.50708	0.648	T	0.00893	-1.1524	10	0.87932	D	0	.	12.562	0.56286	0.0811:0.0:0.9189:0.0	.	257	P12429	ANXA3_HUMAN	I	257;218;218	ENSP00000264908:R257I;ENSP00000423068:R218I;ENSP00000421015:R218I	ENSP00000264908:R257I	R	+	2	0	ANXA3	79741727	0.998000	0.40836	0.945000	0.38365	0.482000	0.33219	1.372000	0.34261	1.420000	0.47138	0.585000	0.79938	AGA		0.388	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		80	108	1	0	4.4782e-45	0.014410	7.07084e-45	80	108				
RSPH3	83861	broad.mit.edu	37	6	159420497	159420497	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:159420497C>T	ENST00000252655.1	-	1	701	c.512G>A	c.(511-513)cGc>cAc	p.R171H	RSPH3_ENST00000449822.1_Missense_Mutation_p.R29H|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RSPH3_ENST00000367069.2_Missense_Mutation_p.R29H|RP1-111C20.4_ENST00000607796.1_RNA|RSPH3_ENST00000297262.3_Missense_Mutation_p.R171H	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	171										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GTAACGGCTGCGCTGGCAGGG	0.687																																						ENST00000367069.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23						c.(85-87)cGc>cAc		radial spoke 3 homolog (Chlamydomonas)							33.0	37.0	36.0					6																	159420497		1958	3987	5945	SO:0001583	missense	83861							g.chr6:159420497C>T	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.512G>A	6.37:g.159420497C>T	ENSP00000252655:p.Arg171His					RSPH3_ENST00000297262.3_Missense_Mutation_p.R171H|RSPH3_ENST00000449822.1_Missense_Mutation_p.R29H|RSPH3_ENST00000252655.1_Missense_Mutation_p.R171H|RP1-111C20.4_ENST00000607391.1_RNA	p.R29H			Q86UC2	RSPH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	1	722	-		Breast(66;0.00519)|Ovarian(120;0.123)	171					Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	c.86G>A	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250218	0.95305	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.22134	2.07;1.97;2.14;2.06	5.25	5.25	0.73442	.	0.120206	0.64402	D	0.000018	T	0.24122	0.0584	L	0.34521	1.04	0.28250	N	0.925305	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.973	T	0.04017	-1.0984	10	0.87932	D	0	-25.034	14.3307	0.66553	0.0:1.0:0.0:0.0	.	171;171	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	H	29;29;171;171	ENSP00000356036:R29H;ENSP00000393195:R29H;ENSP00000252655:R171H;ENSP00000297262:R171H	ENSP00000252655:R171H	R	-	2	0	RSPH3	159340485	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.733000	0.55029	2.448000	0.82819	0.563000	0.77884	CGC		0.687	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		4	36	0	0	0	0.009096	0	4	36				
ZNF79	7633	broad.mit.edu	37	9	130207140	130207140	+	Silent	SNP	A	A	G			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:130207140A>G	ENST00000342483.5	+	5	1567	c.1161A>G	c.(1159-1161)aaA>aaG	p.K387K	ZNF79_ENST00000543471.1_Silent_p.K363K|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	387					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)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTGGGGAGAAACCCTACAAGT	0.532																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(1159-1161)aaA>aaG		zinc finger protein 79							75.0	72.0	73.0					9																	130207140		2203	4300	6503	SO:0001819	synonymous_variant	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130207140A>G	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1161A>G	9.37:g.130207140A>G						ZNF79_ENST00000543471.1_Silent_p.K363K	p.K387K	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1567	+			387					Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	c.1161A>G	CCDS6871.1																																																																																				0.532	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		7	148	0	0	0	0.004482	0	7	148				
GABRG3	2567	broad.mit.edu	37	15	27777970	27777970	+	Silent	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:27777970C>T	ENST00000333743.6	+	10	1601	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	449					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGGTCTTTTTCCCCACGTCCT	0.473																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42						c.(1345-1347)ttC>ttT		gamma-aminobutyric acid (GABA) A receptor, gamma 3							72.0	73.0	72.0					15																	27777970		1960	4147	6107	SO:0001819	synonymous_variant	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27777970C>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1347C>T	15.37:g.27777970C>T						RP11-100M12.3_ENST00000556642.1_RNA	p.F449F	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	10	1601	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	449					G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	c.1347C>T	CCDS45195.1																																																																																				0.473	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			53	35	0	0	0	0.014410	0	53	35				
NCOR1P1	149934	broad.mit.edu	37	20	26084094	26084094	+	RNA	SNP	T	T	C			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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			149934							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	81	0	0	0	0.006214	0	6	81				
BCL2L12	83596	broad.mit.edu	37	19	50169227	50169227	+	Silent	SNP	G	G	A	rs201895036	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:50169227G>A	ENST00000246785.3	+	1	405	c.147G>A	c.(145-147)gtG>gtA	p.V49V	IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000377139.3_5'Flank|IRF3_ENST00000597198.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000596765.1_5'Flank|BCL2L12_ENST00000441864.2_Silent_p.V49V|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000600022.1_5'Flank|BCL2L12_ENST00000246784.3_Silent_p.V49V	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	49					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CCGGCCCAGTGCGCAGGCGCG	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		14839	0.002		0.0	False		,,,				2504	0.0					ENST00000246785.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8						c.(145-147)gtG>gtA		BCL2-like 12 (proline rich)							21.0	22.0	21.0					19																	50169227		2202	4300	6502	SO:0001819	synonymous_variant	83596				apoptosis			g.chr19:50169227G>A	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.147G>A	19.37:g.50169227G>A						BCL2L12_ENST00000441864.2_Silent_p.V49V|BCL2L12_ENST00000246784.3_Silent_p.V49V	p.V49V	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)	1	405	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	49					Q3SY11|Q3SY13|Q96I96|Q9HB08	Silent	SNP	ENST00000246785.3	37	c.147G>A	CCDS12776.1																																																																																				0.617	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	NM_052842		26	50	0	0	0	0.021523	0	26	50				
ZKSCAN4	387032	broad.mit.edu	37	6	28219931	28219931	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:28219931G>A	ENST00000377294.2	-	0	71				ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTTATAGTCCGTGCCTTTGCA	0.537																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18								zinc finger with KRAB and SCAN domains 4																																						387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28219931G>A	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511		6.37:g.28219931G>A						ZKSCAN4_ENST00000423974.2_Intron		NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			0	71	-								B2RE32|Q5U7L4	Translation_Start_Site	SNP	ENST00000377294.2	37		CCDS4647.1																																																																																				0.537	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		6	0	0	0	0	0.021553	0	6	0				
ZMYM6	9204	broad.mit.edu	37	1	35476132	35476132	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:35476132C>A	ENST00000357182.4	-	10	1635	c.1408G>T	c.(1408-1410)Gca>Tca	p.A470S	ZMYM6_ENST00000487874.1_Missense_Mutation_p.A470S|ZMYM6_ENST00000373340.2_Missense_Mutation_p.A470S|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	470					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TCACACATTGCCACAACTTTA	0.378																																						ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(1408-1410)Gca>Tca		zinc finger, MYM-type 6							145.0	138.0	141.0					1																	35476132		2203	4300	6503	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35476132C>A	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1408G>T	1.37:g.35476132C>A	ENSP00000349708:p.Ala470Ser					ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Missense_Mutation_p.A470S|ZMYM6_ENST00000373340.2_Missense_Mutation_p.A470S	p.A470S	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN			10	1635	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	470					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.1408G>T	CCDS387.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186303	0.78789	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.22743	1.94;3.11	5.24	5.24	0.73138	Zinc finger, MYM-type (1);	0.297370	0.36338	N	0.002658	T	0.38295	0.1035	L	0.43923	1.385	0.45046	D	0.998061	D;D;D	0.71674	0.994;0.998;0.997	D;D;D	0.75484	0.926;0.986;0.939	T	0.01108	-1.1449	10	0.21014	T	0.42	-4.7555	18.3537	0.90348	0.0:1.0:0.0:0.0	.	373;470;470	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	S	470	ENSP00000362437:A470S;ENSP00000349708:A470S	ENSP00000349708:A470S	A	-	1	0	ZMYM6	35248719	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	2.729000	0.47327	2.890000	0.99128	0.650000	0.86243	GCA		0.378	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		6	150	1	0	3.59834e-05	0.021553	5.14048e-05	6	150				
TRPM3	80036	broad.mit.edu	37	9	73206031	73206031	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:73206031C>G	ENST00000377111.2	-	21	3346	c.3103G>C	c.(3103-3105)Gag>Cag	p.E1035Q	TRPM3_ENST00000360823.2_Missense_Mutation_p.E897Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.E907Q|TRPM3_ENST00000377110.3_Missense_Mutation_p.E1035Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.E894Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.E894Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.E897Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E884Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1039Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E907Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.E882Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1062Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1060					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CATGATGGCTCCTCATTGGGA	0.458																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(3103-3105)Gag>Cag		transient receptor potential cation channel, subfamily M, member 3							151.0	134.0	140.0					9																	73206031		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73206031C>G	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3103G>C	9.37:g.73206031C>G	ENSP00000366315:p.Glu1035Gln					TRPM3_ENST00000360823.2_Missense_Mutation_p.E897Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1062Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.E907Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1039Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.E894Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.E897Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E907Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.E894Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E884Q|TRPM3_ENST00000377111.2_Missense_Mutation_p.E1035Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.E882Q	p.E1035Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			21	3346	-			1060					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3103G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.39|15.39	2.820181|2.820181	0.50633|0.50633	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	D;D;D;D;D;D;D;D;D;D;D|.	0.98474|.	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.052428|.	0.85682|.	D|.	0.000000|.	T|T	0.59797|0.59797	0.2220|0.2220	L|L	0.31804|0.31804	0.96|0.96	0.49389|0.49389	D|D	0.999786|0.999786	B;B;D;B;B;D;B;B|.	0.76494|.	0.185;0.058;0.987;0.221;0.11;0.999;0.317;0.182|.	B;B;P;B;B;D;B;B|.	0.68192|.	0.281;0.037;0.828;0.309;0.156;0.956;0.281;0.081|.	T|T	0.52403|0.52403	-0.8580|-0.8580	10|5	0.34782|.	T|.	0.22|.	-23.0749|-23.0749	19.9941|19.9941	0.97377|0.97377	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1035;1035;1025;1039;897;894;1007;882|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	Q|A	1035;1035;907;897;894;1039;894;882;907;897;1062|883	ENSP00000366315:E1035Q;ENSP00000366314:E1035Q;ENSP00000366310:E907Q;ENSP00000354066:E897Q;ENSP00000366309:E894Q;ENSP00000350140:E1039Q;ENSP00000386127:E894Q;ENSP00000379581:E882Q;ENSP00000379587:E907Q;ENSP00000350791:E897Q;ENSP00000389542:E1062Q|.	ENSP00000350140:E1039Q|.	E|G	-|-	1|2	0|0	TRPM3|TRPM3	72395851|72395851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.735000|2.735000	0.93741|0.93741	0.637000|0.637000	0.83480|0.83480	GAG|GGA		0.458	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		17	254	0	0	0	0.004990	0	17	254				
ELP4	26610	broad.mit.edu	37	11	31616324	31616324	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:31616324C>T	ENST00000350638.5	+	4	424	c.389C>T	c.(388-390)cCa>cTa	p.P130L	ELP4_ENST00000379163.5_Missense_Mutation_p.P130L|ELP4_ENST00000395934.2_Missense_Mutation_p.P130L	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	130					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TAGGAACTTCCAGCACCATTA	0.284																																						ENST00000395934.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20						c.(388-390)cCa>cTa		elongator acetyltransferase complex subunit 4							66.0	63.0	64.0					11																	31616324		1808	4066	5874	SO:0001583	missense	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31616324C>T	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.389C>T	11.37:g.31616324C>T	ENSP00000298937:p.Pro130Leu					ELP4_ENST00000350638.5_Missense_Mutation_p.P130L|ELP4_ENST00000379163.5_Missense_Mutation_p.P130L	p.P130L			Q96EB1	ELP4_HUMAN			4	396	+	Lung SC(675;0.225)		130					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.389C>T	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021798	0.75275	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	D;D;D	0.83755	-1.76;-1.76;-1.76	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.91372	0.7278	M	0.86805	2.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92248	0.5806	10	0.72032	D	0.01	-0.2929	12.3103	0.54925	0.0:0.9219:0.0:0.0781	.	130;130;130	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	L	130	ENSP00000298937:P130L;ENSP00000368461:P130L;ENSP00000379267:P130L	ENSP00000298937:P130L	P	+	2	0	ELP4	31572900	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.805000	0.62561	2.539000	0.85634	0.460000	0.39030	CCA		0.284	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		42	86	0	0	0	0.014410	0	42	86				
GEMIN8	54960	broad.mit.edu	37	X	14038421	14038421	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:14038421C>A	ENST00000380523.4	-	4	566	c.248G>T	c.(247-249)tGg>tTg	p.W83L	GEMIN8_ENST00000398355.3_Missense_Mutation_p.W83L|GEMIN8_ENST00000460203.1_5'UTR	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	83					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						GTAGTCCTGCCAGGCCACATG	0.488																																						ENST00000380523.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						c.(247-249)tGg>tTg		gem (nuclear organelle) associated protein 8							141.0	126.0	131.0					X																	14038421		2203	4300	6503	SO:0001583	missense	54960				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	g.chrX:14038421C>A	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"""family with sequence similarity 51, member A1"""	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.248G>T	X.37:g.14038421C>A	ENSP00000369895:p.Trp83Leu					GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.W83L	p.W83L	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN			4	566	-			83					C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	c.248G>T	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	c	2.299	-0.360714	0.05103	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T	0.39787	1.06;1.06	5.28	1.45	0.22620	.	1.533280	0.03118	N	0.163405	T	0.35856	0.0946	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17776	-1.0358	10	0.13853	T	0.58	.	8.6807	0.34207	0.0:0.1669:0.5092:0.324	.	83	Q9NWZ8	GEMI8_HUMAN	L	83	ENSP00000369895:W83L;ENSP00000381398:W83L	ENSP00000369894:W83L	W	-	2	0	GEMIN8	13948342	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.653000	0.24902	-0.127000	0.11661	-0.199000	0.12753	TGG		0.488	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856		226	19	1	0	2.9979e-95	0.014410	4.86147e-95	226	19				
XPC	7508	broad.mit.edu	37	3	14220061	14220061	+	Missense_Mutation	SNP	C	C	G	rs369735922		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:14220061C>G	ENST00000285021.7	-	1	222	c.8G>C	c.(7-9)cGg>cCg	p.R3P	LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Missense_Mutation_p.R3P	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	3					DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGCGCGTTTCCGAGCCATGTT	0.701			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(7-9)cGg>cCg	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							27.0	33.0	31.0					3																	14220061		1942	4120	6062	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14220061C>G		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.8G>C	3.37:g.14220061C>G	ENSP00000285021:p.Arg3Pro					XPC_ENST00000449060.2_Missense_Mutation_p.R3P|LSM3_ENST00000306024.3_5'UTR	p.R3P	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			1	222	-			3					B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.8G>C	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.915376	0.73098	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000511155	T;T;T	0.62105	0.05;0.05;0.05	5.19	2.27	0.28462	.	0.406531	0.22152	N	0.063914	T	0.45196	0.1330	N	0.20986	0.625	0.35020	D	0.757773	B;B	0.15930	0.015;0.015	B;B	0.14023	0.01;0.01	T	0.42481	-0.9449	10	0.33940	T	0.23	-2.486	10.6788	0.45802	0.1383:0.5947:0.2671:0.0	.	3;3	E9PH69;Q01831	.;XPC_HUMAN	P	3	ENSP00000285021:R3P;ENSP00000404002:R3P;ENSP00000423867:R3P	ENSP00000285021:R3P	R	-	2	0	XPC	14195065	0.004000	0.15560	0.010000	0.14722	0.581000	0.36288	0.670000	0.25157	0.142000	0.18901	0.591000	0.81541	CGG		0.701	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		5	23	0	0	0	0.010729	0	5	23				
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:142168862A>G	ENST00000454561.2	-	0	183									T cell receptor beta variable 5-4																		TGGGCCAGGCAGCACTGCACC	0.597																																						ENST00000454561.2																			0																				28.0	28.0	28.0					7																	142168862		1933	4131	6064			28611							g.chr7:142168862A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168862A>G														0	183	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.597	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		5	64	0	0	0	0.003080	0	5	64				
GRM6	2916	broad.mit.edu	37	5	178410177	178410177	+	Missense_Mutation	SNP	C	C	T	rs151103990	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:178410177C>T	ENST00000517717.1	-	10	2208	c.2170G>A	c.(2170-2172)Gtg>Atg	p.V724M	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.V724M			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	724					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TAGTCAATCACGCTGTGTGGG	0.607																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(2170-2172)Gtg>Atg		glutamate receptor, metabotropic 6		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	58.0	49.0	52.0		2170	2.6	0.7	5	dbSNP_134	52	9,8591	7.1+/-27.0	0,9,4291	yes	missense	GRM6	NM_000843.3	21	0,10,6493	TT,TC,CC		0.1047,0.0227,0.0769	benign	724/878	178410177	10,12996	2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178410177C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2170G>A	5.37:g.178410177C>T	ENSP00000430767:p.Val724Met					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.V724M	p.V724M	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	9	2348	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	724						Missense_Mutation	SNP	ENST00000517717.1	37	c.2170G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133924	0.37630	2.27E-4	0.001047	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.89123	-2.47;-2.47	5.33	2.58	0.30949	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.86887	0.6041	L	0.38175	1.15	0.27099	N	0.962676	B;P	0.51351	0.434;0.944	B;P	0.55824	0.165;0.785	T	0.75969	-0.3130	9	0.33940	T	0.23	.	4.3315	0.11066	0.1577:0.5874:0.0:0.2549	.	724;18	O15303;Q5HYM4	GRM6_HUMAN;.	M	724	ENSP00000231188:V724M;ENSP00000430767:V724M	ENSP00000231188:V724M	V	-	1	0	GRM6	178342783	0.406000	0.25344	0.653000	0.29593	0.679000	0.39708	0.879000	0.28146	0.339000	0.23719	0.484000	0.47621	GTG		0.607	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			39	60	0	0	0	0.013114	0	39	60				
ABCC11	85320	broad.mit.edu	37	16	48218462	48218462	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:48218462C>A	ENST00000394747.1	-	22	3496	c.3147G>T	c.(3145-3147)agG>agT	p.R1049S	ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049S|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049S|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1049	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TGATCTCCAGCCTCAATGCCA	0.483																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3145-3147)agG>agT		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							197.0	164.0	175.0					16																	48218462		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48218462C>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3147G>T	16.37:g.48218462C>A	ENSP00000378230:p.Arg1049Ser					ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049S|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049S|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049S	p.R1049S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			22	3496	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1049			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3147G>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465225	0.43839	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.57	-2.79	0.05841	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.293222	0.33938	N	0.004410	D	0.92789	0.7707	M	0.86651	2.83	0.23120	N	0.998267	B;D	0.57257	0.383;0.979	B;D	0.64506	0.151;0.926	D	0.87538	0.2457	10	0.66056	D	0.02	-14.9349	10.8349	0.46681	0.0:0.3676:0.0:0.6324	.	1049;1049	Q96J66-2;Q96J66	.;ABCCB_HUMAN	S	1049	ENSP00000311326:R1049S;ENSP00000349017:R1049S;ENSP00000378231:R1049S;ENSP00000378230:R1049S	ENSP00000311326:R1049S	R	-	3	2	ABCC11	46775963	0.005000	0.15991	0.178000	0.23040	0.224000	0.24922	-0.701000	0.05075	-0.360000	0.08138	0.563000	0.77884	AGG		0.483	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		56	132	1	0	2.69953e-25	0.014410	4.0493e-25	56	132				
ZNF79	7633	broad.mit.edu	37	9	130207131	130207131	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:130207131T>C	ENST00000342483.5	+	5	1558	c.1152T>C	c.(1150-1152)acT>acC	p.T384T	ZNF79_ENST00000543471.1_Silent_p.T360T|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	384					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)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GGACTCACACTGGGGAGAAAC	0.547																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(1150-1152)acT>acC		zinc finger protein 79							74.0	71.0	72.0					9																	130207131		2203	4300	6503	SO:0001819	synonymous_variant	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130207131T>C	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1152T>C	9.37:g.130207131T>C						ZNF79_ENST00000543471.1_Silent_p.T360T	p.T384T	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1558	+			384					Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	c.1152T>C	CCDS6871.1																																																																																				0.547	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		7	134	0	0	0	0.004482	0	7	134				
PRKACB	5567	broad.mit.edu	37	1	84700917	84700917	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:84700917G>C	ENST00000370689.2	+	10	1249	c.985G>C	c.(985-987)Gat>Cat	p.D329H	PRKACB_ENST00000370682.3_Missense_Mutation_p.D333H|PRKACB_ENST00000394838.2_Missense_Mutation_p.D336H|PRKACB_ENST00000394839.2_Missense_Mutation_p.D299H|PRKACB_ENST00000370685.3_Missense_Mutation_p.D376H	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	329	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		CAGCAACTTTGATGACTATGA	0.343																																						ENST00000370689.2																			0				breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16						c.(985-987)Gat>Cat		protein kinase, cAMP-dependent, catalytic, beta							77.0	80.0	79.0					1																	84700917		2203	4300	6503	SO:0001583	missense	5567				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	g.chr1:84700917G>C	BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.985G>C	1.37:g.84700917G>C	ENSP00000359723:p.Asp329His					PRKACB_ENST00000370685.3_Missense_Mutation_p.D376H|PRKACB_ENST00000394839.2_Missense_Mutation_p.D299H|PRKACB_ENST00000394838.2_Missense_Mutation_p.D336H|PRKACB_ENST00000370682.3_Missense_Mutation_p.D333H	p.D329H	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN		all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)	10	1249	+			329			AGC-kinase C-terminal.		B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	c.985G>C	CCDS691.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040484	0.93630	.	.	ENSG00000142875	ENST00000370689;ENST00000370685;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000394839;ENST00000370681	T;T;T;T;T	0.08807	3.05;3.05;3.05;3.05;3.05	6.17	6.17	0.99709	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	H	0.99752	4.75	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.992;0.995;0.998;0.997;0.987;1.0;0.999	D;D;P;D;D;D;D;D	0.81914	0.995;0.974;0.904;0.97;0.956;0.956;0.989;0.995	T	0.72669	-0.4223	10	0.87932	D	0	-24.3941	20.8794	0.99867	0.0:0.0:1.0:0.0	.	329;317;336;299;335;333;376;329	B2RB89;P22694-3;B4DKB0;B1APG4;P22694-6;P22694-7;P22694-2;P22694	.;.;.;.;.;.;.;KAPCB_HUMAN	H	329;376;336;333;335;299;291	ENSP00000359723:D329H;ENSP00000359719:D376H;ENSP00000378314:D336H;ENSP00000359716:D333H;ENSP00000378315:D299H	ENSP00000359713:D335H	D	+	1	0	PRKACB	84473505	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAT		0.343	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		5	103	0	0	0	0.021553	0	5	103				
HERC2	8924	broad.mit.edu	37	15	28491151	28491151	+	Silent	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:28491151G>A	ENST00000261609.7	-	23	3561	c.3453C>T	c.(3451-3453)ctC>ctT	p.L1151L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTCTTGCATGAGACCAGCAT	0.423																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(3451-3453)ctC>ctT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							102.0	89.0	94.0					15																	28491151		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28491151G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3453C>T	15.37:g.28491151G>A							p.L1151L	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	23	3561	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1151						Silent	SNP	ENST00000261609.7	37	c.3453C>T	CCDS10021.1																																																																																				0.423	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		61	62	0	0	0	0.014410	0	61	62				
KIF5A	3798	broad.mit.edu	37	12	57972099	57972099	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:57972099G>A	ENST00000455537.2	+	23	2786	c.2512G>A	c.(2512-2514)Gaa>Aaa	p.E838K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E749K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	838					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GAACAACCTGGAACAGCTTAC	0.473																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2512-2514)Gaa>Aaa		kinesin family member 5A							68.0	67.0	67.0					12																	57972099		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57972099G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2512G>A	12.37:g.57972099G>A	ENSP00000408979:p.Glu838Lys					KIF5A_ENST00000286452.5_Missense_Mutation_p.E749K	p.E838K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			23	2786	+			838					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.2512G>A	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631553	0.87660	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.86432	-2.12;-2.12	5.15	4.26	0.50523	.	0.246896	0.39544	N	0.001323	D	0.90724	0.7089	M	0.82323	2.585	0.41650	D	0.989126	P;P	0.41524	0.753;0.753	P;P	0.48400	0.576;0.489	D	0.91661	0.5342	10	0.52906	T	0.07	.	14.4704	0.67512	0.0:0.0:0.8515:0.1485	.	749;838	B7Z2M7;Q12840	.;KIF5A_HUMAN	K	838;749	ENSP00000408979:E838K;ENSP00000286452:E749K	ENSP00000286452:E749K	E	+	1	0	KIF5A	56258366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.802000	0.85969	1.551000	0.49450	0.558000	0.71614	GAA		0.473	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		86	111	0	0	0	0.014410	0	86	111				
ANAPC4	29945	broad.mit.edu	37	4	25384881	25384881	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:25384881A>T	ENST00000315368.3	+	4	377		c.e4-1		ANAPC4_ENST00000510092.1_Splice_Site	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTCTTGTTTTAGTTTTGGCCT	0.343																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.e4-1		anaphase promoting complex subunit 4							127.0	117.0	121.0					4																	25384881		2203	4299	6502	SO:0001630	splice_region_variant	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25384881A>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.236-1A>T	4.37:g.25384881A>T						ANAPC4_ENST00000510092.1_Splice_Site		NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			4	377	+		Breast(46;0.0503)						A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Splice_Site	SNP	ENST00000315368.3	37		CCDS3434.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.237719	0.79800	.	.	ENSG00000053900	ENST00000315368;ENST00000510092;ENST00000505991	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9279	0.79635	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANAPC4	24993979	1.000000	0.71417	0.984000	0.44739	0.949000	0.60115	8.799000	0.91895	2.165000	0.68154	0.482000	0.46254	.		0.343	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367	Intron	6	105	0	0	0	1	0	6	105				
SERPINB4	6318	broad.mit.edu	37	18	61306911	61306911	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr18:61306911A>T	ENST00000341074.5	-	6	684	c.569T>A	c.(568-570)tTt>tAt	p.F190Y	SERPINB4_ENST00000356424.6_Missense_Mutation_p.F190Y	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	190					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TTCTTTTTTAAATTTATTCTC	0.299																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(568-570)tTt>tAt		serpin peptidase inhibitor, clade B (ovalbumin), member 4							55.0	57.0	57.0					18																	61306911		2202	4299	6501	SO:0001583	missense	6318							g.chr18:61306911A>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.569T>A	18.37:g.61306911A>T	ENSP00000343445:p.Phe190Tyr					SERPINB4_ENST00000356424.6_Missense_Mutation_p.F190Y	p.F190Y	NM_002974.2	NP_002965.1					6	684	-								A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.569T>A	CCDS11986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.030006|4.030006	0.75504|0.75504	.|.	.|.	ENSG00000206073|ENSG00000206073	ENST00000341074;ENST00000356424;ENST00000436264|ENST00000413673	D;D;D|.	0.94862|.	-3.54;-3.54;-3.54|.	4.27|4.27	4.27|4.27	0.50696|0.50696	Serpin domain (3);|.	0.000000|.	0.40554|.	N|.	0.001075|.	D|D	0.89444|0.89444	0.6717|0.6717	H|H	0.99697|0.99697	4.71|4.71	0.38007|0.38007	D|D	0.934428|0.934428	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.94181|0.94181	0.7432|0.7432	10|5	0.87932|.	D|.	0|.	.|.	12.7713|12.7713	0.57423|0.57423	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	190;190|.	P48594;Q9BYF7|.	SPB4_HUMAN;.|.	Y|I	190;190;147|192	ENSP00000343445:F190Y;ENSP00000348795:F190Y;ENSP00000399796:F147Y|.	ENSP00000343445:F190Y|.	F|L	-|-	2|1	0|2	SERPINB4|SERPINB4	59457891|59457891	1.000000|1.000000	0.71417|0.71417	0.028000|0.028000	0.17463|0.17463	0.012000|0.012000	0.07955|0.07955	8.907000|8.907000	0.92634|0.92634	1.797000|1.797000	0.52628|0.52628	0.491000|0.491000	0.48974|0.48974	TTT|TTA		0.299	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		4	116	0	0	0	1	0	4	116				
CST9L	128821	broad.mit.edu	37	20	23545640	23545640	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr20:23545640G>A	ENST00000376979.3	-	3	687	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	130						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGTCATCCAGGGCCTGGTGCT	0.552																																						ENST00000376979.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(388-390)cCc>cTc		cystatin 9-like							157.0	137.0	144.0					20																	23545640		2203	4300	6503	SO:0001583	missense	128821					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23545640G>A		CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"""cystatin 9 (mouse)-like"""			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.389C>T	20.37:g.23545640G>A	ENSP00000366178:p.Pro130Leu						p.P130L	NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN			3	687	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		130					B2R5A1	Missense_Mutation	SNP	ENST00000376979.3	37	c.389C>T	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034087	0.35893	.	.	ENSG00000101435	ENST00000376979	T	0.30182	1.54	1.74	1.74	0.24563	Proteinase inhibitor I25, cystatin (2);	0.212825	0.24067	N	0.041855	T	0.53594	0.1806	M	0.87381	2.88	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.34403	-0.9830	10	0.87932	D	0	.	6.9494	0.24536	0.0:0.0:1.0:0.0	.	130	Q9H4G1	CST9L_HUMAN	L	130	ENSP00000366178:P130L	ENSP00000366178:P130L	P	-	2	0	CST9L	23493640	0.525000	0.26290	0.058000	0.19502	0.007000	0.05969	2.709000	0.47160	1.262000	0.44165	0.305000	0.20034	CCC		0.552	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	NM_080610		121	159	0	0	0	1	0	121	159				
ADAD1	132612	broad.mit.edu	37	4	123336532	123336532	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:123336532A>T	ENST00000296513.2	+	11	1434		c.e11-1		ADAD1_ENST00000388725.2_Splice_Site|ADAD1_ENST00000388724.2_Splice_Site	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)						multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTGCTTTCTAGGTGATGGGA	0.343																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.e11-1		adenosine deaminase domain containing 1 (testis-specific)							73.0	72.0	73.0					4																	123336532		2203	4299	6502	SO:0001630	splice_region_variant	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123336532A>T	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1250-1A>T	4.37:g.123336532A>T						ADAD1_ENST00000388725.2_Splice_Site|ADAD1_ENST00000388724.2_Splice_Site		NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			11	1434	+								A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Splice_Site	SNP	ENST00000296513.2	37		CCDS34058.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.181486	0.78677	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2863	0.73831	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAD1	123555982	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.045000	0.89436	2.020000	0.59435	0.528000	0.53228	.		0.343	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243	Intron	5	229	0	0	0	1	0	5	229				
MND1	84057	broad.mit.edu	37	4	154276832	154276832	+	Silent	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:154276832G>A	ENST00000504860.1	+	2	94	c.51G>A	c.(49-51)ttG>ttA	p.L17L	MND1_ENST00000503967.1_3'UTR|MND1_ENST00000240488.3_Silent_p.L32L					meiotic nuclear divisions 1 homolog (S. cerevisiae)											large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					TAAAAGACTTGGAGAAGATTG	0.279																																						ENST00000240488.3																			0				large_intestine(2)|lung(1)	3						c.(94-96)ttG>ttA		meiotic nuclear divisions 1 homolog (S. cerevisiae)							51.0	56.0	54.0					4																	154276832		2202	4294	6496	SO:0001819	synonymous_variant	84057				DNA recombination|meiosis	nucleus	DNA binding	g.chr4:154276832G>A	AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000504860.1:c.51G>A	4.37:g.154276832G>A						MND1_ENST00000504860.1_Silent_p.L17L|MND1_ENST00000503967.1_3'UTR	p.L32L	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN			3	185	+	all_hematologic(180;0.093)		32						Silent	SNP	ENST00000504860.1	37	c.96G>A																																																																																					0.279	MND1-002	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365195.1	NM_032117		4	145	0	0	0	1	0	4	145				
RASGRP1	10125	broad.mit.edu	37	15	38808503	38808503	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:38808503A>T	ENST00000310803.5	-	6	747	c.570T>A	c.(568-570)aaT>aaA	p.N190K	RASGRP1_ENST00000450598.2_Missense_Mutation_p.N190K|RASGRP1_ENST00000539159.1_Missense_Mutation_p.N142K|RASGRP1_ENST00000558164.1_Missense_Mutation_p.N190K|RASGRP1_ENST00000559830.1_Missense_Mutation_p.N190K|RASGRP1_ENST00000561180.1_Missense_Mutation_p.N241K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	190					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCTTGCTGGTATTTGATTTTA	0.458																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(568-570)aaT>aaA		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							166.0	151.0	156.0					15																	38808503		1885	4103	5988	SO:0001583	missense	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38808503A>T	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.570T>A	15.37:g.38808503A>T	ENSP00000310244:p.Asn190Lys					RASGRP1_ENST00000539159.1_Missense_Mutation_p.N142K|RASGRP1_ENST00000559830.1_Missense_Mutation_p.N190K|RASGRP1_ENST00000450598.2_Missense_Mutation_p.N190K|RASGRP1_ENST00000558164.1_Missense_Mutation_p.N190K|RASGRP1_ENST00000561180.1_Missense_Mutation_p.N241K	p.N190K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	6	747	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	190					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	c.570T>A	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.385213	0.61956	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.03	-3.13	0.05266	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	L	0.51422	1.61	0.50313	D	0.999862	D;P;B;B	0.56521	0.976;0.945;0.034;0.057	P;P;B;B	0.52598	0.703;0.549;0.032;0.07	T	0.52238	-0.8602	10	0.05721	T	0.95	-30.471	17.0703	0.86571	0.1363:0.0:0.8637:0.0	.	190;190;190;190	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	K	190;190;190;190;142;190;190	ENSP00000310244:N190K;ENSP00000388540:N190K;ENSP00000444762:N142K;ENSP00000413105:N190K	ENSP00000310244:N190K	N	-	3	2	RASGRP1	36595795	1.000000	0.71417	0.936000	0.37596	0.995000	0.86356	1.144000	0.31565	-0.571000	0.06014	-0.250000	0.11733	AAT		0.458	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		7	282	0	0	0	1	0	7	282				
ABCC11	85320	broad.mit.edu	37	16	48218463	48218463	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:48218463C>A	ENST00000394747.1	-	22	3495	c.3146G>T	c.(3145-3147)aGg>aTg	p.R1049M	ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049M|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049M|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049M	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1049	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GATCTCCAGCCTCAATGCCAT	0.483																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3145-3147)aGg>aTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							197.0	164.0	175.0					16																	48218463		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48218463C>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3146G>T	16.37:g.48218463C>A	ENSP00000378230:p.Arg1049Met					ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049M|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049M|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049M	p.R1049M	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			22	3495	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1049			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3146G>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.206115	0.39003	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	5.57	3.62	0.41486	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.293222	0.33938	N	0.004410	D	0.93785	0.8013	M	0.86651	2.83	0.27225	N	0.959569	D;D	0.71674	0.998;0.994	P;D	0.70487	0.891;0.969	D	0.87595	0.2493	10	0.66056	D	0.02	-14.9349	8.8685	0.35300	0.0:0.8275:0.0:0.1725	.	1049;1049	Q96J66-2;Q96J66	.;ABCCB_HUMAN	M	1049	ENSP00000311326:R1049M;ENSP00000349017:R1049M;ENSP00000378231:R1049M;ENSP00000378230:R1049M	ENSP00000311326:R1049M	R	-	2	0	ABCC11	46775964	0.185000	0.23213	0.204000	0.23530	0.229000	0.25112	1.868000	0.39509	0.720000	0.32209	0.563000	0.77884	AGG		0.483	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		143	201	1	0	8.59004e-37	1	9.66379e-37	143	201				
NRXN1	9378	broad.mit.edu	37	2	50724784	50724784	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr2:50724784G>A	ENST00000406316.2	-	14	4042	c.2566C>T	c.(2566-2568)Cgg>Tgg	p.R856W	NRXN1_ENST00000404971.1_Missense_Mutation_p.R896W|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.R856W|NRXN1_ENST00000405472.3_Missense_Mutation_p.R848W|NRXN1_ENST00000406859.3_Missense_Mutation_p.R856W|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000402717.3_Missense_Mutation_p.R848W	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	856	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.R856W(1)|p.R897W(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAAAGATACCGTCGTTCTGTG	0.403																																						ENST00000404971.1																			2	Substitution - Missense(2)	p.R856W(1)|p.R897W(1)	large_intestine(2)	breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2686-2688)Cgg>Tgg		neurexin 1							92.0	85.0	87.0					2																	50724784		1943	4141	6084	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50724784G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2566C>T	2.37:g.50724784G>A	ENSP00000384311:p.Arg856Trp					NRXN1_ENST00000405472.3_Missense_Mutation_p.R848W|NRXN1_ENST00000406316.2_Missense_Mutation_p.R856W|NRXN1_ENST00000401669.2_Missense_Mutation_p.R856W|NRXN1_ENST00000406859.3_Missense_Mutation_p.R856W|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.R848W	p.R896W	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		15	4025	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	856					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2686C>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358195	0.82243	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.97	4.13	0.48395	.	0.000000	0.85682	D	0.000000	D	0.88437	0.6436	M	0.83012	2.62	0.45097	D	0.998113	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.995	D	0.89273	0.3606	10	0.59425	D	0.04	.	15.3392	0.74282	0.0:0.0:0.7447:0.2553	.	896;856;848	Q9ULB1-3;F8WB18;A7E294	.;.;.	W	896;856;848;856;897;848;856	ENSP00000385142:R896W;ENSP00000384311:R856W;ENSP00000434015:R848W;ENSP00000385017:R856W;ENSP00000385434:R848W;ENSP00000385681:R856W	ENSP00000385017:R856W	R	-	1	2	NRXN1	50578288	1.000000	0.71417	0.079000	0.20413	0.990000	0.78478	6.400000	0.73252	0.813000	0.34350	0.561000	0.74099	CGG		0.403	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			8	207	0	0	0	1	0	8	207				
ITFG3	83986	broad.mit.edu	37	16	309548	309548	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:309548A>T	ENST00000399932.3	+	4	786	c.335A>T	c.(334-336)tAt>tTt	p.Y112F	ITFG3_ENST00000600536.1_Missense_Mutation_p.Y112F|ITFG3_ENST00000301678.3_Missense_Mutation_p.Y112F|ITFG3_ENST00000442458.2_Missense_Mutation_p.Y112F|ITFG3_ENST00000301679.2_Missense_Mutation_p.Y112F|ITFG3_ENST00000450082.2_Missense_Mutation_p.Y112F	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	112						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CTTTTTCTTTATAAAAACACC	0.413																																						ENST00000399932.3																			0				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(334-336)tAt>tTt		integrin alpha FG-GAP repeat containing 3							144.0	147.0	146.0					16																	309548		1848	4096	5944	SO:0001583	missense	83986					integral to membrane		g.chr16:309548A>T	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.335A>T	16.37:g.309548A>T	ENSP00000382814:p.Tyr112Phe					ITFG3_ENST00000301678.3_Missense_Mutation_p.Y112F|ITFG3_ENST00000301679.2_Missense_Mutation_p.Y112F|ITFG3_ENST00000600536.1_Missense_Mutation_p.Y112F|ITFG3_ENST00000450082.2_Missense_Mutation_p.Y112F|ITFG3_ENST00000442458.2_Missense_Mutation_p.Y112F	p.Y112F			Q9H0X4	ITFG3_HUMAN			4	786	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	112					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	ENST00000399932.3	37	c.335A>T	CCDS10402.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.704|9.704	1.155282|1.155282	0.21454|0.21454	.|.	.|.	ENSG00000167930|ENSG00000167930	ENST00000421000|ENST00000399932;ENST00000301679;ENST00000438220;ENST00000453430;ENST00000442458;ENST00000449945;ENST00000420046;ENST00000301678;ENST00000450082	.|T;T;T;T;T;T;T;T	.|0.56611	.|0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.35|5.35	5.35|5.35	0.76521|0.76521	.|Quinonprotein alcohol dehydrogenase-like (1);	.|0.288248	.|0.34531	.|N	.|0.003899	T|T	0.41282|0.41282	0.1152|0.1152	L|L	0.47190|0.47190	1.495|1.495	0.32719|0.32719	N|N	0.510614|0.510614	.|B;B	.|0.31931	.|0.347;0.347	.|B;B	.|0.30105	.|0.111;0.111	T|T	0.51741|0.51741	-0.8667|-0.8667	5|10	.|0.21014	.|T	.|0.42	-26.5365|-26.5365	8.5695|8.5695	0.33561|0.33561	0.7314:0.0:0.0:0.2686|0.7314:0.0:0.0:0.2686	.|.	.|112;112	.|Q9H0X4-2;Q9H0X4	.|.;ITFG3_HUMAN	L|F	41|112	.|ENSP00000382814:Y112F;ENSP00000301679:Y112F;ENSP00000399150:Y112F;ENSP00000397477:Y112F;ENSP00000407669:Y112F;ENSP00000398433:Y112F;ENSP00000301678:Y112F;ENSP00000411394:Y112F	.|ENSP00000301678:Y112F	I|Y	+|+	1|2	0|0	ITFG3|ITFG3	249549|249549	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.632000|0.632000	0.37999|0.37999	3.477000|3.477000	0.53151|0.53151	2.041000|2.041000	0.60428|0.60428	0.533000|0.533000	0.62120|0.62120	ATA|TAT		0.413	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		10	320	0	0	0	1	0	10	320				
LAMA1	284217	broad.mit.edu	37	18	7046368	7046368	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr18:7046368T>A	ENST00000389658.3	-	6	862		c.e6-2			NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1						axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATAATAATACTAAGGAAAAAG	0.338																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.e6-2		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						50.0	53.0	52.0					18																	7046368		2203	4300	6503	SO:0001630	splice_region_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7046368T>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.769-2A>T	18.37:g.7046368T>A								NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			6	862	-		Colorectal(10;0.172)							Splice_Site	SNP	ENST00000389658.3	37		CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621017	0.87460	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0507	0.80760	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA1	7036368	1.000000	0.71417	0.939000	0.37840	0.985000	0.73830	7.829000	0.86735	2.243000	0.73865	0.528000	0.53228	.		0.338	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	Intron	5	121	0	0	0	1	0	5	121				
BCL2L12	83596	broad.mit.edu	37	19	50169227	50169227	+	Silent	SNP	G	G	A	rs201895036	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:50169227G>A	ENST00000246785.3	+	1	405	c.147G>A	c.(145-147)gtG>gtA	p.V49V	IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000377139.3_5'Flank|IRF3_ENST00000597198.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000596765.1_5'Flank|BCL2L12_ENST00000441864.2_Silent_p.V49V|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000600022.1_5'Flank|BCL2L12_ENST00000246784.3_Silent_p.V49V	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	49					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CCGGCCCAGTGCGCAGGCGCG	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		14839	0.002		0.0	False		,,,				2504	0.0					ENST00000246785.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8						c.(145-147)gtG>gtA		BCL2-like 12 (proline rich)							21.0	22.0	21.0					19																	50169227		2202	4300	6502	SO:0001819	synonymous_variant	83596				apoptosis			g.chr19:50169227G>A	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.147G>A	19.37:g.50169227G>A						BCL2L12_ENST00000441864.2_Silent_p.V49V|BCL2L12_ENST00000246784.3_Silent_p.V49V	p.V49V	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)	1	405	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	49					Q3SY11|Q3SY13|Q96I96|Q9HB08	Silent	SNP	ENST00000246785.3	37	c.147G>A	CCDS12776.1																																																																																				0.617	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	NM_052842		6	8	0	0	0	1	0	6	8				
ZKSCAN4	387032	broad.mit.edu	37	6	28219931	28219931	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:28219931G>A	ENST00000377294.2	-	0	71				ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTTATAGTCCGTGCCTTTGCA	0.537																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18								zinc finger with KRAB and SCAN domains 4																																						387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28219931G>A	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511		6.37:g.28219931G>A						ZKSCAN4_ENST00000423974.2_Intron		NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			0	71	-								B2RE32|Q5U7L4	Translation_Start_Site	SNP	ENST00000377294.2	37		CCDS4647.1																																																																																				0.537	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		6	2	0	0	0	1	0	6	2				
C6orf222	389384	broad.mit.edu	37	6	36298372	36298372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:36298372C>T	ENST00000437635.2	-	2	273	c.96G>A	c.(94-96)tgG>tgA	p.W32*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	32										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AATGGCAGTCCCACGACTCCG	0.647																																						ENST00000437635.2																			0				breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						c.(94-96)tgG>tgA		chromosome 6 open reading frame 222							51.0	58.0	56.0					6																	36298372		2202	4300	6502	SO:0001587	stop_gained	389384							g.chr6:36298372C>T		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.96G>A	6.37:g.36298372C>T	ENSP00000418983:p.Trp32*						p.W32*	NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN			2	273	-			32					B2RTY8	Nonsense_Mutation	SNP	ENST00000437635.2	37	c.96G>A	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184556	0.78677	.	.	ENSG00000189325	ENST00000437635	.	.	.	4.76	2.9	0.33743	.	1.944880	0.02601	N	0.101005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-22.7382	6.4133	0.21702	0.0:0.7119:0.1857:0.1024	.	.	.	.	X	32	.	ENSP00000418983:W32X	W	-	3	0	C6orf222	36406350	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	0.328000	0.19681	0.491000	0.27793	0.471000	0.43371	TGG		0.647	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		78	17	0	0	0	1	0	78	17				
MON2	23041	broad.mit.edu	37	12	62888824	62888824	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr12:62888824T>G	ENST00000393632.2	+	4	723	c.332T>G	c.(331-333)cTt>cGt	p.L111R	MON2_ENST00000280379.6_Missense_Mutation_p.L111R|MON2_ENST00000552115.1_Missense_Mutation_p.L111R|MON2_ENST00000552738.1_Missense_Mutation_p.L111R|MON2_ENST00000546600.1_Missense_Mutation_p.L111R|MON2_ENST00000549378.1_Intron|MON2_ENST00000393629.2_Missense_Mutation_p.L111R|MON2_ENST00000393630.3_Missense_Mutation_p.L111R	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	111					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ATTAACATGCTTTGGCAGCTA	0.318																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(331-333)cTt>cGt		MON2 homolog (S. cerevisiae)							85.0	80.0	82.0					12																	62888824		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62888824T>G		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.332T>G	12.37:g.62888824T>G	ENSP00000377252:p.Leu111Arg					MON2_ENST00000546600.1_Missense_Mutation_p.L111R|MON2_ENST00000393632.2_Missense_Mutation_p.L111R|MON2_ENST00000552115.1_Missense_Mutation_p.L111R|MON2_ENST00000552738.1_Missense_Mutation_p.L111R|MON2_ENST00000549378.1_Intron|MON2_ENST00000280379.6_Missense_Mutation_p.L111R|MON2_ENST00000393629.2_Missense_Mutation_p.L111R	p.L111R	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	4	723	+			111					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.332T>G	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.494219	0.85069	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.76578	-1.01;-1.03;-1.03;-1.01;-1.01;-1.03;0.64	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.87928	0.6301	M	0.82132	2.575	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.998;0.997;0.998	D	0.88745	0.3246	9	.	.	.	-18.4411	14.2865	0.66249	0.0:0.0:0.0:1.0	.	111;111;111;111	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	R	111;111;111;111;39;111;111;111	ENSP00000377252:L111R;ENSP00000377250:L111R;ENSP00000280379:L111R;ENSP00000447407:L111R;ENSP00000449215:L111R;ENSP00000377249:L111R;ENSP00000446635:L111R	.	L	+	2	0	MON2	61175091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.170000	0.68504	0.482000	0.46254	CTT		0.318	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		4	95	0	0	0	1	0	4	95				
TRPM3	80036	broad.mit.edu	37	9	73206031	73206031	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:73206031C>G	ENST00000377111.2	-	21	3346	c.3103G>C	c.(3103-3105)Gag>Cag	p.E1035Q	TRPM3_ENST00000360823.2_Missense_Mutation_p.E897Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.E907Q|TRPM3_ENST00000377110.3_Missense_Mutation_p.E1035Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.E894Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.E894Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.E897Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E884Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1039Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E907Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.E882Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1062Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1060					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CATGATGGCTCCTCATTGGGA	0.458																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(3103-3105)Gag>Cag		transient receptor potential cation channel, subfamily M, member 3							151.0	134.0	140.0					9																	73206031		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73206031C>G	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3103G>C	9.37:g.73206031C>G	ENSP00000366315:p.Glu1035Gln					TRPM3_ENST00000360823.2_Missense_Mutation_p.E897Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.E882Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.E907Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E907Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.E897Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E884Q|TRPM3_ENST00000377111.2_Missense_Mutation_p.E1035Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.E894Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1039Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1062Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.E894Q	p.E1035Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			21	3346	-			1060					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3103G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.39|15.39	2.820181|2.820181	0.50633|0.50633	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	D;D;D;D;D;D;D;D;D;D;D|.	0.98474|.	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.052428|.	0.85682|.	D|.	0.000000|.	T|T	0.59797|0.59797	0.2220|0.2220	L|L	0.31804|0.31804	0.96|0.96	0.49389|0.49389	D|D	0.999786|0.999786	B;B;D;B;B;D;B;B|.	0.76494|.	0.185;0.058;0.987;0.221;0.11;0.999;0.317;0.182|.	B;B;P;B;B;D;B;B|.	0.68192|.	0.281;0.037;0.828;0.309;0.156;0.956;0.281;0.081|.	T|T	0.52403|0.52403	-0.8580|-0.8580	10|5	0.34782|.	T|.	0.22|.	-23.0749|-23.0749	19.9941|19.9941	0.97377|0.97377	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1035;1035;1025;1039;897;894;1007;882|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	Q|A	1035;1035;907;897;894;1039;894;882;907;897;1062|883	ENSP00000366315:E1035Q;ENSP00000366314:E1035Q;ENSP00000366310:E907Q;ENSP00000354066:E897Q;ENSP00000366309:E894Q;ENSP00000350140:E1039Q;ENSP00000386127:E894Q;ENSP00000379581:E882Q;ENSP00000379587:E907Q;ENSP00000350791:E897Q;ENSP00000389542:E1062Q|.	ENSP00000350140:E1039Q|.	E|G	-|-	1|2	0|0	TRPM3|TRPM3	72395851|72395851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.735000|2.735000	0.93741|0.93741	0.637000|0.637000	0.83480|0.83480	GAG|GGA		0.458	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		31	533	0	0	0	1	0	31	533				
IFITM1	8519	broad.mit.edu	37	11	314263	314263	+	Silent	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr11:314263C>A	ENST00000408968.3	+	1	411	c.93C>A	c.(91-93)acC>acA	p.T31T	IFITM1_ENST00000328221.5_Silent_p.T31T|IFITM1_ENST00000528780.1_Silent_p.T31T	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	31					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACAGCGAGACCTCCGTGCCCG	0.582																																						ENST00000408968.3																			0				large_intestine(1)|lung(3)	4						c.(91-93)acC>acA		interferon induced transmembrane protein 1							119.0	126.0	124.0					11																	314263		2045	4180	6225	SO:0001819	synonymous_variant	8519				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	g.chr11:314263C>A	J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"""CD molecules"""	5412	protein-coding gene	gene with protein product	"""interferon-induced transmembrane protein 1"""	604456	"""interferon induced transmembrane protein 1 (9-27)"""	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.93C>A	11.37:g.314263C>A						IFITM1_ENST00000528780.1_Silent_p.T31T|IFITM1_ENST00000328221.5_Silent_p.T31T	p.T31T	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	411	+		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	31					Q15322|Q53XZ0	Silent	SNP	ENST00000408968.3	37	c.93C>A	CCDS41584.1																																																																																				0.582	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383595.1	NM_003641		3	113	1	0	1	1	1	3	113				
ELP4	26610	broad.mit.edu	37	11	31616324	31616324	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr11:31616324C>T	ENST00000350638.5	+	4	424	c.389C>T	c.(388-390)cCa>cTa	p.P130L	ELP4_ENST00000379163.5_Missense_Mutation_p.P130L|ELP4_ENST00000395934.2_Missense_Mutation_p.P130L	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	130					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TAGGAACTTCCAGCACCATTA	0.284																																						ENST00000395934.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20						c.(388-390)cCa>cTa		elongator acetyltransferase complex subunit 4							66.0	63.0	64.0					11																	31616324		1808	4066	5874	SO:0001583	missense	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31616324C>T	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.389C>T	11.37:g.31616324C>T	ENSP00000298937:p.Pro130Leu					ELP4_ENST00000350638.5_Missense_Mutation_p.P130L|ELP4_ENST00000379163.5_Missense_Mutation_p.P130L	p.P130L			Q96EB1	ELP4_HUMAN			4	396	+	Lung SC(675;0.225)		130					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.389C>T	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021798	0.75275	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	D;D;D	0.83755	-1.76;-1.76;-1.76	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.91372	0.7278	M	0.86805	2.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92248	0.5806	10	0.72032	D	0.01	-0.2929	12.3103	0.54925	0.0:0.9219:0.0:0.0781	.	130;130;130	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	L	130	ENSP00000298937:P130L;ENSP00000368461:P130L;ENSP00000379267:P130L	ENSP00000298937:P130L	P	+	2	0	ELP4	31572900	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.805000	0.62561	2.539000	0.85634	0.460000	0.39030	CCA		0.284	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		59	84	0	0	0	1	0	59	84				
GRM6	2916	broad.mit.edu	37	5	178410177	178410177	+	Missense_Mutation	SNP	C	C	T	rs151103990	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr5:178410177C>T	ENST00000517717.1	-	10	2208	c.2170G>A	c.(2170-2172)Gtg>Atg	p.V724M	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.V724M			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	724					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TAGTCAATCACGCTGTGTGGG	0.607																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(2170-2172)Gtg>Atg		glutamate receptor, metabotropic 6		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	58.0	49.0	52.0		2170	2.6	0.7	5	dbSNP_134	52	9,8591	7.1+/-27.0	0,9,4291	yes	missense	GRM6	NM_000843.3	21	0,10,6493	TT,TC,CC		0.1047,0.0227,0.0769	benign	724/878	178410177	10,12996	2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178410177C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2170G>A	5.37:g.178410177C>T	ENSP00000430767:p.Val724Met					GRM6_ENST00000517717.1_Missense_Mutation_p.V724M|RP11-281O15.4_ENST00000519491.1_RNA	p.V724M	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	9	2348	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	724						Missense_Mutation	SNP	ENST00000517717.1	37	c.2170G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133924	0.37630	2.27E-4	0.001047	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.89123	-2.47;-2.47	5.33	2.58	0.30949	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.86887	0.6041	L	0.38175	1.15	0.27099	N	0.962676	B;P	0.51351	0.434;0.944	B;P	0.55824	0.165;0.785	T	0.75969	-0.3130	9	0.33940	T	0.23	.	4.3315	0.11066	0.1577:0.5874:0.0:0.2549	.	724;18	O15303;Q5HYM4	GRM6_HUMAN;.	M	724	ENSP00000231188:V724M;ENSP00000430767:V724M	ENSP00000231188:V724M	V	-	1	0	GRM6	178342783	0.406000	0.25344	0.653000	0.29593	0.679000	0.39708	0.879000	0.28146	0.339000	0.23719	0.484000	0.47621	GTG		0.607	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			5	25	0	0	0	1	0	5	25				
TBX1	6899	broad.mit.edu	37	22	19752564	19752564	+	Silent	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr22:19752564C>T	ENST00000329705.7	+	6	897	c.768C>T	c.(766-768)gcC>gcT	p.A256A	TBX1_ENST00000332710.4_Silent_p.A256A|TBX1_ENST00000359500.3_Silent_p.A256A	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	256					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				AGAAATATGCCGAGGAGAACT	0.542																																						ENST00000332710.4																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(766-768)gcC>gcT		T-box 1							104.0	99.0	100.0					22																	19752564		2203	4300	6503	SO:0001819	synonymous_variant	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19752564C>T	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.768C>T	22.37:g.19752564C>T						TBX1_ENST00000329705.7_Silent_p.A256A|TBX1_ENST00000359500.3_Silent_p.A256A	p.A256A	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN			6	897	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	256					C6G493|C6G494|O43436|Q96RJ2	Silent	SNP	ENST00000329705.7	37	c.768C>T	CCDS13766.1																																																																																				0.542	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		3	91	0	0	0	1	0	3	91				
ZNF79	7633	broad.mit.edu	37	9	130207140	130207140	+	Silent	SNP	A	A	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:130207140A>G	ENST00000342483.5	+	5	1567	c.1161A>G	c.(1159-1161)aaA>aaG	p.K387K	ZNF79_ENST00000543471.1_Silent_p.K363K|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	387					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)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTGGGGAGAAACCCTACAAGT	0.532																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(1159-1161)aaA>aaG		zinc finger protein 79							75.0	72.0	73.0					9																	130207140		2203	4300	6503	SO:0001819	synonymous_variant	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130207140A>G	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1161A>G	9.37:g.130207140A>G						ZNF79_ENST00000543471.1_Silent_p.K363K	p.K387K	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1567	+			387					Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	c.1161A>G	CCDS6871.1																																																																																				0.532	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		9	240	0	0	0	1	0	9	240				
MORF4L1	10933	broad.mit.edu	37	15	79186408	79186408	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:79186408C>T	ENST00000331268.5	+	11	959	c.755C>T	c.(754-756)gCg>gTg	p.A252V	MORF4L1_ENST00000559345.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000558746.1_Missense_Mutation_p.A186V|MORF4L1_ENST00000558502.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.A238V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.A213V|MORF4L1_ENST00000561171.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	252	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AGGGAGTATGCGGTTAATGAA	0.333																																						ENST00000331268.5																			0				breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						c.(754-756)gCg>gTg		mortality factor 4 like 1							95.0	102.0	99.0					15																	79186408		2196	4293	6489	SO:0001583	missense	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79186408C>T	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.755C>T	15.37:g.79186408C>T	ENSP00000331310:p.Ala252Val					MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558746.1_Missense_Mutation_p.A186V|MORF4L1_ENST00000558502.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000559345.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.A213V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.A238V	p.A252V	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN			11	959	+			252			Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	ENST00000331268.5	37	c.755C>T	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761130	0.69763	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.08458	3.09;3.09;3.09	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.11580	0.0282	L	0.48174	1.505	0.80722	D	1	D;D	0.67145	0.996;0.978	P;B	0.48840	0.592;0.366	T	0.20107	-1.0285	10	0.09590	T	0.72	-22.9863	15.8341	0.78787	0.0:1.0:0.0:0.0	.	213;252	Q9UBU8-2;Q9UBU8	.;MO4L1_HUMAN	V	238;213;252	ENSP00000368850:A238V;ENSP00000408880:A213V;ENSP00000331310:A252V	ENSP00000331310:A252V	A	+	2	0	MORF4L1	76973463	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.604000	0.82830	2.123000	0.65237	0.650000	0.86243	GCG		0.333	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791		4	150	0	0	0	1	0	4	150				
ASAP1	50807	broad.mit.edu	37	8	131127939	131127939	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr8:131127939C>T	ENST00000518721.1	-	23	2334	c.2107G>A	c.(2107-2109)Gta>Ata	p.V703I	ASAP1_ENST00000357668.1_Missense_Mutation_p.V703I	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	703					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCATATTCTACGTGGACGTGT	0.403																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2107-2109)Gta>Ata		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							269.0	239.0	249.0					8																	131127939		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131127939C>T	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2107G>A	8.37:g.131127939C>T	ENSP00000429900:p.Val703Ile					ASAP1_ENST00000518721.1_Missense_Mutation_p.V703I	p.V703I			Q9ULH1	ASAP1_HUMAN			22	2134	-			703					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.2107G>A	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.803533|4.803533	0.90623|0.90623	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124;ENST00000519483|ENST00000343135;ENST00000357668;ENST00000518721	.|T;T	.|0.07688	.|3.17;3.17	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Ankyrin repeat-containing domain (1);	.|0.119358	.|0.56097	.|D	.|0.000035	T|T	0.23289|0.23289	0.0563|0.0563	L|L	0.49640|0.49640	1.575|1.575	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.63880	.|0.988;0.988;0.993	.|D;D;D	.|0.74023	.|0.97;0.97;0.982	T|T	0.00692|0.00692	-1.1607|-1.1607	5|10	.|0.26408	.|T	.|0.33	.|.	18.0242|18.0242	0.89263|0.89263	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|703;703;706	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	H|I	523;116|706;703;703	.|ENSP00000350297:V703I;ENSP00000429900:V703I	.|ENSP00000344591:V706I	R|V	-|-	2|1	0|0	ASAP1|ASAP1	131197121|131197121	1.000000|1.000000	0.71417|0.71417	0.918000|0.918000	0.36340|0.36340	0.907000|0.907000	0.53573|0.53573	7.729000|7.729000	0.84864|0.84864	2.581000|2.581000	0.87130|0.87130	0.650000|0.650000	0.86243|0.86243	CGT|GTA		0.403	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		24	287	0	0	0	1	0	24	287				
SLC16A2	6567	broad.mit.edu	37	X	73745660	73745660	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chrX:73745660G>T	ENST00000587091.1	+	4	1279	c.1102G>T	c.(1102-1104)Ggc>Tgc	p.G368C	SLC16A2_ENST00000276033.5_Missense_Mutation_p.G442C	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	368					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	GGCTACCTCAGGCCTTGGGCG	0.517																																						ENST00000276033.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21						c.(1324-1326)Ggc>Tgc		solute carrier family 16, member 2 (thyroid hormone transporter)	Pyruvic acid(DB00119)						192.0	162.0	172.0					X																	73745660		2203	4300	6503	SO:0001583	missense	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73745660G>T		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1102G>T	X.37:g.73745660G>T	ENSP00000465734:p.Gly368Cys					SLC16A2_ENST00000587091.1_Missense_Mutation_p.G368C	p.G442C			P36021	MOT8_HUMAN			4	1490	+			368					Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.1324G>T	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128383	0.77549	.	.	ENSG00000147100	ENST00000276033	T	0.57595	0.39	4.94	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.56381	0.1981	M	0.66378	2.025	0.80722	D	1	B	0.32382	0.368	B	0.35353	0.201	T	0.62067	-0.6932	10	0.66056	D	0.02	.	17.4803	0.87671	0.0:0.0:1.0:0.0	.	368	P36021	MOT8_HUMAN	C	442	ENSP00000276033:G442C	ENSP00000276033:G442C	G	+	1	0	SLC16A2	73662385	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.472000	0.97709	2.052000	0.61016	0.597000	0.82753	GGC		0.517	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			5	176	1	0	5.9392e-07	1	6.41434e-07	5	176				
TP53	7157	broad.mit.edu	37	17	7579699	7579699	+	Splice_Site	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr17:7579699C>A	ENST00000269305.4	-	3	286		c.e3+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTTGTCCTTACCAGAACGTTG	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)	liver(8)|bone(4)|central_nervous_system(2)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e3+1	Other conserved DNA damage response genes	tumor protein p53							41.0	42.0	42.0					17																	7579699		2202	4298	6500	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579699C>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.96+1G>T	17.37:g.7579699C>A		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_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site		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)	3	229	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297523	0.81025	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6079	0.51043	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520424	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.928000	0.40104	2.466000	0.83321	0.561000	0.74099	.		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	183	28	1	0	4.76554e-48	1	5.4753e-48	183	28				
RPTOR	57521	broad.mit.edu	37	17	78854281	78854281	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr17:78854281T>C	ENST00000306801.3	+	14	1938	c.1576T>C	c.(1576-1578)Tac>Cac	p.Y526H	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	526					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCGGACCCCTACATGCCAGT	0.632																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(1576-1578)Tac>Cac		regulatory associated protein of MTOR, complex 1							90.0	62.0	71.0					17																	78854281		2203	4299	6502	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78854281T>C		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1576T>C	17.37:g.78854281T>C	ENSP00000307272:p.Tyr526His					RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000575542.1_3'UTR	p.Y526H	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			14	1938	+			526					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.1576T>C	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.489360	0.44249	.	.	ENSG00000141564	ENST00000306801	T	0.33216	1.42	4.87	4.87	0.63330	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.23806	0.0576	L	0.27053	0.805	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.03193	-1.1062	10	0.38643	T	0.18	.	14.7688	0.69659	0.0:0.0:0.0:1.0	.	526	Q8N122	RPTOR_HUMAN	H	526	ENSP00000307272:Y526H	ENSP00000307272:Y526H	Y	+	1	0	RPTOR	76468876	1.000000	0.71417	0.901000	0.35422	0.935000	0.57460	7.437000	0.80417	1.942000	0.56320	0.460000	0.39030	TAC		0.632	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		2	13	0	0	0	1	0	2	13				
LTBP4	8425	broad.mit.edu	37	19	41133075	41133075	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:41133075G>A	ENST00000308370.7	+	32	4379	c.4379G>A	c.(4378-4380)cGc>cAc	p.R1460H	LTBP4_ENST00000204005.9_Missense_Mutation_p.R1423H|LTBP4_ENST00000545697.1_Missense_Mutation_p.R828H|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1393H	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1461	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCTTCGCCCGCCGGGAGGCT	0.657																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(4378-4380)cGc>cAc		latent transforming growth factor beta binding protein 4							14.0	21.0	19.0					19																	41133075		1922	4104	6026	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41133075G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4379G>A	19.37:g.41133075G>A	ENSP00000311905:p.Arg1460His					LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1393H|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1423H|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.R828H	p.R1460H	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		32	4379	+			1461			Pro-rich.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.4379G>A		.	.	.	.	.	.	.	.	.	.	G	19.10	3.761988	0.69763	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	T;D;T;T	0.83506	-1.38;-1.73;-1.39;-1.37	4.71	4.71	0.59529	.	0.221145	0.23317	N	0.049498	D	0.85008	0.5599	.	.	.	0.33197	D	0.551592	D;D;P;D;D;D	0.71674	0.986;0.986;0.955;0.975;0.975;0.998	P;P;B;P;P;P	0.54270	0.674;0.674;0.379;0.474;0.474;0.747	D	0.87226	0.2257	9	0.33940	T	0.23	.	13.034	0.58859	0.0:0.0:1.0:0.0	.	221;473;681;1393;1461;1423	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	H	1423;828;1460;1393;221	ENSP00000204005:R1423H;ENSP00000441054:R828H;ENSP00000311905:R1460H;ENSP00000380031:R1393H	ENSP00000204005:R1423H	R	+	2	0	LTBP4	45824915	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.191000	0.42640	2.441000	0.82636	0.563000	0.77884	CGC		0.657	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		4	4	0	0	0	1	0	4	4				
GSTCD	79807	broad.mit.edu	37	4	106640215	106640215	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:106640215A>T	ENST00000515279.1	+	3	646		c.e3-1		GSTCD_ENST00000394728.3_Splice_Site|GSTCD_ENST00000394730.3_Splice_Site|GSTCD_ENST00000507281.1_Splice_Site|GSTCD_ENST00000360505.5_Splice_Site|GSTCD_ENST00000515255.1_Intron			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing							extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTTGTTTTGTAGGTTAGTCAG	0.338																																						ENST00000515279.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14						c.e3-1		glutathione S-transferase, C-terminal domain containing							54.0	62.0	59.0					4																	106640215		2192	4295	6487	SO:0001630	splice_region_variant	79807					cytoplasm	rRNA methyltransferase activity	g.chr4:106640215A>T	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.427-1A>T	4.37:g.106640215A>T						GSTCD_ENST00000507281.1_Splice_Site|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394728.3_Splice_Site|GSTCD_ENST00000394730.3_Splice_Site|GSTCD_ENST00000360505.5_Splice_Site				Q8NEC7	GSTCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)	3	646	+		Hepatocellular(203;0.217)						A8K8J0|A8MVD3|H9KV97|Q9H8S3	Splice_Site	SNP	ENST00000515279.1	37		CCDS43257.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.383790	0.61845	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000510865;ENST00000509336;ENST00000394728	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0247	0.71659	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GSTCD	106859664	1.000000	0.71417	0.983000	0.44433	0.779000	0.44077	8.400000	0.90200	2.133000	0.65898	0.482000	0.46254	.		0.338	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751	Intron	7	270	0	0	0	1	0	7	270				
CSMD3	114788	broad.mit.edu	37	8	113599447	113599447	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr8:113599447C>T	ENST00000297405.5	-	23	3977	c.3733G>A	c.(3733-3735)Gca>Aca	p.A1245T	CSMD3_ENST00000343508.3_Missense_Mutation_p.A1205T|CSMD3_ENST00000455883.2_Missense_Mutation_p.A1141T|CSMD3_ENST00000352409.3_Missense_Mutation_p.A1245T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1245	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTATTCGTTGCAGATGCACCA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(3733-3735)Gca>Aca		CUB and Sushi multiple domains 3							109.0	104.0	106.0					8																	113599447		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113599447C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3733G>A	8.37:g.113599447C>T	ENSP00000297405:p.Ala1245Thr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.A1245T|CSMD3_ENST00000343508.3_Missense_Mutation_p.A1205T|CSMD3_ENST00000455883.2_Missense_Mutation_p.A1141T	p.A1245T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			23	3977	-			1245			CUB 7.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3733G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964923	0.34659	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	4.14	4.14	0.48551	Complement control module (1);CUB (5);	0.167271	0.40640	N	0.001057	T	0.19248	0.0462	N	0.20986	0.625	0.28332	N	0.921729	B;B;B	0.12013	0.005;0.002;0.001	B;B;B	0.14578	0.007;0.011;0.005	T	0.08911	-1.0699	10	0.21014	T	0.42	.	11.088	0.48099	0.0:0.8999:0.0:0.1001	.	1141;1245;1205	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	1205;1245;585;1141;1245	ENSP00000345799:A1205T;ENSP00000297405:A1245T;ENSP00000341558:A585T;ENSP00000412263:A1141T;ENSP00000343124:A1245T	ENSP00000297405:A1245T	A	-	1	0	CSMD3	113668623	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.625000	0.61262	2.303000	0.77524	0.591000	0.81541	GCA		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		5	101	0	0	0	1	0	5	101				
CSTA	1475	broad.mit.edu	37	3	122056392	122056392	+	Splice_Site	SNP	A	A	T	rs398122804		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:122056392A>T	ENST00000264474.3	+	2	115		c.e2-1		CSTA_ENST00000479204.1_Splice_Site	NM_005213.3	NP_005204.1	P01040	CYTA_HUMAN	cystatin A (stefin A)						keratinocyte differentiation (GO:0030216)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|peptide cross-linking (GO:0018149)|single organismal cell-cell adhesion (GO:0016337)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		TCTTTTCTTTAGGTTAAACCA	0.348																																					Pancreas(26;157 1503 12440)	ENST00000479204.1																			0				large_intestine(2)|lung(2)	4						c.e2-1		cystatin A (stefin A)							62.0	64.0	63.0					3																	122056392		2203	4300	6503	SO:0001630	splice_region_variant	1475				keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity	g.chr3:122056392A>T		CCDS3011.1	3q21	2008-04-15			ENSG00000121552	ENSG00000121552			2481	protein-coding gene	gene with protein product		184600		STF1, STFA		1674139	Standard	NM_005213		Approved		uc003eex.3	P01040	OTTHUMG00000159488	ENST00000264474.3:c.67-1A>T	3.37:g.122056392A>T						CSTA_ENST00000264474.3_Splice_Site				P01040	CYTA_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	2	97	+								Q6IB90	Splice_Site	SNP	ENST00000264474.3	37		CCDS3011.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.519679	0.27211	.	.	ENSG00000121552	ENST00000264474;ENST00000479204	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1556	0.42820	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CSTA	123539082	0.997000	0.39634	0.661000	0.29709	0.307000	0.27823	4.713000	0.61895	1.910000	0.55303	0.454000	0.30748	.		0.348	CSTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355751.1	NM_005213	Intron	7	343	0	0	0	1	0	7	343				
ZNF43	7594	broad.mit.edu	37	19	21991000	21991000	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:21991000T>C	ENST00000354959.4	-	4	2008	c.1839A>G	c.(1837-1839)aaA>aaG	p.K613K	ZNF43_ENST00000598381.1_Silent_p.K607K|ZNF43_ENST00000595461.1_Silent_p.K607K|ZNF43_ENST00000594012.1_Silent_p.K607K	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	613					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TATGAATTTTTTTATGTGTAG	0.338																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1819-1821)aaA>aaG		zinc finger protein 43							50.0	52.0	52.0					19																	21991000		2203	4297	6500	SO:0001819	synonymous_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991000T>C	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1839A>G	19.37:g.21991000T>C						ZNF43_ENST00000354959.4_Silent_p.K613K|ZNF43_ENST00000595461.1_Silent_p.K607K|ZNF43_ENST00000598381.1_Silent_p.K607K	p.K607K	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2335	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	613					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	c.1821A>G	CCDS12413.2																																																																																				0.338	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		3	121	0	0	0	1	0	3	121				
SLITRK1	114798	broad.mit.edu	37	13	84454064	84454064	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr13:84454064G>A	ENST00000377084.2	-	1	2464	c.1579C>T	c.(1579-1581)Cac>Tac	p.H527Y		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	527					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGGTTTCCGTGGAGGTCTATC	0.547																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1579-1581)Cac>Tac		SLIT and NTRK-like family, member 1							54.0	54.0	54.0					13																	84454064		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454064G>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1579C>T	13.37:g.84454064G>A	ENSP00000366288:p.His527Tyr						p.H527Y	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2464	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	527					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1579C>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383803	0.61845	.	.	ENSG00000178235	ENST00000377084	T	0.51817	0.69	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	N	0.25201	0.72	0.80722	D	1	B	0.22909	0.077	B	0.20955	0.032	T	0.12319	-1.0552	10	0.39692	T	0.17	-14.1358	17.693	0.88273	0.0:0.0:1.0:0.0	.	527	Q96PX8	SLIK1_HUMAN	Y	527	ENSP00000366288:H527Y	ENSP00000366288:H527Y	H	-	1	0	SLITRK1	83352065	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.872000	0.87187	2.603000	0.88011	0.655000	0.94253	CAC		0.547	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		34	6	0	0	0	1	0	34	6				
LDHC	3948	broad.mit.edu	37	11	18451282	18451282	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr11:18451282A>T	ENST00000541669.1	+	4	355		c.e4-1		LDHC_ENST00000544105.1_Splice_Site|LDHC_ENST00000536880.1_Intron|LDHC_ENST00000535809.1_Splice_Site|LDHC_ENST00000537486.1_Splice_Site|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000280704.4_Splice_Site			P07864	LDHC_HUMAN	lactate dehydrogenase C						ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTCCTTTTTAGATTACAGTG	0.383																																						ENST00000541669.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e4-1		lactate dehydrogenase C	NADH(DB00157)						61.0	53.0	56.0					11																	18451282		2199	4293	6492	SO:0001630	splice_region_variant	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18451282A>T	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.245-1A>T	11.37:g.18451282A>T						LDHC_ENST00000544105.1_Splice_Site|LDHC_ENST00000536880.1_Intron|LDHC_ENST00000535809.1_Splice_Site|LDHC_ENST00000280704.4_Splice_Site|LDHC_ENST00000537486.1_Splice_Site|LDHC_ENST00000546146.1_Intron				P07864	LDHC_HUMAN			4	355	+								D3DQY4|Q6GSG8|Q7Z7J4	Splice_Site	SNP	ENST00000541669.1	37		CCDS7840.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.748071	0.49257	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000537486;ENST00000544105;ENST00000535809	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9928	0.64378	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LDHC	18407858	1.000000	0.71417	0.773000	0.31616	0.016000	0.09150	9.087000	0.94110	1.896000	0.54893	0.454000	0.30748	.		0.383	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448	Intron	6	191	0	0	0	1	0	6	191				
EXOG	9941	broad.mit.edu	37	3	38565673	38565673	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:38565673G>T	ENST00000287675.5	+	6	1023	c.927G>T	c.(925-927)ttG>ttT	p.L309F	EXOG_ENST00000422077.2_Missense_Mutation_p.L259F|EXOG_ENST00000358249.2_Intron	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	309				L -> S (in Ref. 2; BAF82796). {ECO:0000305}.	DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						AGTTCACCTTGTACTTGAGTA	0.428																																						ENST00000287675.5																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						c.(925-927)ttG>ttT		endo/exonuclease (5'-3'), endonuclease G-like							114.0	122.0	120.0					3																	38565673		2203	4300	6503	SO:0001583	missense	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38565673G>T	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.927G>T	3.37:g.38565673G>T	ENSP00000287675:p.Leu309Phe					EXOG_ENST00000422077.2_Missense_Mutation_p.L259F|EXOG_ENST00000358249.2_Intron	p.L309F	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN			6	1023	+			309	L -> S (in Ref. 2; BAF82796).				A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	SNP	ENST00000287675.5	37	c.927G>T	CCDS2680.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292468	0.59976	.	.	ENSG00000157036	ENST00000287675;ENST00000422077	T;T	0.49432	0.78;0.83	5.54	1.74	0.24563	.	0.000000	0.64402	D	0.000005	T	0.58609	0.2134	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74674	0.984;0.957	T	0.52411	-0.8579	10	0.32370	T	0.25	-15.2137	6.9131	0.24346	0.1964:0.0:0.68:0.1236	.	259;309	Q9Y2C4-4;Q9Y2C4	.;EXOG_HUMAN	F	309;259	ENSP00000287675:L309F;ENSP00000404305:L259F	ENSP00000287675:L309F	L	+	3	2	EXOG	38540677	1.000000	0.71417	0.996000	0.52242	0.833000	0.47200	2.116000	0.41930	0.136000	0.18733	-0.768000	0.03414	TTG		0.428	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		8	488	1	0	3.09899e-07	1	3.38071e-07	8	488				
WRN	7486	broad.mit.edu	37	8	30945375	30945375	+	Silent	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr8:30945375T>A	ENST00000298139.5	+	12	1764	c.1515T>A	c.(1513-1515)acT>acA	p.T505T		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	505					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GTCTTCCTACTAaagaagaag	0.353			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1513-1515)acT>acA	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							80.0	81.0	80.0					8																	30945375		2203	4300	6503	SO:0001819	synonymous_variant	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945375T>A		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1515T>A	8.37:g.30945375T>A							p.T505T	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1764	+		Breast(100;0.195)	505					A1KYY9	Silent	SNP	ENST00000298139.5	37	c.1515T>A	CCDS6082.1																																																																																				0.353	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			6	209	0	0	0	1	0	6	209				
SYNPO2	171024	broad.mit.edu	37	4	119952245	119952245	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:119952245C>G	ENST00000429713.2	+	4	2497	c.2315C>G	c.(2314-2316)cCa>cGa	p.P772R	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.P772R|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P772R	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	772	Pro-rich.					actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCTCCCAACCAGTAACTCCA	0.557																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2314-2316)cCa>cGa		synaptopodin 2							105.0	106.0	105.0					4																	119952245		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119952245C>G	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2315C>G	4.37:g.119952245C>G	ENSP00000395143:p.Pro772Arg					SYNPO2_ENST00000434046.2_Missense_Mutation_p.P772R|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P772R	p.P772R	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			4	2511	+			772			Pro-rich.		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.2315C>G	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708813	0.48517	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.09350	2.99;3.01;3.0	5.41	5.41	0.78517	.	0.103083	0.43579	D	0.000544	T	0.19967	0.0480	L	0.41236	1.265	0.80722	D	1	D;D;D;D	0.71674	0.996;0.998;0.996;0.996	P;D;P;P	0.63381	0.823;0.914;0.823;0.823	T	0.00426	-1.1746	9	.	.	.	-16.2351	11.2146	0.48819	0.0:0.9085:0.0:0.0915	.	772;772;772;772	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	R	772	ENSP00000306015:P772R;ENSP00000395143:P772R;ENSP00000390965:P772R	.	P	+	2	0	SYNPO2	120171693	0.978000	0.34361	0.622000	0.29159	0.994000	0.84299	5.027000	0.64109	2.552000	0.86080	0.655000	0.94253	CCA		0.557	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			6	280	0	0	0	1	0	6	280				
NPY2R	4887	broad.mit.edu	37	4	156135042	156135042	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:156135042A>T	ENST00000329476.3	+	2	441		c.e2-1		NPY2R_ENST00000506608.1_Splice_Site	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	ttTTCTTTTTAGGTTGTAGAC	0.398																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.e2-1		neuropeptide Y receptor Y2							44.0	46.0	45.0					4																	156135042		2202	4298	6500	SO:0001630	splice_region_variant	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135042A>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.-48-1A>T	4.37:g.156135042A>T						NPY2R_ENST00000506608.1_Splice_Site		NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	441	+	all_hematologic(180;0.24)	Renal(120;0.0854)						Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Splice_Site	SNP	ENST00000329476.3	37		CCDS3791.1																																																																																				0.398	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910	Intron	4	109	0	0	0	1	0	4	109				
GABRG3	2567	broad.mit.edu	37	15	27777970	27777970	+	Silent	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:27777970C>T	ENST00000333743.6	+	10	1601	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	449					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGGTCTTTTTCCCCACGTCCT	0.473																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42						c.(1345-1347)ttC>ttT		gamma-aminobutyric acid (GABA) A receptor, gamma 3							72.0	73.0	72.0					15																	27777970		1960	4147	6107	SO:0001819	synonymous_variant	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27777970C>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1347C>T	15.37:g.27777970C>T						RP11-100M12.3_ENST00000556642.1_RNA	p.F449F	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	10	1601	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	449					G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	c.1347C>T	CCDS45195.1																																																																																				0.473	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			50	40	0	0	0	1	0	50	40				
XRCC5	7520	broad.mit.edu	37	2	216981499	216981499	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr2:216981499C>G	ENST00000392133.3	+	5	714	c.253C>G	c.(253-255)Cta>Gta	p.L85V	XRCC5_ENST00000392132.2_Missense_Mutation_p.L85V			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	85					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		ACATCTGATGCTACCAGATTT	0.438								Non-homologous end-joining																														ENST00000392133.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(253-255)Cta>Gta	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							171.0	152.0	159.0					2																	216981499		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216981499C>G	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.253C>G	2.37:g.216981499C>G	ENSP00000375978:p.Leu85Val					XRCC5_ENST00000392132.2_Missense_Mutation_p.L85V	p.L85V			P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	5	714	+		Renal(323;0.0328)	85					A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.253C>G	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	C	6.836	0.523513	0.13066	.	.	ENSG00000079246	ENST00000392133;ENST00000392132;ENST00000417391	T;T	0.28069	1.63;1.63	5.8	3.96	0.45880	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.239802	0.36066	N	0.002805	T	0.23649	0.0572	L	0.41415	1.275	0.46798	D	0.999202	B	0.06786	0.001	B	0.13407	0.009	T	0.05022	-1.0911	10	0.20519	T	0.43	.	11.1248	0.48310	0.0:0.8027:0.1277:0.0696	.	85	P13010	XRCC5_HUMAN	V	85;85;72	ENSP00000375978:L85V;ENSP00000375977:L85V	ENSP00000375977:L85V	L	+	1	2	XRCC5	216689744	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	2.471000	0.45127	1.464000	0.47987	-0.137000	0.14449	CTA		0.438	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		6	288	0	0	0	1	0	6	288				
GEMIN8	54960	broad.mit.edu	37	X	14038421	14038421	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chrX:14038421C>A	ENST00000380523.4	-	4	566	c.248G>T	c.(247-249)tGg>tTg	p.W83L	GEMIN8_ENST00000398355.3_Missense_Mutation_p.W83L|GEMIN8_ENST00000460203.1_5'UTR	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	83					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						GTAGTCCTGCCAGGCCACATG	0.488																																						ENST00000380523.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						c.(247-249)tGg>tTg		gem (nuclear organelle) associated protein 8							141.0	126.0	131.0					X																	14038421		2203	4300	6503	SO:0001583	missense	54960				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	g.chrX:14038421C>A	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"""family with sequence similarity 51, member A1"""	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.248G>T	X.37:g.14038421C>A	ENSP00000369895:p.Trp83Leu					GEMIN8_ENST00000398355.3_Missense_Mutation_p.W83L|GEMIN8_ENST00000460203.1_5'UTR	p.W83L	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN			4	566	-			83					C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	c.248G>T	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	c	2.299	-0.360714	0.05103	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T	0.39787	1.06;1.06	5.28	1.45	0.22620	.	1.533280	0.03118	N	0.163405	T	0.35856	0.0946	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17776	-1.0358	10	0.13853	T	0.58	.	8.6807	0.34207	0.0:0.1669:0.5092:0.324	.	83	Q9NWZ8	GEMI8_HUMAN	L	83	ENSP00000369895:W83L;ENSP00000381398:W83L	ENSP00000369894:W83L	W	-	2	0	GEMIN8	13948342	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.653000	0.24902	-0.127000	0.11661	-0.199000	0.12753	TGG		0.488	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856		183	14	1	0	1.595e-65	1	1.85226e-65	183	14				
ABCC11	85320	broad.mit.edu	37	16	48218462	48218462	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:48218462C>A	ENST00000394747.1	-	22	3496	c.3147G>T	c.(3145-3147)agG>agT	p.R1049S	ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049S|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049S|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1049	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TGATCTCCAGCCTCAATGCCA	0.483																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3145-3147)agG>agT		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							197.0	164.0	175.0					16																	48218462		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48218462C>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3147G>T	16.37:g.48218462C>A	ENSP00000378230:p.Arg1049Ser					ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049S|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049S|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049S	p.R1049S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			22	3496	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1049			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3147G>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465225	0.43839	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.57	-2.79	0.05841	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.293222	0.33938	N	0.004410	D	0.92789	0.7707	M	0.86651	2.83	0.23120	N	0.998267	B;D	0.57257	0.383;0.979	B;D	0.64506	0.151;0.926	D	0.87538	0.2457	10	0.66056	D	0.02	-14.9349	10.8349	0.46681	0.0:0.3676:0.0:0.6324	.	1049;1049	Q96J66-2;Q96J66	.;ABCCB_HUMAN	S	1049	ENSP00000311326:R1049S;ENSP00000349017:R1049S;ENSP00000378231:R1049S;ENSP00000378230:R1049S	ENSP00000311326:R1049S	R	-	3	2	ABCC11	46775963	0.005000	0.15991	0.178000	0.23040	0.224000	0.24922	-0.701000	0.05075	-0.360000	0.08138	0.563000	0.77884	AGG		0.483	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		143	207	1	0	5.90745e-37	1	6.71584e-37	143	207				
ACVR1C	130399	broad.mit.edu	37	2	158397620	158397620	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr2:158397620G>A	ENST00000243349.8	-	7	1567	c.1207C>T	c.(1207-1209)Cgg>Tgg	p.R403W	ACVR1C_ENST00000409680.3_Missense_Mutation_p.R353W|ACVR1C_ENST00000335450.7_Missense_Mutation_p.R323W|ACVR1C_ENST00000348328.5_Missense_Mutation_p.R246W	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GAACACCTCCGGGCTATTTCC	0.393																																						ENST00000243349.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1207-1209)Cgg>Tgg		activin A receptor, type IC							124.0	126.0	125.0					2																	158397620		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158397620G>A	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1207C>T	2.37:g.158397620G>A	ENSP00000243349:p.Arg403Trp					ACVR1C_ENST00000409680.3_Missense_Mutation_p.R353W|ACVR1C_ENST00000335450.7_Missense_Mutation_p.R323W|ACVR1C_ENST00000348328.5_Missense_Mutation_p.R246W	p.R403W	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN			7	1567	-			403			Protein kinase.			Missense_Mutation	SNP	ENST00000243349.8	37	c.1207C>T	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437900	0.62955	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	5.3	4.4	0.53042	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46442	D	0.000292	D	0.97093	0.9050	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.99	D;P;D	0.91635	0.999;0.815;0.909	D	0.97601	1.0123	10	0.87932	D	0	.	12.9012	0.58126	0.0:0.0:0.7047:0.2953	.	246;323;403	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	W	403;353;246;323	ENSP00000243349:R403W;ENSP00000387168:R353W;ENSP00000335139:R246W;ENSP00000335178:R323W	ENSP00000243349:R403W	R	-	1	2	ACVR1C	158105866	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	3.075000	0.50073	1.309000	0.44985	0.591000	0.81541	CGG		0.393	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		5	215	0	0	0	1	0	5	215				
U2SURP	23350	broad.mit.edu	37	3	142733221	142733221	+	Missense_Mutation	SNP	T	T	A	rs202018152		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:142733221T>A	ENST00000473835.2	+	4	381	c.291T>A	c.(289-291)agT>agA	p.S97R	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.S97R	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	97					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GAACTTTAAGTAAAAAGGAAC	0.299																																						ENST00000473835.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(289-291)agT>agA		U2 snRNP-associated SURP domain containing							51.0	48.0	49.0					3																	142733221		1814	4070	5884	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142733221T>A	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.291T>A	3.37:g.142733221T>A	ENSP00000418563:p.Ser97Arg					U2SURP_ENST00000493598.2_Missense_Mutation_p.S97R|U2SURP_ENST00000397933.2_5'UTR	p.S97R	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN			4	381	+			97					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.291T>A	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.967085	0.74131	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598;ENST00000465175	T;T	0.11385	2.78;2.78	5.5	1.53	0.23141	.	0.000000	0.85682	D	0.000000	T	0.23451	0.0567	M	0.76170	2.325	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.99	D;D;P	0.68621	0.959;0.925;0.843	T	0.05869	-1.0859	10	0.23302	T	0.38	-18.1071	6.3851	0.21556	0.0:0.5358:0.0:0.4642	.	97;97;97	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	R	97;97;97;97;67	ENSP00000418563:S97R;ENSP00000422011:S97R	ENSP00000322376:S97R	S	+	3	2	U2SURP	144215911	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.477000	0.35431	0.488000	0.27723	-0.371000	0.07208	AGT		0.299	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		4	131	0	0	0	1	0	4	131				
TYW1	55253	broad.mit.edu	37	7	66548462	66548462	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr7:66548462C>A	ENST00000359626.5	+	11	1484	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	440					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.D440E(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GGAAGATGGACCAGCCTGAAA	0.443																																						ENST00000359626.5																			1	Substitution - Missense(1)	p.D440E(1)	prostate(1)	breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(1318-1320)gaC>gaA		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							96.0	93.0	94.0					7																	66548462		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66548462C>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1320C>A	7.37:g.66548462C>A	ENSP00000352645:p.Asp440Glu						p.D440E	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			11	1484	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	440					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.1320C>A	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477772	0.84640	.	.	ENSG00000198874	ENST00000359626	D	0.90261	-2.64	4.62	4.62	0.57501	Radical SAM (1);	0.000000	0.85682	U	0.000000	D	0.95943	0.8679	M	0.89904	3.07	0.58432	D	0.999997	D	0.65815	0.995	D	0.79108	0.992	D	0.96802	0.9590	10	0.87932	D	0	.	15.333	0.74229	0.0:1.0:0.0:0.0	.	440	Q9NV66	TYW1_HUMAN	E	440	ENSP00000352645:D440E	ENSP00000352645:D440E	D	+	3	2	TYW1	66185897	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.451000	0.52964	2.273000	0.75805	0.603000	0.83216	GAC		0.443	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		5	268	1	0	0.00307968	1	0.00326084	5	268				
HPS3	84343	broad.mit.edu	37	3	148872892	148872892	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:148872892A>T	ENST00000296051.2	+	8	1540		c.e8-1		HPS3_ENST00000460120.1_Splice_Site	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3						organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTTTGCTTTTAGTTCGAGAAA	0.303									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.e8-1		Hermansky-Pudlak syndrome 3							89.0	94.0	92.0					3																	148872892		2203	4300	6503	SO:0001630	splice_region_variant	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148872892A>T	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1401-1A>T	3.37:g.148872892A>T						HPS3_ENST00000460120.1_Splice_Site		NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		8	1540	+								A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Splice_Site	SNP	ENST00000296051.2	37		CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.755131	0.69648	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1558	0.59516	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HPS3	150355582	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	3.727000	0.54984	2.092000	0.63282	0.533000	0.62120	.		0.303	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	Intron	9	284	0	0	0	1	0	9	284				
TAT	6898	broad.mit.edu	37	16	71610149	71610149	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:71610149C>T	ENST00000355962.4	-	2	303	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	57					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CACAATGGCTCGGATGGGGTT	0.502																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	ENST00000355962.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29						c.(169-171)cGa>cAa		tyrosine aminotransferase	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						143.0	115.0	124.0					16																	71610149		2198	4300	6498	SO:0001583	missense	6898				2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71610149C>T		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.170G>A	16.37:g.71610149C>T	ENSP00000348234:p.Arg57Gln					RP11-432I5.1_ENST00000561529.1_RNA	p.R57Q	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN		Kidney(780;0.0157)	2	303	-		Ovarian(137;0.125)	57					B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	c.170G>A	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	36	5.828712	0.96996	.	.	ENSG00000198650	ENST00000355962	D	0.89196	-2.48	6.01	6.01	0.97437	Tyrosine aminotransferase (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	M	0.90019	3.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.995;0.999	D	0.95818	0.8847	10	0.87932	D	0	-21.0816	20.5141	0.99211	0.0:1.0:0.0:0.0	.	57;57;57	Q8WW92;A1L4G7;P17735	.;.;ATTY_HUMAN	Q	57	ENSP00000348234:R57Q	ENSP00000348234:R57Q	R	-	2	0	TAT	70167650	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.487000	0.81328	2.850000	0.98022	0.655000	0.94253	CGA		0.502	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			41	36	0	0	0	1	0	41	36				
VTA1	51534	broad.mit.edu	37	6	142490816	142490816	+	Splice_Site	SNP	T	T	A	rs201442533		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:142490816T>A	ENST00000367630.4	+	3	393		c.e3+2		VTA1_ENST00000452973.2_Splice_Site|VTA1_ENST00000367621.1_Splice_Site	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1						endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		ATTTCACAAGTAAGTAAAGAG	0.303																																						ENST00000367630.4																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.e3+2		vesicle (multivesicular body) trafficking 1							47.0	47.0	47.0					6																	142490816		2203	4300	6503	SO:0001630	splice_region_variant	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142490816T>A	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.335+2T>A	6.37:g.142490816T>A						VTA1_ENST00000452973.2_Splice_Site|VTA1_ENST00000367621.1_Splice_Site		NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	3	393	+	Breast(32;0.155)							B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Splice_Site	SNP	ENST00000367630.4	37		CCDS5197.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.677272	0.68042	.	.	ENSG00000009844	ENST00000367630;ENST00000367621;ENST00000452973;ENST00000427932	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5608	0.68133	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	VTA1	142532509	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.491000	0.81471	1.891000	0.54761	0.533000	0.62120	.		0.303	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485	Intron	3	31	0	0	0	1	0	3	31				
MIR17HG	407975	broad.mit.edu	37	13	92003640	92003640	+	RNA	SNP	G	G	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr13:92003640G>C	ENST00000362310.2	+	0	184				MIR17HG_ENST00000385233.2_RNA|MIR17HG_ENST00000385012.1_RNA|MIR17HG_ENST00000384878.1_RNA|MIR17HG_ENST00000362279.1_RNA|MIR17HG_ENST00000384829.1_RNA	NR_029488.1		Q75NE6	MIRH1_HUMAN	miR-17-92 cluster host gene (non-protein coding)							integral component of membrane (GO:0016021)											GGCCTGTTGAGTTTGGTGGGG	0.378																																						ENST00000385233.2																			0																				167.0	134.0	144.0					13																	92003640		1568	3582	5150			407975							g.chr13:92003640G>C	AB176707		13q31.3	2014-07-18	2011-02-14	2009-07-24	ENSG00000215417	ENSG00000215417		"""-"""	23564	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 48"", ""long intergenic non-protein coding RNA 48"""	609415	"""chromosome 13 open reading frame 25"", ""microRNA host gene 1 (non-protein coding)"", ""MIR17 host gene (non-protein coding)"""	C13orf25, MIRHG1		15126345, 15944707, 16266980, 17210683, 23551855	Standard	NR_027349		Approved	FLJ14178, MIRH1, MIHG1, NCRNA00048, miR-17-92, LINC00048	uc010tie.1	Q75NE6	OTTHUMG00000017195		13.37:g.92003640G>C								NR_029508.1						0	73	+								A4QMU7|Q75NE7	RNA	SNP	ENST00000362310.2	37																																																																																						0.378	MIR17HG-202	KNOWN	basic	miRNA	processed_transcript		NR_027349		34	12	0	0	0	1	0	34	12				
ANXA3	306	broad.mit.edu	37	4	79522703	79522703	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:79522703G>T	ENST00000264908.6	+	11	1149	c.770G>T	c.(769-771)aGa>aTa	p.R257I	ANXA3_ENST00000503570.2_Missense_Mutation_p.R218I|ANXA3_ENST00000512884.1_Missense_Mutation_p.R218I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	257					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTAGCCGAAAGACTGCATCGA	0.388																																					GBM(2;126 157 27790 28920 42492)	ENST00000264908.6																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(769-771)aGa>aTa		annexin A3							131.0	122.0	125.0					4																	79522703		2203	4300	6503	SO:0001583	missense	306				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	g.chr4:79522703G>T	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.770G>T	4.37:g.79522703G>T	ENSP00000264908:p.Arg257Ile					ANXA3_ENST00000503570.2_Missense_Mutation_p.R218I|ANXA3_ENST00000512884.1_Missense_Mutation_p.R218I	p.R257I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN			11	1149	+			257					B2R9W6|Q6LET2	Missense_Mutation	SNP	ENST00000264908.6	37	c.770G>T	CCDS3584.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120043	0.56613	.	.	ENSG00000138772	ENST00000264908;ENST00000512884;ENST00000503570	T;T;T	0.03065	4.06;4.06;4.06	5.21	4.37	0.52481	.	0.104658	0.64402	D	0.000014	T	0.11067	0.0270	M	0.74647	2.275	0.58432	D	0.999999	P	0.49253	0.921	P	0.50708	0.648	T	0.00893	-1.1524	10	0.87932	D	0	.	12.562	0.56286	0.0811:0.0:0.9189:0.0	.	257	P12429	ANXA3_HUMAN	I	257;218;218	ENSP00000264908:R257I;ENSP00000423068:R218I;ENSP00000421015:R218I	ENSP00000264908:R257I	R	+	2	0	ANXA3	79741727	0.998000	0.40836	0.945000	0.38365	0.482000	0.33219	1.372000	0.34261	1.420000	0.47138	0.585000	0.79938	AGA		0.388	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		161	241	1	0	2.08959e-108	1	2.453e-108	161	241				
RBMX2	51634	broad.mit.edu	37	X	129545472	129545472	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chrX:129545472G>A	ENST00000305536.6	+	5	518	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	152							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						CTCTGAAGATGAAAAACCAAC	0.428																																						ENST00000305536.6																			0				breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(454-456)Gaa>Aaa		RNA binding motif protein, X-linked 2							75.0	64.0	68.0					X																	129545472		1846	4081	5927	SO:0001583	missense	51634						nucleotide binding|RNA binding	g.chrX:129545472G>A	AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.454G>A	X.37:g.129545472G>A	ENSP00000339090:p.Glu152Lys					RBMX2_ENST00000469953.1_3'UTR	p.E152K	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN			5	518	+			152					A8K9Z0|Q5JY82|Q9Y3I8	Missense_Mutation	SNP	ENST00000305536.6	37	c.454G>A	CCDS43993.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839467	0.51057	.	.	ENSG00000134597	ENST00000305536;ENST00000538614	T	0.15256	2.44	5.26	5.26	0.73747	.	0.663875	0.15598	N	0.254065	T	0.13329	0.0323	L	0.29908	0.895	0.80722	D	1	B	0.28128	0.201	B	0.16722	0.016	T	0.12218	-1.0556	10	0.19590	T	0.45	.	15.4681	0.75419	0.0:0.0:1.0:0.0	.	152	Q9Y388	RBMX2_HUMAN	K	152	ENSP00000339090:E152K	ENSP00000339090:E152K	E	+	1	0	RBMX2	129373153	0.925000	0.31364	0.829000	0.32907	0.822000	0.46500	4.101000	0.57769	2.334000	0.79466	0.600000	0.82982	GAA		0.428	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	NM_016024		4	130	0	0	0	1	0	4	130				
CENPE	1062	broad.mit.edu	37	4	104098109	104098109	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:104098109A>T	ENST00000265148.3	-	14	1426	c.1337T>A	c.(1336-1338)aTa>aAa	p.I446K	CENPE_ENST00000380026.3_Missense_Mutation_p.I446K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	446					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTTGTTGTTATATTTGTTGG	0.289																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(1336-1338)aTa>aAa		centromere protein E, 312kDa							90.0	86.0	88.0					4																	104098109		2200	4285	6485	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104098109A>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1337T>A	4.37:g.104098109A>T	ENSP00000265148:p.Ile446Lys					CENPE_ENST00000380026.3_Missense_Mutation_p.I446K	p.I446K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	14	1426	-			446					A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.1337T>A	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.379751	0.42207	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.55413	0.52;0.52;0.52	5.4	5.4	0.78164	.	.	.	.	.	T	0.48447	0.1500	L	0.44542	1.39	0.20975	N	0.999815	P;P	0.45283	0.828;0.855	P;B	0.45232	0.474;0.188	T	0.44817	-0.9303	9	0.46703	T	0.11	.	8.4756	0.33012	0.8779:0.0:0.1221:0.0	.	446;446	Q02224-3;Q02224	.;CENPE_HUMAN	K	446	ENSP00000265148:I446K;ENSP00000369365:I446K;ENSP00000423981:I446K	ENSP00000265148:I446K	I	-	2	0	CENPE	104317558	0.016000	0.18221	0.722000	0.30670	0.124000	0.20399	2.148000	0.42235	2.035000	0.60131	0.533000	0.62120	ATA		0.289	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	100	0	0	0	1	0	6	100				
PLSCR2	57047	broad.mit.edu	37	3	146171870	146171870	+	Silent	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:146171870A>T	ENST00000497985.1	-	7	1060	c.621T>A	c.(619-621)atT>atA	p.I207I	PLSCR2_ENST00000336685.2_Silent_p.I134I	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	207					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TCTGATTTTTAATTGTAAACT	0.378																																						ENST00000497985.1																			0				endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						c.(619-621)atT>atA		phospholipid scramblase 2							112.0	112.0	112.0					3																	146171870		2203	4300	6503	SO:0001819	synonymous_variant	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146171870A>T		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.621T>A	3.37:g.146171870A>T						PLSCR2_ENST00000336685.2_Silent_p.I134I	p.I207I	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN			7	1060	-			134					B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Silent	SNP	ENST00000497985.1	37	c.621T>A	CCDS56284.1																																																																																				0.378	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		4	114	0	0	0	1	0	4	114				
CCDC89	220388	broad.mit.edu	37	11	85396537	85396537	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr11:85396537C>G	ENST00000316398.3	-	1	783	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	CREBZF_ENST00000534224.1_5'Flank|CREBZF_ENST00000531515.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	213						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTCTGTAGCTCCAGCAGCTCC	0.637																																						ENST00000316398.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(637-639)Gag>Cag		coiled-coil domain containing 89							85.0	85.0	85.0					11																	85396537		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396537C>G	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.637G>C	11.37:g.85396537C>G	ENSP00000320649:p.Glu213Gln						p.E213Q	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN			1	783	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	213						Missense_Mutation	SNP	ENST00000316398.3	37	c.637G>C	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467395	0.63625	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.8	5.8	0.92144	.	0.744519	0.12926	N	0.427790	T	0.75376	0.3841	L	0.59436	1.845	0.38901	D	0.957326	D	0.61080	0.989	P	0.58266	0.836	T	0.72769	-0.4193	8	.	.	.	-2.2724	20.0609	0.97674	0.0:1.0:0.0:0.0	.	213	Q8N998	CCD89_HUMAN	Q	213	.	.	E	-	1	0	CCDC89	85074185	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.279000	0.58953	2.755000	0.94549	0.655000	0.94253	GAG		0.637	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		6	164	0	0	0	1	0	6	164				
TAS2R3	50831	broad.mit.edu	37	7	141464711	141464711	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr7:141464711A>T	ENST00000247879.2	+	1	815	c.753A>T	c.(751-753)ttA>ttT	p.L251F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	251					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttgctttcttAATTGCATCAT	0.408																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(751-753)ttA>ttT		taste receptor, type 2, member 3							100.0	92.0	95.0					7																	141464711		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464711A>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.753A>T	7.37:g.141464711A>T	ENSP00000247879:p.Leu251Phe					SSBP1_ENST00000465582.1_Intron	p.L251F	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN			1	815	+	Melanoma(164;0.0171)		251					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.753A>T	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542307	0.27563	.	.	ENSG00000127362	ENST00000247879	T	0.41758	0.99	5.41	-5.76	0.02376	.	1.317490	0.05404	N	0.541237	T	0.24624	0.0597	L	0.31157	0.91	0.09310	N	1	B	0.17465	0.022	B	0.17433	0.018	T	0.34950	-0.9808	10	0.72032	D	0.01	.	1.1254	0.01734	0.3389:0.3138:0.1416:0.2056	.	251	Q9NYW6	TA2R3_HUMAN	F	251	ENSP00000247879:L251F	ENSP00000247879:L251F	L	+	3	2	TAS2R3	141111180	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.547000	0.06055	-0.464000	0.06963	-0.472000	0.04984	TTA		0.408	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			8	412	0	0	0	1	0	8	412				
GMEB1	10691	broad.mit.edu	37	1	29019452	29019452	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr1:29019452A>T	ENST00000294409.2	+	5	456		c.e5-1		GMEB1_ENST00000373816.1_Splice_Site|GMEB1_ENST00000361872.4_Splice_Site|GMEB1_ENST00000480454.1_Splice_Site	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1						transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTACTTTTAGTTCAATGAT	0.403																																						ENST00000373816.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11						c.e5-1		glucocorticoid modulatory element binding protein 1							110.0	101.0	104.0					1																	29019452		2203	4300	6503	SO:0001630	splice_region_variant	10691				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	g.chr1:29019452A>T	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.367-1A>T	1.37:g.29019452A>T						GMEB1_ENST00000480454.1_Splice_Site|GMEB1_ENST00000294409.2_Splice_Site|GMEB1_ENST00000361872.4_Splice_Site		NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	5	474	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)						B1AT48|Q9NWH1|Q9UKD0	Splice_Site	SNP	ENST00000294409.2	37		CCDS327.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.528904	0.85706	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5272	0.75919	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GMEB1	28892039	1.000000	0.71417	0.996000	0.52242	0.912000	0.54170	7.283000	0.78640	2.311000	0.77944	0.533000	0.62120	.		0.403	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	NM_006582	Intron	4	90	0	0	0	1	0	4	90				
ECD	11319	broad.mit.edu	37	10	74920195	74920195	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr10:74920195G>C	ENST00000372979.4	-	3	526	c.320C>G	c.(319-321)gCa>gGa	p.A107G	ECD_ENST00000430082.2_Missense_Mutation_p.A107G|ECD_ENST00000454759.2_Missense_Mutation_p.A107G|ECD_ENST00000610256.1_5'UTR	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	107					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					ACAATACCTTGCTACTAACTC	0.294																																						ENST00000372979.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(319-321)gCa>gGa		ecdysoneless homolog (Drosophila)							67.0	66.0	66.0					10																	74920195		2203	4300	6503	SO:0001583	missense	11319				regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	g.chr10:74920195G>C	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.320C>G	10.37:g.74920195G>C	ENSP00000362070:p.Ala107Gly					ECD_ENST00000430082.1_Missense_Mutation_p.A107G|ECD_ENST00000454759.1_Missense_Mutation_p.A107G	p.A107G	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN			3	526	-	Prostate(51;0.0119)		107					C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	37	c.320C>G	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085848	0.55861	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759;ENST00000453402;ENST00000413026	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	4.91	4.91	0.64330	.	0.048259	0.85682	D	0.000000	T	0.33089	0.0851	M	0.77712	2.385	0.80722	D	1	B;B;P	0.35628	0.315;0.325;0.513	B;B;B	0.41466	0.255;0.2;0.358	T	0.14980	-1.0453	10	0.54805	T	0.06	.	13.9531	0.64131	0.0:0.0:1.0:0.0	.	107;107;107	E9PAW8;C9JX46;O95905	.;.;SGT1_HUMAN	G	107;107;107;33;107	ENSP00000362070:A107G;ENSP00000401566:A107G;ENSP00000395786:A107G;ENSP00000391367:A33G;ENSP00000416288:A107G	ENSP00000362070:A107G	A	-	2	0	ECD	74590201	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.000000	0.63940	2.432000	0.82394	0.655000	0.94253	GCA		0.294	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		3	50	0	0	0	1	0	3	50				
FIG4	9896	broad.mit.edu	37	6	110087930	110087930	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:110087930A>T	ENST00000230124.3	+	15	1707		c.e15-1		FIG4_ENST00000441478.2_Splice_Site	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase						cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TTCTTTTTTTAGGTTATTTGA	0.343																																						ENST00000230124.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32						c.e15-1		FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)							118.0	113.0	115.0					6																	110087930		2203	4300	6503	SO:0001630	splice_region_variant	9896				cell death	endosome membrane	protein binding	g.chr6:110087930A>T	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1584-1A>T	6.37:g.110087930A>T						FIG4_ENST00000441478.2_Splice_Site		NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	15	1707	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)						Q53H49|Q5TCS6	Splice_Site	SNP	ENST00000230124.3	37		CCDS5078.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.860648	0.71834	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6434	0.77025	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FIG4	110194623	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.561000	0.90715	2.099000	0.63709	0.454000	0.30748	.		0.343	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845	Intron	6	144	0	0	0	1	0	6	144				
ZNF79	7633	broad.mit.edu	37	9	130207131	130207131	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:130207131T>C	ENST00000342483.5	+	5	1558	c.1152T>C	c.(1150-1152)acT>acC	p.T384T	ZNF79_ENST00000543471.1_Silent_p.T360T|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	384					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)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GGACTCACACTGGGGAGAAAC	0.547																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(1150-1152)acT>acC		zinc finger protein 79							74.0	71.0	72.0					9																	130207131		2203	4300	6503	SO:0001819	synonymous_variant	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130207131T>C	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1152T>C	9.37:g.130207131T>C						ZNF79_ENST00000543471.1_Silent_p.T360T	p.T384T	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1558	+			384					Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	c.1152T>C	CCDS6871.1																																																																																				0.547	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		8	267	0	0	0	1	0	8	267				
RAPGEF6	51735	broad.mit.edu	37	5	130897742	130897742	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr5:130897742T>A	ENST00000509018.1	-	5	487		c.e5-2		RAPGEF6_ENST00000296859.6_Splice_Site|RAPGEF6_ENST00000510071.1_Splice_Site|RAPGEF6_ENST00000503398.2_Intron|RAPGEF6_ENST00000307984.5_Splice_Site|CTC-432M15.3_ENST00000514667.1_Splice_Site|RAPGEF6_ENST00000308008.6_Splice_Site|RAPGEF6_ENST00000507093.1_Splice_Site	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6						positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTACCAAAACTATAAAAACAG	0.284																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.e5-2		Rap guanine nucleotide exchange factor (GEF) 6							97.0	100.0	99.0					5																	130897742		2203	4295	6498	SO:0001630	splice_region_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130897742T>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.282-2A>T	5.37:g.130897742T>A						RAPGEF6_ENST00000507093.1_Splice_Site|RAPGEF6_ENST00000510071.1_Splice_Site|RAPGEF6_ENST00000296859.6_Splice_Site|RAPGEF6_ENST00000308008.6_Splice_Site|RAPGEF6_ENST00000503398.2_Intron|FNIP1_ENST00000514667.1_Splice_Site|RAPGEF6_ENST00000307984.5_Splice_Site		NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	5	487	-								A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Splice_Site	SNP	ENST00000509018.1	37		CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425029	0.83667	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000514667	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9416	0.64059	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAPGEF6;FNIP1	130925641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.925000	0.70062	2.278000	0.76064	0.533000	0.62120	.		0.284	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340	Intron	5	228	0	0	0	1	0	5	228				
KIF5A	3798	broad.mit.edu	37	12	57972099	57972099	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr12:57972099G>A	ENST00000455537.2	+	23	2786	c.2512G>A	c.(2512-2514)Gaa>Aaa	p.E838K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E749K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	838					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GAACAACCTGGAACAGCTTAC	0.473																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2512-2514)Gaa>Aaa		kinesin family member 5A							68.0	67.0	67.0					12																	57972099		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57972099G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2512G>A	12.37:g.57972099G>A	ENSP00000408979:p.Glu838Lys					KIF5A_ENST00000286452.5_Missense_Mutation_p.E749K	p.E838K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			23	2786	+			838					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.2512G>A	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631553	0.87660	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.86432	-2.12;-2.12	5.15	4.26	0.50523	.	0.246896	0.39544	N	0.001323	D	0.90724	0.7089	M	0.82323	2.585	0.41650	D	0.989126	P;P	0.41524	0.753;0.753	P;P	0.48400	0.576;0.489	D	0.91661	0.5342	10	0.52906	T	0.07	.	14.4704	0.67512	0.0:0.0:0.8515:0.1485	.	749;838	B7Z2M7;Q12840	.;KIF5A_HUMAN	K	838;749	ENSP00000408979:E838K;ENSP00000286452:E749K	ENSP00000286452:E749K	E	+	1	0	KIF5A	56258366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.802000	0.85969	1.551000	0.49450	0.558000	0.71614	GAA		0.473	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		347	397	0	0	0	1	0	347	397				
RPS9	6203	broad.mit.edu	37	19	54710275	54710275	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:54710275G>T	ENST00000302907.4	+	4	524	c.352G>T	c.(352-354)Ggc>Tgc	p.G118C	RPS9_ENST00000441429.1_Missense_Mutation_p.G118C|RPS9_ENST00000391751.3_Intron|RPS9_ENST00000402367.1_Missense_Mutation_p.G118C|RPS9_ENST00000391753.2_Missense_Mutation_p.G118C|RPS9_ENST00000391752.1_Missense_Mutation_p.G118C	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	118	S4 RNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00182}.				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)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|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)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		CTTCAAGCTGGGCTTGGCCAA	0.582																																						ENST00000402367.1																			0				NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20						c.(352-354)Ggc>Tgc		ribosomal protein S9							43.0	46.0	45.0					19																	54710275		2203	4300	6503	SO:0001583	missense	6203				endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity	g.chr19:54710275G>T	U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"""S ribosomal proteins"""	10442	protein-coding gene	gene with protein product	"""40S ribosomal protein S9"""	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.352G>T	19.37:g.54710275G>T	ENSP00000302896:p.Gly118Cys					RPS9_ENST00000302907.4_Missense_Mutation_p.G118C|RPS9_ENST00000391751.3_Intron|RPS9_ENST00000441429.1_Missense_Mutation_p.G118C|RPS9_ENST00000391752.1_Missense_Mutation_p.G118C|RPS9_ENST00000391753.2_Missense_Mutation_p.G118C	p.G118C			P46781	RS9_HUMAN		GBM - Glioblastoma multiforme(193;0.18)	4	467	+	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		118			S4 RNA-binding.		A9C4C1|Q4QRK7|Q9BVZ0	Missense_Mutation	SNP	ENST00000302907.4	37	c.352G>T	CCDS12884.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820189	0.90873	.	.	ENSG00000170889	ENST00000302907;ENST00000391752;ENST00000402367;ENST00000391753;ENST00000441429	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	4.7	4.7	0.59300	Ribosomal protein S4, conserved site (1);RNA-binding S4 (4);	0.152726	0.64402	D	0.000018	D	0.85626	0.5740	H	0.98918	4.37	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.998	D	0.91380	0.5126	10	0.87932	D	0	-11.3973	15.9326	0.79675	0.0:0.0:1.0:0.0	.	118;118;118	B5MCT8;C9JM19;P46781	.;.;RS9_HUMAN	C	118	ENSP00000302896:G118C;ENSP00000375632:G118C;ENSP00000383937:G118C;ENSP00000375633:G118C;ENSP00000414314:G118C	ENSP00000302896:G118C	G	+	1	0	RPS9	59402087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.938000	0.92943	2.539000	0.85634	0.655000	0.94253	GGC		0.582	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142834.3	NM_001013		3	58	1	0	0.004672	1	0.0048988	3	58				
TARS	6897	broad.mit.edu	37	5	33467663	33467663	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr5:33467663A>T	ENST00000265112.3	+	19	2334		c.e19-1		TARS_ENST00000414361.2_Splice_Site|TARS_ENST00000502553.1_Splice_Site|TARS_ENST00000541634.1_Splice_Site|TARS_ENST00000455217.2_Splice_Site	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase						gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGTTTGTTTTAGTTGTTGGTG	0.408																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.e19-1		threonyl-tRNA synthetase	L-Threonine(DB00156)						59.0	53.0	55.0					5																	33467663		2203	4300	6503	SO:0001630	splice_region_variant	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33467663A>T	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.2024-1A>T	5.37:g.33467663A>T						TARS_ENST00000455217.2_Splice_Site|TARS_ENST00000541634.1_Splice_Site|TARS_ENST00000502553.1_Splice_Site|TARS_ENST00000414361.2_Splice_Site		NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			19	2334	+								A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Splice_Site	SNP	ENST00000265112.3	37		CCDS3899.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268659	0.80469	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6393	0.76984	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TARS	33503420	1.000000	0.71417	0.991000	0.47740	0.930000	0.56654	9.211000	0.95120	2.091000	0.63221	0.455000	0.32223	.		0.408	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295	Intron	5	118	0	0	0	1	0	5	118				
DIDO1	11083	broad.mit.edu	37	20	61526240	61526240	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr20:61526240G>C	ENST00000266070.4	-	10	2683	c.2358C>G	c.(2356-2358)caC>caG	p.H786Q	DIDO1_ENST00000395343.1_Missense_Mutation_p.H786Q|DIDO1_ENST00000395335.2_Missense_Mutation_p.H786Q|DIDO1_ENST00000395340.1_Missense_Mutation_p.H786Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	786	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCTTTCATTGTGCAGTTTAG	0.498																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(2356-2358)caC>caG		death inducer-obliterator 1							77.0	86.0	83.0					20																	61526240		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61526240G>C	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2358C>G	20.37:g.61526240G>C	ENSP00000266070:p.His786Gln					DIDO1_ENST00000395335.2_Missense_Mutation_p.H786Q|DIDO1_ENST00000395340.1_Missense_Mutation_p.H786Q|DIDO1_ENST00000395343.1_Missense_Mutation_p.H786Q	p.H786Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			10	2683	-	Breast(26;5.68e-08)		786			TFIIS central.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.2358C>G	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886916	0.33348	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.10763	3.18;3.18;2.84;2.84	5.63	-11.3	0.00108	Transcription elongation factor S-II, central domain (1);	0.401287	0.18491	N	0.139628	T	0.02230	0.0069	N	0.03154	-0.405	0.09310	N	1	B;B	0.23806	0.091;0.011	B;B	0.19666	0.026;0.005	T	0.23655	-1.0182	10	0.16420	T	0.52	-10.4249	4.5157	0.11934	0.4523:0.3193:0.1466:0.0818	.	786;786	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	Q	786	ENSP00000266070:H786Q;ENSP00000378752:H786Q;ENSP00000378749:H786Q;ENSP00000378744:H786Q	ENSP00000266070:H786Q	H	-	3	2	DIDO1	60996685	0.000000	0.05858	0.000000	0.03702	0.448000	0.32197	-2.046000	0.01409	-1.829000	0.01201	0.561000	0.74099	CAC		0.498	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		11	112	0	0	0	1	0	11	112				
RPAP1	26015	broad.mit.edu	37	15	41815528	41815528	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:41815528G>T	ENST00000304330.4	-	18	2577	c.2461C>A	c.(2461-2463)Ctc>Atc	p.L821I	RPAP1_ENST00000561603.1_Missense_Mutation_p.L821I	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	821						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.L821I(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATGTCCTGGAGCCAATCCTCC	0.577																																						ENST00000304330.4																			1	Substitution - Missense(1)	p.L821I(1)	kidney(1)	NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(2461-2463)Ctc>Atc		RNA polymerase II associated protein 1							37.0	39.0	38.0					15																	41815528		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41815528G>T	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2461C>A	15.37:g.41815528G>T	ENSP00000306123:p.Leu821Ile					RPAP1_ENST00000561603.1_Missense_Mutation_p.L821I	p.L821I	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	18	2577	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	821					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.2461C>A	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525485	0.64860	.	.	ENSG00000103932	ENST00000304330	T	0.67345	-0.26	5.7	5.7	0.88788	.	0.218096	0.37577	N	0.002036	T	0.77805	0.4185	M	0.66939	2.045	0.36757	D	0.88309	D	0.89917	1.0	D	0.71184	0.972	T	0.82629	-0.0363	10	0.87932	D	0	-13.6196	10.1363	0.42708	0.0942:0.0:0.9058:0.0	.	821	Q9BWH6	RPAP1_HUMAN	I	821	ENSP00000306123:L821I	ENSP00000306123:L821I	L	-	1	0	RPAP1	39602820	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	4.664000	0.61540	2.679000	0.91253	0.655000	0.94253	CTC		0.577	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		4	26	1	0	1.024e-07	1	1.12849e-07	4	26				
RSPH3	83861	broad.mit.edu	37	6	159420497	159420497	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:159420497C>T	ENST00000252655.1	-	1	701	c.512G>A	c.(511-513)cGc>cAc	p.R171H	RSPH3_ENST00000449822.1_Missense_Mutation_p.R29H|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RSPH3_ENST00000367069.2_Missense_Mutation_p.R29H|RP1-111C20.4_ENST00000607796.1_RNA|RSPH3_ENST00000297262.3_Missense_Mutation_p.R171H	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	171										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GTAACGGCTGCGCTGGCAGGG	0.687																																						ENST00000367069.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23						c.(85-87)cGc>cAc		radial spoke 3 homolog (Chlamydomonas)							33.0	37.0	36.0					6																	159420497		1958	3987	5945	SO:0001583	missense	83861							g.chr6:159420497C>T	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.512G>A	6.37:g.159420497C>T	ENSP00000252655:p.Arg171His					RSPH3_ENST00000252655.1_Missense_Mutation_p.R171H|RSPH3_ENST00000297262.3_Missense_Mutation_p.R171H|RSPH3_ENST00000449822.1_Missense_Mutation_p.R29H|RP1-111C20.4_ENST00000607391.1_RNA	p.R29H			Q86UC2	RSPH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	1	722	-		Breast(66;0.00519)|Ovarian(120;0.123)	171					Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	c.86G>A	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250218	0.95305	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.22134	2.07;1.97;2.14;2.06	5.25	5.25	0.73442	.	0.120206	0.64402	D	0.000018	T	0.24122	0.0584	L	0.34521	1.04	0.28250	N	0.925305	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.973	T	0.04017	-1.0984	10	0.87932	D	0	-25.034	14.3307	0.66553	0.0:1.0:0.0:0.0	.	171;171	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	H	29;29;171;171	ENSP00000356036:R29H;ENSP00000393195:R29H;ENSP00000252655:R171H;ENSP00000297262:R171H	ENSP00000252655:R171H	R	-	2	0	RSPH3	159340485	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.733000	0.55029	2.448000	0.82819	0.563000	0.77884	CGC		0.687	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		6	16	0	0	0	1	0	6	16				
CNTNAP2	26047	broad.mit.edu	37	7	146829568	146829568	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr7:146829568C>A	ENST00000361727.3	+	8	1831	c.1315C>A	c.(1315-1317)Cag>Aag	p.Q439K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	439	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.Q439K(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAACATCACACAGACCAAGAT	0.423										HNSCC(39;0.1)																												ENST00000361727.3																			1	Substitution - Missense(1)	p.Q439K(1)	lung(1)	NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1315-1317)Cag>Aag		contactin associated protein-like 2							125.0	105.0	112.0					7																	146829568		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829568C>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1315C>A	7.37:g.146829568C>A	ENSP00000354778:p.Gln439Lys	HNSCC(39;0.1)					p.Q439K	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1831	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	439			Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1315C>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	1.550	-0.539453	0.04053	.	.	ENSG00000174469	ENST00000361727	T	0.78707	-1.2	5.7	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.320352	0.23230	N	0.050470	T	0.53351	0.1791	N	0.10874	0.06	0.18873	N	0.999988	B	0.12013	0.005	B	0.18263	0.021	T	0.38824	-0.9643	10	0.02654	T	1	.	9.1632	0.37035	0.1499:0.7631:0.0:0.087	.	439	Q9UHC6	CNTP2_HUMAN	K	439	ENSP00000354778:Q439K	ENSP00000354778:Q439K	Q	+	1	0	CNTNAP2	146460501	0.932000	0.31603	0.968000	0.41197	0.977000	0.68977	2.276000	0.43408	2.686000	0.91538	0.591000	0.81541	CAG		0.423	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			6	220	1	0	0.0293803	1	0.0302198	6	220				
KATNA1	11104	broad.mit.edu	37	6	149944257	149944257	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:149944257A>T	ENST00000335647.5	-	3	527	c.483T>A	c.(481-483)aaT>aaA	p.N161K	KATNA1_ENST00000335643.8_Missense_Mutation_p.N161K|KATNA1_ENST00000494504.1_5'Flank|KATNA1_ENST00000367411.2_Missense_Mutation_p.N161K					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		CTCTTCCTTTATTCTGTTCTT	0.323																																						ENST00000367411.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(481-483)aaT>aaA		katanin p60 (ATPase containing) subunit A 1							130.0	109.0	116.0					6																	149944257		2203	4300	6503	SO:0001583	missense	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149944257A>T	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.483T>A	6.37:g.149944257A>T	ENSP00000335106:p.Asn161Lys					KATNA1_ENST00000335647.5_Missense_Mutation_p.N161K|KATNA1_ENST00000335643.8_Missense_Mutation_p.N161K	p.N161K	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	4	741	-		Ovarian(120;0.0164)	161			Interaction with microtubule.			Missense_Mutation	SNP	ENST00000335647.5	37	c.483T>A	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.518401	0.27211	.	.	ENSG00000186625	ENST00000335647;ENST00000335643;ENST00000367411;ENST00000444282;ENST00000420200	D;D;D;D	0.95342	-3.27;-3.37;-3.27;-3.68	5.88	3.42	0.39159	.	1.071620	0.06966	N	0.817219	T	0.71256	0.3318	N	0.01874	-0.695	0.34204	D	0.67354	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.49466	-0.8937	9	.	.	.	.	8.1869	0.31343	0.8146:0.0:0.0659:0.1195	.	161;161;161	A8K7S5;O75449-2;O75449	.;.;KTNA1_HUMAN	K	161	ENSP00000335106:N161K;ENSP00000335180:N161K;ENSP00000356381:N161K;ENSP00000390322:N161K	.	N	-	3	2	KATNA1	149985950	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	1.407000	0.34657	1.019000	0.39547	0.482000	0.46254	AAT		0.323	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044		4	100	0	0	0	1	0	4	100				
F5	2153	broad.mit.edu	37	1	169487716	169487716	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr1:169487716T>C	ENST00000367797.3	-	23	6480	c.6279A>G	c.(6277-6279)ggA>ggG	p.G2093G	F5_ENST00000367796.3_Silent_p.G2098G	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2093	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCCAGTAATCTCCCCACCAAG	0.463																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(6292-6294)ggA>ggG		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						149.0	147.0	148.0					1																	169487716		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169487716T>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6279A>G	1.37:g.169487716T>C						F5_ENST00000367797.3_Silent_p.G2093G	p.G2098G			P12259	FA5_HUMAN			23	6495	-	all_hematologic(923;0.208)		2093			F5/8 type C 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.6294A>G	CCDS1281.1																																																																																				0.463	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		3	101	0	0	0	1	0	3	101				
DENND6A	201627	broad.mit.edu	37	3	57644909	57644909	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:57644909T>A	ENST00000311128.5	-	8	770		c.e8-2			NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A						positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AATCCGTACCTAAAAGAAAGA	0.403																																						ENST00000311128.5																			0											c.e8-2		DENN/MADD domain containing 6A							146.0	139.0	142.0					3																	57644909		2203	4300	6503	SO:0001630	splice_region_variant	201627							g.chr3:57644909T>A	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.700-2A>T	3.37:g.57644909T>A								NM_152678.2	NP_689891.1					8	770	-								Q7Z5T4|Q8N235|Q8TEG8	Splice_Site	SNP	ENST00000311128.5	37		CCDS33773.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500571	0.64298	.	.	ENSG00000174839	ENST00000311128	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0684	0.80907	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM116A	57619949	1.000000	0.71417	0.993000	0.49108	0.660000	0.38997	5.985000	0.70556	2.272000	0.75746	0.460000	0.39030	.		0.403	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678	Intron	7	297	0	0	0	1	0	7	297				
NUTM1	256646	broad.mit.edu	37	15	34642995	34642995	+	Silent	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:34642995C>T	ENST00000333756.4	+	3	971	c.816C>T	c.(814-816)agC>agT	p.S272S	NUTM1_ENST00000438749.3_Silent_p.S290S|NUTM1_ENST00000537011.1_Silent_p.S300S	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	272						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGCACACCAGCAACTTTGACC	0.567																																						ENST00000537011.1																			0											c.(898-900)agC>agT		NUT midline carcinoma, family member 1							95.0	76.0	83.0					15																	34642995		2201	4298	6499	SO:0001819	synonymous_variant	256646							g.chr15:34642995C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.816C>T	15.37:g.34642995C>T						NUTM1_ENST00000438749.3_Silent_p.S290S|NUTM1_ENST00000333756.4_Silent_p.S272S	p.S300S							4	1282	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.900C>T	CCDS32190.1																																																																																				0.567	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		3	82	0	0	0	1	0	3	82				
ZMYM6	9204	broad.mit.edu	37	1	35476132	35476132	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr1:35476132C>A	ENST00000357182.4	-	10	1635	c.1408G>T	c.(1408-1410)Gca>Tca	p.A470S	ZMYM6_ENST00000487874.1_Missense_Mutation_p.A470S|ZMYM6_ENST00000373340.2_Missense_Mutation_p.A470S|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	470					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TCACACATTGCCACAACTTTA	0.378																																						ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(1408-1410)Gca>Tca		zinc finger, MYM-type 6							145.0	138.0	141.0					1																	35476132		2203	4300	6503	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35476132C>A	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1408G>T	1.37:g.35476132C>A	ENSP00000349708:p.Ala470Ser					ZMYM6_ENST00000373340.2_Missense_Mutation_p.A470S|ZMYM6_ENST00000487874.1_Missense_Mutation_p.A470S|ZMYM6_ENST00000493328.1_5'UTR	p.A470S	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN			10	1635	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	470					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.1408G>T	CCDS387.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186303	0.78789	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.22743	1.94;3.11	5.24	5.24	0.73138	Zinc finger, MYM-type (1);	0.297370	0.36338	N	0.002658	T	0.38295	0.1035	L	0.43923	1.385	0.45046	D	0.998061	D;D;D	0.71674	0.994;0.998;0.997	D;D;D	0.75484	0.926;0.986;0.939	T	0.01108	-1.1449	10	0.21014	T	0.42	-4.7555	18.3537	0.90348	0.0:1.0:0.0:0.0	.	373;470;470	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	S	470	ENSP00000362437:A470S;ENSP00000349708:A470S	ENSP00000349708:A470S	A	-	1	0	ZMYM6	35248719	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	2.729000	0.47327	2.890000	0.99128	0.650000	0.86243	GCA		0.378	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		6	105	1	0	0.217242	1	0.219273	6	105				
PSAP	5660	broad.mit.edu	37	10	73587898	73587898	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr10:73587898C>A	ENST00000394936.3	-	6	740	c.593G>T	c.(592-594)tGc>tTc	p.C198F	PSAP_ENST00000394934.1_Missense_Mutation_p.C198F			P07602	SAP_HUMAN	prosaposin	198	Saposin B-type 2. {ECO:0000255|PROSITE- ProRule:PRU00415}.				blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GCAGTCCTGGCAAACGTCCCC	0.488																																						ENST00000394936.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(592-594)tGc>tTc		prosaposin							175.0	136.0	149.0					10																	73587898		2203	4300	6503	SO:0001583	missense	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73587898C>A	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.593G>T	10.37:g.73587898C>A	ENSP00000378394:p.Cys198Phe					PSAP_ENST00000394934.1_Missense_Mutation_p.C198F	p.C198F			P07602	SAP_HUMAN			6	740	-			198			Saposin B-type 2.		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.593G>T	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512628	0.85389	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	D;D	0.99998	-12.46;-12.46	5.6	5.6	0.85130	Saposin-like (2);Saposin-like type B, 1 (1);Saposin B (2);	0.092737	0.85682	D	0.000000	D	0.99988	0.9998	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98505	1.0616	10	0.87932	D	0	-8.9586	19.597	0.95544	0.0:1.0:0.0:0.0	.	198	P07602	SAP_HUMAN	F	198;198;198;198;201;123	ENSP00000378394:C198F;ENSP00000378392:C198F	ENSP00000350063:C198F	C	-	2	0	PSAP	73257904	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	7.058000	0.76676	2.802000	0.96397	0.542000	0.68232	TGC		0.488	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		9	241	1	0	0.00621372	1	0.00645271	9	241				
NKTR	4820	broad.mit.edu	37	3	42680994	42680994	+	Silent	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:42680994T>A	ENST00000232978.8	+	13	3986	c.3798T>A	c.(3796-3798)atT>atA	p.I1266I	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1266					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)		GAATAGAAATTAAAAGCAAAA	0.443																																						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.(3796-3798)atT>atA		natural killer-tumor recognition sequence							82.0	88.0	86.0					3																	42680994		2203	4300	6503	SO:0001819	synonymous_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680994T>A		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.3798T>A	3.37:g.42680994T>A						RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.I1266I	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3986	+			1266						Silent	SNP	ENST00000232978.8	37	c.3798T>A	CCDS2702.1																																																																																				0.443	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		6	246	0	0	0	1	0	6	246				
EFCAB3	146779	broad.mit.edu	37	17	60493522	60493522	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr17:60493522T>C	ENST00000305286.3	+	10	1227	c.1149T>C	c.(1147-1149)aaT>aaC	p.N383N	EFCAB3_ENST00000450662.2_Silent_p.N435N	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	383							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GGTCCTGGAATGTTTGCCAAG	0.403																																						ENST00000450662.2																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17						c.(1303-1305)aaT>aaC		EF-hand calcium binding domain 3							87.0	91.0	90.0					17																	60493522		2203	4299	6502	SO:0001819	synonymous_variant	146779						calcium ion binding	g.chr17:60493522T>C	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.1149T>C	17.37:g.60493522T>C						EFCAB3_ENST00000305286.3_Silent_p.N383N	p.N435N	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	BRCA - Breast invasive adenocarcinoma(2;2.27e-11)		12	1376	+			383					J3KQM8	Silent	SNP	ENST00000305286.3	37	c.1305T>C	CCDS11632.1																																																																																				0.403	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503		3	79	0	0	0	1	0	3	79				
GYS1	2997	broad.mit.edu	37	19	49473955	49473955	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:49473955G>A	ENST00000323798.3	-	14	1853	c.1657C>T	c.(1657-1659)Ctt>Ttt	p.L553F	GYS1_ENST00000544287.1_Missense_Mutation_p.L186F|GYS1_ENST00000541188.1_Missense_Mutation_p.L473F|GYS1_ENST00000263276.6_Missense_Mutation_p.L489F	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	553					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)	p.L553F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CGCCGGTCAAGAATGTAGATA	0.587											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000323798.3																			1	Substitution - Missense(1)	p.L553F(1)	upper_aerodigestive_tract(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1657-1659)Ctt>Ttt		glycogen synthase 1 (muscle)							35.0	38.0	37.0					19																	49473955		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49473955G>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1657C>T	19.37:g.49473955G>A	ENSP00000317904:p.Leu553Phe		OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962	GYS1_ENST00000541188.1_Missense_Mutation_p.L473F|GYS1_ENST00000544287.1_Missense_Mutation_p.L186F|GYS1_ENST00000263276.6_Missense_Mutation_p.L489F	p.L553F	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	14	1853	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	553					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.1657C>T	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214232	0.79352	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.49	4.45	0.53987	.	0.071951	0.56097	D	0.000021	T	0.70098	0.3185	L	0.41492	1.28	0.80722	D	1	D;P;D	0.56968	0.978;0.952;0.96	P;P;P	0.58077	0.765;0.697;0.832	T	0.73313	-0.4022	10	0.87932	D	0	-18.3996	12.1582	0.54089	0.0834:0.0:0.9166:0.0	.	473;489;553	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	F	553;489;473;186	ENSP00000317904:L553F;ENSP00000263276:L489F;ENSP00000437922:L473F;ENSP00000444004:L186F	ENSP00000263276:L489F	L	-	1	0	GYS1	54165767	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	2.871000	0.48459	1.461000	0.47929	0.561000	0.74099	CTT		0.587	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		9	50	0	0	0	1	0	9	50				
HERC2	8924	broad.mit.edu	37	15	28491151	28491151	+	Silent	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:28491151G>A	ENST00000261609.7	-	23	3561	c.3453C>T	c.(3451-3453)ctC>ctT	p.L1151L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTCTTGCATGAGACCAGCAT	0.423																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(3451-3453)ctC>ctT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							102.0	89.0	94.0					15																	28491151		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28491151G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3453C>T	15.37:g.28491151G>A							p.L1151L	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	23	3561	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1151						Silent	SNP	ENST00000261609.7	37	c.3453C>T	CCDS10021.1																																																																																				0.423	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		118	122	0	0	0	1	0	118	122				
SAMD9	54809	broad.mit.edu	37	7	92733656	92733656	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr7:92733656T>C	ENST00000379958.2	-	3	2024	c.1755A>G	c.(1753-1755)ggA>ggG	p.G585G		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	585						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GATCTTTCCATCCCTGAAATA	0.378																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(1753-1755)ggA>ggG		sterile alpha motif domain containing 9							138.0	132.0	134.0					7																	92733656		2203	4300	6503	SO:0001819	synonymous_variant	54809					cytoplasm		g.chr7:92733656T>C	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1755A>G	7.37:g.92733656T>C							p.G585G	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	2024	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		585					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	c.1755A>G	CCDS34680.1																																																																																				0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		9	280	0	0	0	1	0	9	280				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		6	153	0	0	0	1	0	6	153				
SLC9A8	23315	broad.mit.edu	37	20	48467338	48467338	+	Intron	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr20:48467338A>T	ENST00000361573.2	+	7	576				SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Intron|SLC9A8_ENST00000417961.1_Missense_Mutation_p.I192F			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8						ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGTGTGTTTTATTTTACAGGC	0.358																																						ENST00000417961.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(574-576)Att>Ttt		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8							105.0	96.0	99.0					20																	48467338		2203	4300	6503	SO:0001627	intron_variant	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48467338A>T	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.535-9A>T	20.37:g.48467338A>T						SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Intron|SLC9A8_ENST00000361573.2_Intron	p.I192F	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		7	784	+			178					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	c.574A>T	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.533412	0.64972	.	.	ENSG00000197818	ENST00000417961	T	0.65178	-0.14	5.4	4.18	0.49190	.	.	.	.	.	T	0.62060	0.2397	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63116	-0.6709	6	0.48119	T	0.1	.	5.367	0.16119	0.7133:0.0:0.0861:0.2007	.	.	.	.	F	192	ENSP00000416418:I192F	ENSP00000416418:I192F	I	+	1	0	SLC9A8	47900745	0.976000	0.34144	1.000000	0.80357	0.994000	0.84299	0.316000	0.19469	2.158000	0.67659	0.528000	0.53228	ATT		0.358	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		5	101	0	0	0	1	0	5	101				
ZNF567	163081	broad.mit.edu	37	19	37211377	37211377	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:37211377C>T	ENST00000536254.2	+	6	1973	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000585696.1_Missense_Mutation_p.T553M|ZNF567_ENST00000588311.1_Missense_Mutation_p.T553M|ZNF567_ENST00000360729.4_Missense_Mutation_p.T553M|ZNF567_ENST00000392163.2_Missense_Mutation_p.T553M			Q8N184	ZN567_HUMAN	zinc finger protein 567	584					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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAACTCATACGGGAGAGAAA	0.408																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1657-1659)aCg>aTg		zinc finger protein 567							57.0	60.0	59.0					19																	37211377		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37211377C>T	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1751C>T	19.37:g.37211377C>T	ENSP00000441838:p.Thr584Met					ZNF567_ENST00000588311.1_Missense_Mutation_p.T553M|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.T553M|ZNF567_ENST00000536254.2_Missense_Mutation_p.T584M|ZNF567_ENST00000392163.2_Missense_Mutation_p.T553M	p.T553M			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2888	+	Esophageal squamous(110;0.198)		584					B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.1658C>T		.	.	.	.	.	.	.	.	.	.	C	15.42	2.828847	0.50845	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.26373	1.74;1.74;1.74	4.98	2.72	0.32119	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.166361	0.29233	N	0.012752	T	0.28366	0.0701	M	0.62266	1.93	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.46685	0.496;0.524	T	0.09975	-1.0650	10	0.87932	D	0	.	7.872	0.29571	0.1607:0.7503:0.0:0.089	.	584;553	Q8N184;F8WEL6	ZN567_HUMAN;.	M	584;528;553;583;553	ENSP00000441838:T584M;ENSP00000353957:T553M;ENSP00000376003:T553M	ENSP00000353957:T553M	T	+	2	0	ZNF567	41903217	0.291000	0.24352	0.991000	0.47740	0.993000	0.82548	4.221000	0.58574	1.463000	0.47967	0.561000	0.74099	ACG		0.408	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		5	129	0	0	0	1	0	5	129				
ASAP1	50807	broad.mit.edu	37	8	131127939	131127939	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr8:131127939C>T	ENST00000518721.1	-	23	2334	c.2107G>A	c.(2107-2109)Gta>Ata	p.V703I	ASAP1_ENST00000357668.1_Missense_Mutation_p.V703I	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	703					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCATATTCTACGTGGACGTGT	0.403																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2107-2109)Gta>Ata		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							269.0	239.0	249.0					8																	131127939		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131127939C>T	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2107G>A	8.37:g.131127939C>T	ENSP00000429900:p.Val703Ile					ASAP1_ENST00000518721.1_Missense_Mutation_p.V703I	p.V703I			Q9ULH1	ASAP1_HUMAN			22	2134	-			703					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.2107G>A	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.803533|4.803533	0.90623|0.90623	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124;ENST00000519483|ENST00000343135;ENST00000357668;ENST00000518721	.|T;T	.|0.07688	.|3.17;3.17	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Ankyrin repeat-containing domain (1);	.|0.119358	.|0.56097	.|D	.|0.000035	T|T	0.23289|0.23289	0.0563|0.0563	L|L	0.49640|0.49640	1.575|1.575	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.63880	.|0.988;0.988;0.993	.|D;D;D	.|0.74023	.|0.97;0.97;0.982	T|T	0.00692|0.00692	-1.1607|-1.1607	5|10	.|0.26408	.|T	.|0.33	.|.	18.0242|18.0242	0.89263|0.89263	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|703;703;706	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	H|I	523;116|706;703;703	.|ENSP00000350297:V703I;ENSP00000429900:V703I	.|ENSP00000344591:V706I	R|V	-|-	2|1	0|0	ASAP1|ASAP1	131197121|131197121	1.000000|1.000000	0.71417|0.71417	0.918000|0.918000	0.36340|0.36340	0.907000|0.907000	0.53573|0.53573	7.729000|7.729000	0.84864|0.84864	2.581000|2.581000	0.87130|0.87130	0.650000|0.650000	0.86243|0.86243	CGT|GTA		0.403	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		32	324	0	0	0	0.013726	0	32	324				
ZNF79	7633	broad.mit.edu	37	9	130207140	130207140	+	Silent	SNP	A	A	G			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:130207140A>G	ENST00000342483.5	+	5	1567	c.1161A>G	c.(1159-1161)aaA>aaG	p.K387K	ZNF79_ENST00000543471.1_Silent_p.K363K|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	387					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)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTGGGGAGAAACCCTACAAGT	0.532																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(1159-1161)aaA>aaG		zinc finger protein 79							75.0	72.0	73.0					9																	130207140		2203	4300	6503	SO:0001819	synonymous_variant	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130207140A>G	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1161A>G	9.37:g.130207140A>G						ZNF79_ENST00000543471.1_Silent_p.K363K	p.K387K	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1567	+			387					Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	c.1161A>G	CCDS6871.1																																																																																				0.532	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		7	148	0	0	0	0.004482	0	7	148				
ABCC11	85320	broad.mit.edu	37	16	48218463	48218463	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:48218463C>A	ENST00000394747.1	-	22	3495	c.3146G>T	c.(3145-3147)aGg>aTg	p.R1049M	ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049M|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049M|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049M	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1049	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GATCTCCAGCCTCAATGCCAT	0.483																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3145-3147)aGg>aTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							197.0	164.0	175.0					16																	48218463		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48218463C>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3146G>T	16.37:g.48218463C>A	ENSP00000378230:p.Arg1049Met					ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049M|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049M|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049M	p.R1049M	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			22	3495	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1049			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3146G>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.206115	0.39003	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	5.57	3.62	0.41486	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.293222	0.33938	N	0.004410	D	0.93785	0.8013	M	0.86651	2.83	0.27225	N	0.959569	D;D	0.71674	0.998;0.994	P;D	0.70487	0.891;0.969	D	0.87595	0.2493	10	0.66056	D	0.02	-14.9349	8.8685	0.35300	0.0:0.8275:0.0:0.1725	.	1049;1049	Q96J66-2;Q96J66	.;ABCCB_HUMAN	M	1049	ENSP00000311326:R1049M;ENSP00000349017:R1049M;ENSP00000378231:R1049M;ENSP00000378230:R1049M	ENSP00000311326:R1049M	R	-	2	0	ABCC11	46775964	0.185000	0.23213	0.204000	0.23530	0.229000	0.25112	1.868000	0.39509	0.720000	0.32209	0.563000	0.77884	AGG		0.483	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		57	128	1	0	2.22609e-26	0.014410	3.28348e-26	57	128				
MIR17HG	407975	broad.mit.edu	37	13	92003640	92003640	+	RNA	SNP	G	G	C			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr13:92003640G>C	ENST00000362310.2	+	0	184				MIR17HG_ENST00000385233.2_RNA|MIR17HG_ENST00000385012.1_RNA|MIR17HG_ENST00000384878.1_RNA|MIR17HG_ENST00000362279.1_RNA|MIR17HG_ENST00000384829.1_RNA	NR_029488.1		Q75NE6	MIRH1_HUMAN	miR-17-92 cluster host gene (non-protein coding)							integral component of membrane (GO:0016021)											GGCCTGTTGAGTTTGGTGGGG	0.378																																						ENST00000385233.2																			0																				167.0	134.0	144.0					13																	92003640		1568	3582	5150			407975							g.chr13:92003640G>C	AB176707		13q31.3	2014-07-18	2011-02-14	2009-07-24	ENSG00000215417	ENSG00000215417		"""-"""	23564	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 48"", ""long intergenic non-protein coding RNA 48"""	609415	"""chromosome 13 open reading frame 25"", ""microRNA host gene 1 (non-protein coding)"", ""MIR17 host gene (non-protein coding)"""	C13orf25, MIRHG1		15126345, 15944707, 16266980, 17210683, 23551855	Standard	NR_027349		Approved	FLJ14178, MIRH1, MIHG1, NCRNA00048, miR-17-92, LINC00048	uc010tie.1	Q75NE6	OTTHUMG00000017195		13.37:g.92003640G>C								NR_029508.1						0	73	+								A4QMU7|Q75NE7	RNA	SNP	ENST00000362310.2	37																																																																																						0.378	MIR17HG-202	KNOWN	basic	miRNA	processed_transcript		NR_027349		96	20	0	0	0	0.014410	0	96	20				
C6orf222	389384	broad.mit.edu	37	6	36298372	36298372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:36298372C>T	ENST00000437635.2	-	2	273	c.96G>A	c.(94-96)tgG>tgA	p.W32*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	32										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AATGGCAGTCCCACGACTCCG	0.647																																						ENST00000437635.2																			0				breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						c.(94-96)tgG>tgA		chromosome 6 open reading frame 222							51.0	58.0	56.0					6																	36298372		2202	4300	6502	SO:0001587	stop_gained	389384							g.chr6:36298372C>T		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.96G>A	6.37:g.36298372C>T	ENSP00000418983:p.Trp32*						p.W32*	NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN			2	273	-			32					B2RTY8	Nonsense_Mutation	SNP	ENST00000437635.2	37	c.96G>A	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184556	0.78677	.	.	ENSG00000189325	ENST00000437635	.	.	.	4.76	2.9	0.33743	.	1.944880	0.02601	N	0.101005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-22.7382	6.4133	0.21702	0.0:0.7119:0.1857:0.1024	.	.	.	.	X	32	.	ENSP00000418983:W32X	W	-	3	0	C6orf222	36406350	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	0.328000	0.19681	0.491000	0.27793	0.471000	0.43371	TGG		0.647	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		101	17	0	0	0	0.014410	0	101	17				
LTBP4	8425	broad.mit.edu	37	19	41133075	41133075	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:41133075G>A	ENST00000308370.7	+	32	4379	c.4379G>A	c.(4378-4380)cGc>cAc	p.R1460H	LTBP4_ENST00000204005.9_Missense_Mutation_p.R1423H|LTBP4_ENST00000545697.1_Missense_Mutation_p.R828H|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1393H	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1461	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCTTCGCCCGCCGGGAGGCT	0.657																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(4378-4380)cGc>cAc		latent transforming growth factor beta binding protein 4							14.0	21.0	19.0					19																	41133075		1922	4104	6026	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41133075G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4379G>A	19.37:g.41133075G>A	ENSP00000311905:p.Arg1460His					LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1393H|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1423H|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.R828H	p.R1460H	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		32	4379	+			1461			Pro-rich.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.4379G>A		.	.	.	.	.	.	.	.	.	.	G	19.10	3.761988	0.69763	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	T;D;T;T	0.83506	-1.38;-1.73;-1.39;-1.37	4.71	4.71	0.59529	.	0.221145	0.23317	N	0.049498	D	0.85008	0.5599	.	.	.	0.33197	D	0.551592	D;D;P;D;D;D	0.71674	0.986;0.986;0.955;0.975;0.975;0.998	P;P;B;P;P;P	0.54270	0.674;0.674;0.379;0.474;0.474;0.747	D	0.87226	0.2257	9	0.33940	T	0.23	.	13.034	0.58859	0.0:0.0:1.0:0.0	.	221;473;681;1393;1461;1423	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	H	1423;828;1460;1393;221	ENSP00000204005:R1423H;ENSP00000441054:R828H;ENSP00000311905:R1460H;ENSP00000380031:R1393H	ENSP00000204005:R1423H	R	+	2	0	LTBP4	45824915	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.191000	0.42640	2.441000	0.82636	0.563000	0.77884	CGC		0.657	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		19	9	0	0	0	0.021523	0	19	9				
NCOA3	8202	broad.mit.edu	37	20	46279830	46279830	+	Silent	SNP	G	G	A	rs147918555	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr20:46279830G>A	ENST00000371998.3	+	20	3947	c.3756G>A	c.(3754-3756)caG>caA	p.Q1252Q	NCOA3_ENST00000371997.3_Silent_p.Q1243Q|NCOA3_ENST00000341724.6_Silent_p.Q1178Q|NCOA3_ENST00000372004.3_Silent_p.Q1248Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1252	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.Q1252Q(3)		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	0.547													g|||	52	0.0103834	0.0053	0.0086	5008	,	,		14808	0.006		0.0	False		,,,				2504	0.0337					ENST00000372004.3																			3	Substitution - coding silent(3)	p.Q1252Q(3)	lung(2)|prostate(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.(3742-3744)caG>caA		nuclear receptor coactivator 3							47.0	54.0	51.0					20																	46279830		2202	4300	6502	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.chr20:46279830G>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.3756G>A	20.37:g.46279830G>A						NCOA3_ENST00000371997.3_Silent_p.Q1243Q|NCOA3_ENST00000371998.3_Silent_p.Q1252Q|NCOA3_ENST00000341724.6_Silent_p.Q1178Q	p.Q1248Q	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	3960	+			1252		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3744G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		3	25	0	0	0	0.009096	0	3	25				
SLITRK1	114798	broad.mit.edu	37	13	84454064	84454064	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr13:84454064G>A	ENST00000377084.2	-	1	2464	c.1579C>T	c.(1579-1581)Cac>Tac	p.H527Y		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	527					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGGTTTCCGTGGAGGTCTATC	0.547																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1579-1581)Cac>Tac		SLIT and NTRK-like family, member 1							54.0	54.0	54.0					13																	84454064		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454064G>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1579C>T	13.37:g.84454064G>A	ENSP00000366288:p.His527Tyr						p.H527Y	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2464	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	527					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1579C>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383803	0.61845	.	.	ENSG00000178235	ENST00000377084	T	0.51817	0.69	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	N	0.25201	0.72	0.80722	D	1	B	0.22909	0.077	B	0.20955	0.032	T	0.12319	-1.0552	10	0.39692	T	0.17	-14.1358	17.693	0.88273	0.0:0.0:1.0:0.0	.	527	Q96PX8	SLIK1_HUMAN	Y	527	ENSP00000366288:H527Y	ENSP00000366288:H527Y	H	-	1	0	SLITRK1	83352065	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.872000	0.87187	2.603000	0.88011	0.655000	0.94253	CAC		0.547	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		56	11	0	0	0	0.014410	0	56	11				
TAT	6898	broad.mit.edu	37	16	71610149	71610149	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:71610149C>T	ENST00000355962.4	-	2	303	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	57					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CACAATGGCTCGGATGGGGTT	0.502																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	ENST00000355962.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29						c.(169-171)cGa>cAa		tyrosine aminotransferase	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						143.0	115.0	124.0					16																	71610149		2198	4300	6498	SO:0001583	missense	6898				2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71610149C>T		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.170G>A	16.37:g.71610149C>T	ENSP00000348234:p.Arg57Gln					RP11-432I5.1_ENST00000561529.1_RNA	p.R57Q	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN		Kidney(780;0.0157)	2	303	-		Ovarian(137;0.125)	57					B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	c.170G>A	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	36	5.828712	0.96996	.	.	ENSG00000198650	ENST00000355962	D	0.89196	-2.48	6.01	6.01	0.97437	Tyrosine aminotransferase (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	M	0.90019	3.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.995;0.999	D	0.95818	0.8847	10	0.87932	D	0	-21.0816	20.5141	0.99211	0.0:1.0:0.0:0.0	.	57;57;57	Q8WW92;A1L4G7;P17735	.;.;ATTY_HUMAN	Q	57	ENSP00000348234:R57Q	ENSP00000348234:R57Q	R	-	2	0	TAT	70167650	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.487000	0.81328	2.850000	0.98022	0.655000	0.94253	CGA		0.502	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			37	44	0	0	0	0.014410	0	37	44				
WHAMMP3	339005	broad.mit.edu	37	15	23205098	23205098	+	RNA	SNP	G	G	A	rs146035894	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:23205098G>A	ENST00000400153.2	-	0	756					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		CTGGAAGAACGTGGTTGCCAC	0.373													a|||	60	0.0119808	0.0401	0.0043	5008	,	,		17673	0.002		0.001	False		,,,				2504	0.001					ENST00000400153.2																			0																																																			339005							g.chr15:23205098G>A	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205098G>A								NR_003521.1						0	756	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.373	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		5	26	0	0	0	0.014758	0	5	26				
ANXA3	306	broad.mit.edu	37	4	79522703	79522703	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:79522703G>T	ENST00000264908.6	+	11	1149	c.770G>T	c.(769-771)aGa>aTa	p.R257I	ANXA3_ENST00000503570.2_Missense_Mutation_p.R218I|ANXA3_ENST00000512884.1_Missense_Mutation_p.R218I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	257					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTAGCCGAAAGACTGCATCGA	0.388																																					GBM(2;126 157 27790 28920 42492)	ENST00000264908.6																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(769-771)aGa>aTa		annexin A3							131.0	122.0	125.0					4																	79522703		2203	4300	6503	SO:0001583	missense	306				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	g.chr4:79522703G>T	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.770G>T	4.37:g.79522703G>T	ENSP00000264908:p.Arg257Ile					ANXA3_ENST00000503570.2_Missense_Mutation_p.R218I|ANXA3_ENST00000512884.1_Missense_Mutation_p.R218I	p.R257I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN			11	1149	+			257					B2R9W6|Q6LET2	Missense_Mutation	SNP	ENST00000264908.6	37	c.770G>T	CCDS3584.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120043	0.56613	.	.	ENSG00000138772	ENST00000264908;ENST00000512884;ENST00000503570	T;T;T	0.03065	4.06;4.06;4.06	5.21	4.37	0.52481	.	0.104658	0.64402	D	0.000014	T	0.11067	0.0270	M	0.74647	2.275	0.58432	D	0.999999	P	0.49253	0.921	P	0.50708	0.648	T	0.00893	-1.1524	10	0.87932	D	0	.	12.562	0.56286	0.0811:0.0:0.9189:0.0	.	257	P12429	ANXA3_HUMAN	I	257;218;218	ENSP00000264908:R257I;ENSP00000423068:R218I;ENSP00000421015:R218I	ENSP00000264908:R257I	R	+	2	0	ANXA3	79741727	0.998000	0.40836	0.945000	0.38365	0.482000	0.33219	1.372000	0.34261	1.420000	0.47138	0.585000	0.79938	AGA		0.388	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		80	108	1	0	4.4782e-45	0.014410	6.77471e-45	80	108				
RSPH3	83861	broad.mit.edu	37	6	159420497	159420497	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:159420497C>T	ENST00000252655.1	-	1	701	c.512G>A	c.(511-513)cGc>cAc	p.R171H	RSPH3_ENST00000449822.1_Missense_Mutation_p.R29H|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RSPH3_ENST00000367069.2_Missense_Mutation_p.R29H|RP1-111C20.4_ENST00000607796.1_RNA|RSPH3_ENST00000297262.3_Missense_Mutation_p.R171H	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	171										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GTAACGGCTGCGCTGGCAGGG	0.687																																						ENST00000367069.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23						c.(85-87)cGc>cAc		radial spoke 3 homolog (Chlamydomonas)							33.0	37.0	36.0					6																	159420497		1958	3987	5945	SO:0001583	missense	83861							g.chr6:159420497C>T	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.512G>A	6.37:g.159420497C>T	ENSP00000252655:p.Arg171His					RSPH3_ENST00000297262.3_Missense_Mutation_p.R171H|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000449822.1_Missense_Mutation_p.R29H|RSPH3_ENST00000252655.1_Missense_Mutation_p.R171H	p.R29H			Q86UC2	RSPH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	1	722	-		Breast(66;0.00519)|Ovarian(120;0.123)	171					Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	c.86G>A	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250218	0.95305	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.22134	2.07;1.97;2.14;2.06	5.25	5.25	0.73442	.	0.120206	0.64402	D	0.000018	T	0.24122	0.0584	L	0.34521	1.04	0.28250	N	0.925305	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.973	T	0.04017	-1.0984	10	0.87932	D	0	-25.034	14.3307	0.66553	0.0:1.0:0.0:0.0	.	171;171	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	H	29;29;171;171	ENSP00000356036:R29H;ENSP00000393195:R29H;ENSP00000252655:R171H;ENSP00000297262:R171H	ENSP00000252655:R171H	R	-	2	0	RSPH3	159340485	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.733000	0.55029	2.448000	0.82819	0.563000	0.77884	CGC		0.687	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		4	36	0	0	0	0.009096	0	4	36				
GABRG3	2567	broad.mit.edu	37	15	27777970	27777970	+	Silent	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:27777970C>T	ENST00000333743.6	+	10	1601	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	449					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGGTCTTTTTCCCCACGTCCT	0.473																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42						c.(1345-1347)ttC>ttT		gamma-aminobutyric acid (GABA) A receptor, gamma 3							72.0	73.0	72.0					15																	27777970		1960	4147	6107	SO:0001819	synonymous_variant	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27777970C>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1347C>T	15.37:g.27777970C>T						RP11-100M12.3_ENST00000556642.1_RNA	p.F449F	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	10	1601	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	449					G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	c.1347C>T	CCDS45195.1																																																																																				0.473	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			53	35	0	0	0	0.014410	0	53	35				
BCL2L12	83596	broad.mit.edu	37	19	50169227	50169227	+	Silent	SNP	G	G	A	rs201895036	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:50169227G>A	ENST00000246785.3	+	1	405	c.147G>A	c.(145-147)gtG>gtA	p.V49V	IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000377139.3_5'Flank|IRF3_ENST00000597198.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000596765.1_5'Flank|BCL2L12_ENST00000441864.2_Silent_p.V49V|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000600022.1_5'Flank|BCL2L12_ENST00000246784.3_Silent_p.V49V	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	49					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CCGGCCCAGTGCGCAGGCGCG	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		14839	0.002		0.0	False		,,,				2504	0.0					ENST00000246785.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8						c.(145-147)gtG>gtA		BCL2-like 12 (proline rich)							21.0	22.0	21.0					19																	50169227		2202	4300	6502	SO:0001819	synonymous_variant	83596				apoptosis			g.chr19:50169227G>A	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.147G>A	19.37:g.50169227G>A						BCL2L12_ENST00000441864.2_Silent_p.V49V|BCL2L12_ENST00000246784.3_Silent_p.V49V	p.V49V	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)	1	405	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	49					Q3SY11|Q3SY13|Q96I96|Q9HB08	Silent	SNP	ENST00000246785.3	37	c.147G>A	CCDS12776.1																																																																																				0.617	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	NM_052842		26	50	0	0	0	0.021523	0	26	50				
ZKSCAN4	387032	broad.mit.edu	37	6	28219931	28219931	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:28219931G>A	ENST00000377294.2	-	0	71				ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTTATAGTCCGTGCCTTTGCA	0.537																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18								zinc finger with KRAB and SCAN domains 4																																						387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28219931G>A	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511		6.37:g.28219931G>A						ZKSCAN4_ENST00000423974.2_Intron		NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			0	71	-								B2RE32|Q5U7L4	Translation_Start_Site	SNP	ENST00000377294.2	37		CCDS4647.1																																																																																				0.537	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		6	0	0	0	0	0.021553	0	6	0				
TP53	7157	broad.mit.edu	37	17	7579699	7579699	+	Splice_Site	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr17:7579699C>A	ENST00000269305.4	-	3	286		c.e3+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTTGTCCTTACCAGAACGTTG	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)	liver(8)|bone(4)|central_nervous_system(2)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e3+1	Other conserved DNA damage response genes	tumor protein p53							41.0	42.0	42.0					17																	7579699		2202	4298	6500	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579699C>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.96+1G>T	17.37:g.7579699C>A		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_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site		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)	3	229	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297523	0.81025	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6079	0.51043	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520424	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.928000	0.40104	2.466000	0.83321	0.561000	0.74099	.		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	48	8	1	0	1.57945e-13	0.011902	2.21876e-13	48	8				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			386757							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			3	26	0	0	0	0.009096	0	3	26				
ZMYM6	9204	broad.mit.edu	37	1	35476132	35476132	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr1:35476132C>A	ENST00000357182.4	-	10	1635	c.1408G>T	c.(1408-1410)Gca>Tca	p.A470S	ZMYM6_ENST00000487874.1_Missense_Mutation_p.A470S|ZMYM6_ENST00000373340.2_Missense_Mutation_p.A470S|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	470					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TCACACATTGCCACAACTTTA	0.378																																						ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(1408-1410)Gca>Tca		zinc finger, MYM-type 6							145.0	138.0	141.0					1																	35476132		2203	4300	6503	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35476132C>A	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1408G>T	1.37:g.35476132C>A	ENSP00000349708:p.Ala470Ser					ZMYM6_ENST00000487874.1_Missense_Mutation_p.A470S|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.A470S	p.A470S	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN			10	1635	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	470					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.1408G>T	CCDS387.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186303	0.78789	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.22743	1.94;3.11	5.24	5.24	0.73138	Zinc finger, MYM-type (1);	0.297370	0.36338	N	0.002658	T	0.38295	0.1035	L	0.43923	1.385	0.45046	D	0.998061	D;D;D	0.71674	0.994;0.998;0.997	D;D;D	0.75484	0.926;0.986;0.939	T	0.01108	-1.1449	10	0.21014	T	0.42	-4.7555	18.3537	0.90348	0.0:1.0:0.0:0.0	.	373;470;470	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	S	470	ENSP00000362437:A470S;ENSP00000349708:A470S	ENSP00000349708:A470S	A	-	1	0	ZMYM6	35248719	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	2.729000	0.47327	2.890000	0.99128	0.650000	0.86243	GCA		0.378	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		6	150	1	0	3.59834e-05	0.021553	4.93725e-05	6	150				
TRPM3	80036	broad.mit.edu	37	9	73206031	73206031	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:73206031C>G	ENST00000377111.2	-	21	3346	c.3103G>C	c.(3103-3105)Gag>Cag	p.E1035Q	TRPM3_ENST00000360823.2_Missense_Mutation_p.E897Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.E907Q|TRPM3_ENST00000377110.3_Missense_Mutation_p.E1035Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.E894Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.E894Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.E897Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E884Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1039Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E907Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.E882Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1062Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1060					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CATGATGGCTCCTCATTGGGA	0.458																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(3103-3105)Gag>Cag		transient receptor potential cation channel, subfamily M, member 3							151.0	134.0	140.0					9																	73206031		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73206031C>G	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3103G>C	9.37:g.73206031C>G	ENSP00000366315:p.Glu1035Gln					TRPM3_ENST00000396285.1_Missense_Mutation_p.E882Q|TRPM3_ENST00000360823.2_Missense_Mutation_p.E897Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.E907Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1039Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.E897Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E884Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.E894Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E907Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1062Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.E894Q|TRPM3_ENST00000377111.2_Missense_Mutation_p.E1035Q	p.E1035Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			21	3346	-			1060					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3103G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.39|15.39	2.820181|2.820181	0.50633|0.50633	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	D;D;D;D;D;D;D;D;D;D;D|.	0.98474|.	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.052428|.	0.85682|.	D|.	0.000000|.	T|T	0.59797|0.59797	0.2220|0.2220	L|L	0.31804|0.31804	0.96|0.96	0.49389|0.49389	D|D	0.999786|0.999786	B;B;D;B;B;D;B;B|.	0.76494|.	0.185;0.058;0.987;0.221;0.11;0.999;0.317;0.182|.	B;B;P;B;B;D;B;B|.	0.68192|.	0.281;0.037;0.828;0.309;0.156;0.956;0.281;0.081|.	T|T	0.52403|0.52403	-0.8580|-0.8580	10|5	0.34782|.	T|.	0.22|.	-23.0749|-23.0749	19.9941|19.9941	0.97377|0.97377	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1035;1035;1025;1039;897;894;1007;882|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	Q|A	1035;1035;907;897;894;1039;894;882;907;897;1062|883	ENSP00000366315:E1035Q;ENSP00000366314:E1035Q;ENSP00000366310:E907Q;ENSP00000354066:E897Q;ENSP00000366309:E894Q;ENSP00000350140:E1039Q;ENSP00000386127:E894Q;ENSP00000379581:E882Q;ENSP00000379587:E907Q;ENSP00000350791:E897Q;ENSP00000389542:E1062Q|.	ENSP00000350140:E1039Q|.	E|G	-|-	1|2	0|0	TRPM3|TRPM3	72395851|72395851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.735000|2.735000	0.93741|0.93741	0.637000|0.637000	0.83480|0.83480	GAG|GGA		0.458	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		17	254	0	0	0	0.004990	0	17	254				
ELP4	26610	broad.mit.edu	37	11	31616324	31616324	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr11:31616324C>T	ENST00000350638.5	+	4	424	c.389C>T	c.(388-390)cCa>cTa	p.P130L	ELP4_ENST00000379163.5_Missense_Mutation_p.P130L|ELP4_ENST00000395934.2_Missense_Mutation_p.P130L	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	130					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TAGGAACTTCCAGCACCATTA	0.284																																						ENST00000395934.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20						c.(388-390)cCa>cTa		elongator acetyltransferase complex subunit 4							66.0	63.0	64.0					11																	31616324		1808	4066	5874	SO:0001583	missense	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31616324C>T	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.389C>T	11.37:g.31616324C>T	ENSP00000298937:p.Pro130Leu					ELP4_ENST00000379163.5_Missense_Mutation_p.P130L|ELP4_ENST00000350638.5_Missense_Mutation_p.P130L	p.P130L			Q96EB1	ELP4_HUMAN			4	396	+	Lung SC(675;0.225)		130					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.389C>T	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021798	0.75275	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	D;D;D	0.83755	-1.76;-1.76;-1.76	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.91372	0.7278	M	0.86805	2.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92248	0.5806	10	0.72032	D	0.01	-0.2929	12.3103	0.54925	0.0:0.9219:0.0:0.0781	.	130;130;130	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	L	130	ENSP00000298937:P130L;ENSP00000368461:P130L;ENSP00000379267:P130L	ENSP00000298937:P130L	P	+	2	0	ELP4	31572900	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.805000	0.62561	2.539000	0.85634	0.460000	0.39030	CCA		0.284	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		42	86	0	0	0	0.014410	0	42	86				
GEMIN8	54960	broad.mit.edu	37	X	14038421	14038421	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chrX:14038421C>A	ENST00000380523.4	-	4	566	c.248G>T	c.(247-249)tGg>tTg	p.W83L	GEMIN8_ENST00000398355.3_Missense_Mutation_p.W83L|GEMIN8_ENST00000460203.1_5'UTR	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	83					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						GTAGTCCTGCCAGGCCACATG	0.488																																						ENST00000380523.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						c.(247-249)tGg>tTg		gem (nuclear organelle) associated protein 8							141.0	126.0	131.0					X																	14038421		2203	4300	6503	SO:0001583	missense	54960				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	g.chrX:14038421C>A	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"""family with sequence similarity 51, member A1"""	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.248G>T	X.37:g.14038421C>A	ENSP00000369895:p.Trp83Leu					GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.W83L	p.W83L	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN			4	566	-			83					C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	c.248G>T	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	c	2.299	-0.360714	0.05103	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T	0.39787	1.06;1.06	5.28	1.45	0.22620	.	1.533280	0.03118	N	0.163405	T	0.35856	0.0946	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17776	-1.0358	10	0.13853	T	0.58	.	8.6807	0.34207	0.0:0.1669:0.5092:0.324	.	83	Q9NWZ8	GEMI8_HUMAN	L	83	ENSP00000369895:W83L;ENSP00000381398:W83L	ENSP00000369894:W83L	W	-	2	0	GEMIN8	13948342	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.653000	0.24902	-0.127000	0.11661	-0.199000	0.12753	TGG		0.488	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856		226	19	1	0	2.9979e-95	0.014410	4.65464e-95	226	19				
CST9L	128821	broad.mit.edu	37	20	23545640	23545640	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr20:23545640G>A	ENST00000376979.3	-	3	687	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	130						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGTCATCCAGGGCCTGGTGCT	0.552																																						ENST00000376979.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(388-390)cCc>cTc		cystatin 9-like							157.0	137.0	144.0					20																	23545640		2203	4300	6503	SO:0001583	missense	128821					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23545640G>A		CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"""cystatin 9 (mouse)-like"""			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.389C>T	20.37:g.23545640G>A	ENSP00000366178:p.Pro130Leu						p.P130L	NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN			3	687	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		130					B2R5A1	Missense_Mutation	SNP	ENST00000376979.3	37	c.389C>T	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034087	0.35893	.	.	ENSG00000101435	ENST00000376979	T	0.30182	1.54	1.74	1.74	0.24563	Proteinase inhibitor I25, cystatin (2);	0.212825	0.24067	N	0.041855	T	0.53594	0.1806	M	0.87381	2.88	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.34403	-0.9830	10	0.87932	D	0	.	6.9494	0.24536	0.0:0.0:1.0:0.0	.	130	Q9H4G1	CST9L_HUMAN	L	130	ENSP00000366178:P130L	ENSP00000366178:P130L	P	-	2	0	CST9L	23493640	0.525000	0.26290	0.058000	0.19502	0.007000	0.05969	2.709000	0.47160	1.262000	0.44165	0.305000	0.20034	CCC		0.552	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	NM_080610		94	134	0	0	0	0.014410	0	94	134				
XPC	7508	broad.mit.edu	37	3	14220061	14220061	+	Missense_Mutation	SNP	C	C	G	rs369735922		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:14220061C>G	ENST00000285021.7	-	1	222	c.8G>C	c.(7-9)cGg>cCg	p.R3P	LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Missense_Mutation_p.R3P	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	3					DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGCGCGTTTCCGAGCCATGTT	0.701			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(7-9)cGg>cCg	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							27.0	33.0	31.0					3																	14220061		1942	4120	6062	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14220061C>G		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.8G>C	3.37:g.14220061C>G	ENSP00000285021:p.Arg3Pro					LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Missense_Mutation_p.R3P	p.R3P	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			1	222	-			3					B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.8G>C	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.915376	0.73098	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000511155	T;T;T	0.62105	0.05;0.05;0.05	5.19	2.27	0.28462	.	0.406531	0.22152	N	0.063914	T	0.45196	0.1330	N	0.20986	0.625	0.35020	D	0.757773	B;B	0.15930	0.015;0.015	B;B	0.14023	0.01;0.01	T	0.42481	-0.9449	10	0.33940	T	0.23	-2.486	10.6788	0.45802	0.1383:0.5947:0.2671:0.0	.	3;3	E9PH69;Q01831	.;XPC_HUMAN	P	3	ENSP00000285021:R3P;ENSP00000404002:R3P;ENSP00000423867:R3P	ENSP00000285021:R3P	R	-	2	0	XPC	14195065	0.004000	0.15560	0.010000	0.14722	0.581000	0.36288	0.670000	0.25157	0.142000	0.18901	0.591000	0.81541	CGG		0.701	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		5	23	0	0	0	0.010729	0	5	23				
GRM6	2916	broad.mit.edu	37	5	178410177	178410177	+	Missense_Mutation	SNP	C	C	T	rs151103990	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr5:178410177C>T	ENST00000517717.1	-	10	2208	c.2170G>A	c.(2170-2172)Gtg>Atg	p.V724M	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.V724M			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	724					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TAGTCAATCACGCTGTGTGGG	0.607																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(2170-2172)Gtg>Atg		glutamate receptor, metabotropic 6		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	58.0	49.0	52.0		2170	2.6	0.7	5	dbSNP_134	52	9,8591	7.1+/-27.0	0,9,4291	yes	missense	GRM6	NM_000843.3	21	0,10,6493	TT,TC,CC		0.1047,0.0227,0.0769	benign	724/878	178410177	10,12996	2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178410177C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2170G>A	5.37:g.178410177C>T	ENSP00000430767:p.Val724Met					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.V724M	p.V724M	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	9	2348	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	724						Missense_Mutation	SNP	ENST00000517717.1	37	c.2170G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133924	0.37630	2.27E-4	0.001047	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.89123	-2.47;-2.47	5.33	2.58	0.30949	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.86887	0.6041	L	0.38175	1.15	0.27099	N	0.962676	B;P	0.51351	0.434;0.944	B;P	0.55824	0.165;0.785	T	0.75969	-0.3130	9	0.33940	T	0.23	.	4.3315	0.11066	0.1577:0.5874:0.0:0.2549	.	724;18	O15303;Q5HYM4	GRM6_HUMAN;.	M	724	ENSP00000231188:V724M;ENSP00000430767:V724M	ENSP00000231188:V724M	V	-	1	0	GRM6	178342783	0.406000	0.25344	0.653000	0.29593	0.679000	0.39708	0.879000	0.28146	0.339000	0.23719	0.484000	0.47621	GTG		0.607	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			39	60	0	0	0	0.013114	0	39	60				
ABCC11	85320	broad.mit.edu	37	16	48218462	48218462	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:48218462C>A	ENST00000394747.1	-	22	3496	c.3147G>T	c.(3145-3147)agG>agT	p.R1049S	ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049S|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049S|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1049	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TGATCTCCAGCCTCAATGCCA	0.483																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3145-3147)agG>agT		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							197.0	164.0	175.0					16																	48218462		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48218462C>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3147G>T	16.37:g.48218462C>A	ENSP00000378230:p.Arg1049Ser					ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049S|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049S|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049S	p.R1049S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			22	3496	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1049			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3147G>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465225	0.43839	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.57	-2.79	0.05841	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.293222	0.33938	N	0.004410	D	0.92789	0.7707	M	0.86651	2.83	0.23120	N	0.998267	B;D	0.57257	0.383;0.979	B;D	0.64506	0.151;0.926	D	0.87538	0.2457	10	0.66056	D	0.02	-14.9349	10.8349	0.46681	0.0:0.3676:0.0:0.6324	.	1049;1049	Q96J66-2;Q96J66	.;ABCCB_HUMAN	S	1049	ENSP00000311326:R1049S;ENSP00000349017:R1049S;ENSP00000378231:R1049S;ENSP00000378230:R1049S	ENSP00000311326:R1049S	R	-	3	2	ABCC11	46775963	0.005000	0.15991	0.178000	0.23040	0.224000	0.24922	-0.701000	0.05075	-0.360000	0.08138	0.563000	0.77884	AGG		0.483	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		56	132	1	0	2.69953e-25	0.014410	3.88469e-25	56	132				
ZNF79	7633	broad.mit.edu	37	9	130207131	130207131	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:130207131T>C	ENST00000342483.5	+	5	1558	c.1152T>C	c.(1150-1152)acT>acC	p.T384T	ZNF79_ENST00000543471.1_Silent_p.T360T|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	384					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)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GGACTCACACTGGGGAGAAAC	0.547																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(1150-1152)acT>acC		zinc finger protein 79							74.0	71.0	72.0					9																	130207131		2203	4300	6503	SO:0001819	synonymous_variant	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130207131T>C	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1152T>C	9.37:g.130207131T>C						ZNF79_ENST00000543471.1_Silent_p.T360T	p.T384T	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1558	+			384					Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	c.1152T>C	CCDS6871.1																																																																																				0.547	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		7	134	0	0	0	0.004482	0	7	134				
PRKACB	5567	broad.mit.edu	37	1	84700917	84700917	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr1:84700917G>C	ENST00000370689.2	+	10	1249	c.985G>C	c.(985-987)Gat>Cat	p.D329H	PRKACB_ENST00000370682.3_Missense_Mutation_p.D333H|PRKACB_ENST00000394838.2_Missense_Mutation_p.D336H|PRKACB_ENST00000394839.2_Missense_Mutation_p.D299H|PRKACB_ENST00000370685.3_Missense_Mutation_p.D376H	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	329	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		CAGCAACTTTGATGACTATGA	0.343																																						ENST00000370689.2																			0				breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16						c.(985-987)Gat>Cat		protein kinase, cAMP-dependent, catalytic, beta							77.0	80.0	79.0					1																	84700917		2203	4300	6503	SO:0001583	missense	5567				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	g.chr1:84700917G>C	BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.985G>C	1.37:g.84700917G>C	ENSP00000359723:p.Asp329His					PRKACB_ENST00000394839.2_Missense_Mutation_p.D299H|PRKACB_ENST00000370685.3_Missense_Mutation_p.D376H|PRKACB_ENST00000370682.3_Missense_Mutation_p.D333H|PRKACB_ENST00000394838.2_Missense_Mutation_p.D336H	p.D329H	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN		all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)	10	1249	+			329			AGC-kinase C-terminal.		B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	c.985G>C	CCDS691.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040484	0.93630	.	.	ENSG00000142875	ENST00000370689;ENST00000370685;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000394839;ENST00000370681	T;T;T;T;T	0.08807	3.05;3.05;3.05;3.05;3.05	6.17	6.17	0.99709	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	H	0.99752	4.75	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.992;0.995;0.998;0.997;0.987;1.0;0.999	D;D;P;D;D;D;D;D	0.81914	0.995;0.974;0.904;0.97;0.956;0.956;0.989;0.995	T	0.72669	-0.4223	10	0.87932	D	0	-24.3941	20.8794	0.99867	0.0:0.0:1.0:0.0	.	329;317;336;299;335;333;376;329	B2RB89;P22694-3;B4DKB0;B1APG4;P22694-6;P22694-7;P22694-2;P22694	.;.;.;.;.;.;.;KAPCB_HUMAN	H	329;376;336;333;335;299;291	ENSP00000359723:D329H;ENSP00000359719:D376H;ENSP00000378314:D336H;ENSP00000359716:D333H;ENSP00000378315:D299H	ENSP00000359713:D335H	D	+	1	0	PRKACB	84473505	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAT		0.343	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		5	103	0	0	0	0.021553	0	5	103				
HERC2	8924	broad.mit.edu	37	15	28491151	28491151	+	Silent	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:28491151G>A	ENST00000261609.7	-	23	3561	c.3453C>T	c.(3451-3453)ctC>ctT	p.L1151L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTCTTGCATGAGACCAGCAT	0.423																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(3451-3453)ctC>ctT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							102.0	89.0	94.0					15																	28491151		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28491151G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3453C>T	15.37:g.28491151G>A							p.L1151L	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	23	3561	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1151						Silent	SNP	ENST00000261609.7	37	c.3453C>T	CCDS10021.1																																																																																				0.423	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		61	62	0	0	0	0.014410	0	61	62				
KIF5A	3798	broad.mit.edu	37	12	57972099	57972099	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr12:57972099G>A	ENST00000455537.2	+	23	2786	c.2512G>A	c.(2512-2514)Gaa>Aaa	p.E838K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E749K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	838					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GAACAACCTGGAACAGCTTAC	0.473																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2512-2514)Gaa>Aaa		kinesin family member 5A							68.0	67.0	67.0					12																	57972099		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57972099G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2512G>A	12.37:g.57972099G>A	ENSP00000408979:p.Glu838Lys					KIF5A_ENST00000286452.5_Missense_Mutation_p.E749K	p.E838K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			23	2786	+			838					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.2512G>A	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631553	0.87660	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.86432	-2.12;-2.12	5.15	4.26	0.50523	.	0.246896	0.39544	N	0.001323	D	0.90724	0.7089	M	0.82323	2.585	0.41650	D	0.989126	P;P	0.41524	0.753;0.753	P;P	0.48400	0.576;0.489	D	0.91661	0.5342	10	0.52906	T	0.07	.	14.4704	0.67512	0.0:0.0:0.8515:0.1485	.	749;838	B7Z2M7;Q12840	.;KIF5A_HUMAN	K	838;749	ENSP00000408979:E838K;ENSP00000286452:E749K	ENSP00000286452:E749K	E	+	1	0	KIF5A	56258366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.802000	0.85969	1.551000	0.49450	0.558000	0.71614	GAA		0.473	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		86	111	0	0	0	0.014410	0	86	111				
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)gccfs	p.A3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.A3375fs	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(10198-10200)cccfs		vacuolar protein sorting 13 homolog D (S. cerevisiae)																																				SO:0001589	frameshift_variant	55187				protein localization			g.chr1:12422832_12422833insC	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10204dupC	1.37:g.12422838_12422838dupC	ENSP00000350854:p.Ala3400fs					VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	p.P3400fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	51	10328_10329	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3399						Frame_Shift_Ins	INS	ENST00000358136.3	37	c.10198_10199insC	CCDS30588.1																																																																																				0.426	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		8	425						8	425	---	---	---	---
EIF4G3	8672	broad.mit.edu	37	1	21306904	21306905	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:21306904_21306905insG	ENST00000264211.8	-	4	441_442	c.247_248insC	c.(247-249)caafs	p.Q83fs	EIF4G3_ENST00000374935.3_Frame_Shift_Ins_p.Q83fs|EIF4G3_ENST00000602326.1_Frame_Shift_Ins_p.Q90fs|EIF4G3_ENST00000374927.4_Frame_Shift_Ins_p.Q83fs|EIF4G3_ENST00000374937.3_Frame_Shift_Ins_p.Q90fs|EIF4G3_ENST00000356916.3_Frame_Shift_Ins_p.Q94fs|EIF4G3_ENST00000400422.1_Frame_Shift_Ins_p.Q83fs	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	83					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGATATTGTTGGGGGGGCCCA	0.441																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(268-270)acafs		eukaryotic translation initiation factor 4 gamma, 3																																				SO:0001589	frameshift_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21306904_21306905insG	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.248dupC	1.37:g.21306911_21306911dupG	ENSP00000264211:p.Gln83fs					EIF4G3_ENST00000400422.1_Frame_Shift_Ins_p.T83fs|EIF4G3_ENST00000374927.4_Frame_Shift_Ins_p.T83fs|EIF4G3_ENST00000356916.3_Frame_Shift_Ins_p.T94fs|EIF4G3_ENST00000374935.3_Frame_Shift_Ins_p.T83fs|EIF4G3_ENST00000374937.3_Frame_Shift_Ins_p.T90fs|EIF4G3_ENST00000264211.8_Frame_Shift_Ins_p.T83fs	p.T90fs	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	8	851_852	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	83					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Frame_Shift_Ins	INS	ENST00000264211.8	37	c.268_269insC	CCDS214.1																																																																																				0.441	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		7	28						7	28	---	---	---	---
UBXN11	91544	broad.mit.edu	37	1	26608843	26608844	+	In_Frame_Ins	INS	-	-	GGGACA	rs151149897|rs66614970|rs6667693		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:26608843_26608844insGGGACA	ENST00000374222.1	-	16	1973_1974	c.1509_1510insTGTCCC	c.(1507-1512)cccggt>cccTGTCCCggt	p.502_503insPC	UBXN11_ENST00000374221.3_In_Frame_Ins_p.502_503insPC|UBXN11_ENST00000357089.4_In_Frame_Ins_p.469_470insPC|UBXN11_ENST00000374217.2_In_Frame_Ins_p.469_470insPC|UBXN11_ENST00000374223.1_In_Frame_Ins_p.259_260insPC|UBXN11_ENST00000314675.7_In_Frame_Ins_p.382_383insPC			Q5T124	UBX11_HUMAN	UBX domain protein 11	502	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ggaccgggaccgggactggggc	0.733																																						ENST00000314675.7																			2	Insertion - In frame(1)|Deletion - In frame(1)	p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)	upper_aerodigestive_tract(1)|ovary(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(1147-1152)ccgtcc>ccTGTCCCgtcc		UBX domain protein 11																																				SO:0001652	inframe_insertion	91544					cytoplasm|cytoskeleton		g.chr1:26608843_26608844insGGGACA	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1509_1510insTGTCCC	1.37:g.26608843_26608844insGGGACA	ENSP00000363339:p.Ser502_Pro503insProCys					UBXN11_ENST00000374217.2_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000357089.4_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000374222.1_In_Frame_Ins_p.502_503insPV|UBXN11_ENST00000374223.1_In_Frame_Ins_p.259_260insPV|UBXN11_ENST00000374221.3_In_Frame_Ins_p.502_503insPV	p.382_383insPV	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			11	1228_1229	-			502					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	In_Frame_Ins	INS	ENST00000374222.1	37	c.1149_1150insTGTCCC	CCDS41288.1																																																																																				0.733	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		10	9						10	9	---	---	---	---
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:32673442_32673443insG	ENST00000291358.6	+	5	1181_1182	c.1160_1161insG	c.(1159-1164)ttggggfs	p.LG387fs	RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA|DCDC2B_ENST00000409358.1_5'Flank|IQCC_ENST00000537469.1_Frame_Shift_Ins_p.LG467fs	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.55																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(1399-1401)tggfs		IQ motif containing C																																				SO:0001589	frameshift_variant	55721							g.chr1:32673442_32673443insG	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1167dupG	1.37:g.32673449_32673449dupG	ENSP00000291358:p.Leu387fs					IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	p.W467fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN			5	1447_1448	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	387					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Frame_Shift_Ins	INS	ENST00000291358.6	37	c.1400_1401insG	CCDS355.1																																																																																				0.550	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		7	121						7	121	---	---	---	---
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)caafs	p.Q304fs	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.Q194fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(910-912)aaafs		zinc finger, MYND-type containing 12																																				SO:0001589	frameshift_variant	84217					intracellular	zinc ion binding	g.chr1:42898878_42898879insG	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.911dupC	1.37:g.42898884_42898884dupG	ENSP00000361646:p.Gln304fs					ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs	p.K304fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			7	1179_1180	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	304					Q5VUS6|Q8TC87|Q96M51	Frame_Shift_Ins	INS	ENST00000372565.3	37	c.910_911insC	CCDS467.1																																																																																				0.411	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		12	417						12	417	---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G	rs368823178		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)ccgfs	p.P430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGACGATCAACGGGGGGGCCAC	0.54			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1288-1290)cttfs		Janus kinase 1																																				SO:0001589	frameshift_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65325832_65325833insG	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1290dupC	1.37:g.65325839_65325839dupG	ENSP00000343204:p.Pro430fs						p.L430fs	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	9	1537_1538	-			430					Q59GQ2|Q9UD26	Frame_Shift_Ins	INS	ENST00000342505.4	37	c.1289_1290insC	CCDS41346.1																																																																																				0.540	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		7	183						7	183	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)tggfs	p.W170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(508-510)gggfs		epoxide hydrolase 4																																				SO:0001589	frameshift_variant	253152					integral to membrane	hydrolase activity	g.chr1:92511121_92511122insG	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.515dupG	1.37:g.92511128_92511128dupG	ENSP00000359410:p.Trp170fs						p.G170fs	NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN			4	606_607	+			170					Q8NCC6	Frame_Shift_Ins	INS	ENST00000370383.4	37	c.508_509insG	CCDS736.1																																																																																				0.386	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		28	324						28	324	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C	rs552970171		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)gccfs	p.A352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1054-1056)catfs		oviductal glycoprotein 1, 120kDa																																				SO:0001589	frameshift_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111959046_111959047insC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1055dupG	1.37:g.111959053_111959053dupC	ENSP00000358747:p.Ala352fs					OVGP1_ENST00000540696.1_3'UTR	p.H352fs	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	10	1109_1110	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	352					A0AV19|B9EGE1|Q15841	Frame_Shift_Ins	INS	ENST00000369732.3	37	c.1054_1055insG	CCDS834.1																																																																																				0.505	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		29	336						29	336	---	---	---	---
FAM212B	55924	broad.mit.edu	37	1	112269924	112269925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:112269924_112269925insC	ENST00000357260.5	-	2	740_741	c.559_560insG	c.(559-561)gcafs	p.A187fs	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.A172fs	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	187										cervix(1)|endometrium(1)	2						GGGTTCACGTGCCCCCCCAGTC	0.579																																						ENST00000357260.5																			0				cervix(1)|endometrium(1)	2						c.(559-561)acgfs		family with sequence similarity 212, member B																																				SO:0001589	frameshift_variant	55924							g.chr1:112269924_112269925insC	AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 183"""	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.560dupG	1.37:g.112269931_112269931dupC	ENSP00000349805:p.Ala187fs					FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.T172fs	p.T187fs	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN			2	740_741	-			187					B3KP38|B4DF94|Q9NTI6	Frame_Shift_Ins	INS	ENST00000357260.5	37	c.559_560insG	CCDS841.1																																																																																				0.579	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033060.2	NM_019099		12	186						12	186	---	---	---	---
SLC39A1	27173	broad.mit.edu	37	1	153934780	153934781	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:153934780_153934781insC	ENST00000368623.3	-	2	992_993	c.233_234insG	c.(232-234)ggcfs	p.G78fs	SLC39A1_ENST00000537590.1_Intron|SLC39A1_ENST00000310483.6_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000356205.4_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000368621.1_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000461071.1_5'Flank			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	78					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CCAAAAAGACGCCCCCCGCGAA	0.614																																						ENST00000368623.3																			0				kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(232-234)ggtfs		solute carrier family 39 (zinc transporter), member 1																																				SO:0001589	frameshift_variant	27173					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity	g.chr1:153934780_153934781insC	BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"""Solute carriers"""	12876	protein-coding gene	gene with protein product		604740	"""zinc/iron regulated transporter-like"""	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.234dupG	1.37:g.153934786_153934786dupC	ENSP00000357612:p.Gly78fs					SLC39A1_ENST00000368621.1_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000310483.6_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000356205.4_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000537590.1_Intron	p.G78fs			Q9NY26	S39A1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)	2	992_993	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		78					B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Frame_Shift_Ins	INS	ENST00000368623.3	37	c.233_234insG	CCDS1055.1																																																																																				0.614	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1	NM_014437		7	106						7	106	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158577072	158577073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:158577072_158577073insC	ENST00000361284.1	+	1	844_845	c.844_845insC	c.(844-846)accfs	p.T282fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	282						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(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TACTGTAGTGACCCCCCTCCTT	0.46																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(844-846)cccfs		olfactory receptor, family 10, subfamily Z, member 1																																				SO:0001589	frameshift_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158577072_158577073insC	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.850dupC	1.37:g.158577078_158577078dupC	ENSP00000354707:p.Thr282fs						p.P282fs	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	844_845	+	all_hematologic(112;0.0378)		282					Q5VYL0|Q6IFR7	Frame_Shift_Ins	INS	ENST00000361284.1	37	c.844_845insC	CCDS30901.1																																																																																				0.460	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		9	893						9	893	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:167865905_167865906insG	ENST00000367851.4	-	7	850_851	c.666_667insC	c.(664-669)cccaatfs	p.N223fs	ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.N70fs|ADCY10_ENST00000367848.1_Frame_Shift_Ins_p.N131fs	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(388-393)ccatttfs		adenylate cyclase 10 (soluble)																																				SO:0001589	frameshift_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167865905_167865906insG	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.667dupC	1.37:g.167865911_167865911dupG	ENSP00000356825:p.Asn223fs					ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs	p.F131fs			Q96PN6	ADCYA_HUMAN			7	887_888	-			223			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Frame_Shift_Ins	INS	ENST00000367851.4	37	c.390_391insC	CCDS1265.1																																																																																				0.332	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		7	544						7	544	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cgcfs	p.R287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624																																						ENST00000367187.3																			1	Deletion - Frameshift(1)	p.R287fs*92(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(859-861)cacfs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta																																				SO:0001589	frameshift_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438071_204438072insG	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.860dupC	1.37:g.204438078_204438078dupG	ENSP00000356155:p.Arg287fs					PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	p.H287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1415_1416	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		287			Interaction with GRB2.		O95666|Q5SW99	Frame_Shift_Ins	INS	ENST00000367187.3	37	c.859_860insC	CCDS1446.1																																																																																				0.624	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		25	246						25	246	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:207642043_207642044insC	ENST00000367058.3	+	3	806_807	c.617_618insC	c.(616-621)gtccccfs	p.VP206fs	CR2_ENST00000367059.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000367057.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000485707.1_3'UTR	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396																																						ENST00000367057.3																			1	Deletion - Frameshift(1)	p.T209fs*10(1)	breast(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(616-618)gccfs		complement component (3d/Epstein Barr virus) receptor 2																																				SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642043_207642044insC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.624dupC	1.37:g.207642050_207642050dupC	ENSP00000356025:p.Val206fs					CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR	p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			3	806_807	+			206			Sushi 3.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Ins	INS	ENST00000367058.3	37	c.617_618insC	CCDS1478.1																																																																																				0.396	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		9	392						9	392	---	---	---	---
EPHX1	2052	broad.mit.edu	37	1	226026383	226026384	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:226026383_226026384insC	ENST00000366837.4	+	4	589_590	c.393_394insC	c.(394-396)cccfs	p.P132fs	EPHX1_ENST00000272167.5_Frame_Shift_Ins_p.P132fs|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	132					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCCACGTGAAGCCCCCCCAGCT	0.624																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(391-396)aaccccfs		epoxide hydrolase 1, microsomal (xenobiotic)																																				SO:0001589	frameshift_variant	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226026383_226026384insC	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.400dupC	1.37:g.226026390_226026390dupC	ENSP00000355802:p.Pro132fs					EPHX1_ENST00000272167.5_Frame_Shift_Ins_p.NP131fs	p.NP131fs	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			4	589_590	+	Breast(184;0.197)		131					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Frame_Shift_Ins	INS	ENST00000366837.4	37	c.393_394insC	CCDS1547.1																																																																																				0.624	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		11	194						11	194	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)cccagcfs	p.S919fs	DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.S785fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.S882fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.S912fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.S902fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.S899fs|RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.S785fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2752-2757)ccgcaafs		dynactin 1																																				SO:0001589	frameshift_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74593376_74593377insG		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2755dupC	2.37:g.74593382_74593382dupG	ENSP00000354791:p.Ser919fs					DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs	p.Q919fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			23	3071_3072	-			919					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Frame_Shift_Ins	INS	ENST00000361874.3	37	c.2754_2755insC	CCDS1939.1																																																																																				0.559	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		9	474						9	474	---	---	---	---
PCGF1	84759	broad.mit.edu	37	2	74732899	74732900	+	Splice_Site	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:74732899_74732900insG	ENST00000233630.6	-	6	1442		c.e6-2		LBX2_ENST00000550249.1_5'Flank|PCGF1_ENST00000480844.2_Splice_Site|LBX2-AS1_ENST00000603175.1_RNA|LBX2-AS1_ENST00000548978.2_RNA|LBX2_ENST00000341396.2_5'Flank|LBX2_ENST00000460508.3_5'Flank	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TTGCCAGAACTGGGGGGAAATA	0.53																																						ENST00000233630.6																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						c.e6-2		polycomb group ring finger 1																																				SO:0001630	splice_region_variant	84759				histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding	g.chr2:74732899_74732900insG	AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.531-2->C	2.37:g.74732905_74732905dupG						PCGF1_ENST00000480844.2_Splice_Site		NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN			6	1442	-								Q7Z506	Splice_Site	INS	ENST00000233630.6	37		CCDS1946.2																																																																																				0.530	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673	Intron	7	394						7	394	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89082293	89082294	+	RNA	INS	-	-	ATTT	rs368332037		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:89082293_89082294insATTT	ENST00000393525.3	+	0	503									ankyrin repeat domain 36B pseudogene 2																		ATTAAAGTCTCATATGTTGAAC	0.332																																						ENST00000393525.3																			0																																																			645784							g.chr2:89082293_89082294insATTT			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89082293_89082294insATTT														0	503	+									RNA	INS	ENST00000393525.3	37																																																																																						0.332	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			8	51						8	51	---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128467384	128467385	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:128467384_128467385insG	ENST00000322313.4	-	19	3512_3513	c.3354_3355insC	c.(3352-3357)cccagafs	p.R1119fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1119					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCCTTCCTCTGGGGGGAGCAC	0.545																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3352-3357)ccgaggfs		WD repeat domain 33																																				SO:0001589	frameshift_variant	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128467384_128467385insG		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3355dupC	2.37:g.128467390_128467390dupG	ENSP00000325377:p.Arg1119fs						p.R1119fs	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	19	3512_3513	-	Colorectal(110;0.1)		1119					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Frame_Shift_Ins	INS	ENST00000322313.4	37	c.3354_3355insC	CCDS2150.1																																																																																				0.545	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		7	408						7	408	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:171240258_171240259insC	ENST00000408978.4	+	12	1367_1368	c.1224_1225insC	c.(1225-1227)cccfs	p.P409fs	MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.P409fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Frame_Shift_Ins_p.P418fs	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	409	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1249-1254)aaccccfs		myosin IIIB																																				SO:0001589	frameshift_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171240258_171240259insC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1231dupC	2.37:g.171240265_171240265dupC	ENSP00000386213:p.Pro409fs					MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs	p.NP417fs			Q8WXR4	MYO3B_HUMAN			12	1251_1252	+			408			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Frame_Shift_Ins	INS	ENST00000408978.4	37	c.1251_1252insC	CCDS42773.1																																																																																				0.465	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			11	324						11	324	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G	rs201174472|rs387906384		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cacfs	p.H206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	GRCh37	CI992797	NEUROD1	I		c.(616-618)cctfs		neuronal differentiation 1																																				SO:0001589	frameshift_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542971_182542972insG	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.617dupC	2.37:g.182542978_182542978dupG	ENSP00000295108:p.His206fs					NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	p.P206fs	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1073_1074	-			206					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Ins	INS	ENST00000295108.3	37	c.616_617insC	CCDS2283.1																																																																																				0.619	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		10	186						10	186	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G	rs567294324		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)aggfs	p.R559fs	ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.R523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.R513fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GACTATTTCAAGGGGGGGACTG	0.431																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1675-1677)gggfs		integrin, alpha V																																				SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521084_187521085insG		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1682dupG	2.37:g.187521091_187521091dupG	ENSP00000261023:p.Arg559fs					ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs	p.G559fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1949_1950	+			559					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Ins	INS	ENST00000261023.3	37	c.1675_1676insG	CCDS2292.1																																																																																				0.431	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		7	344						7	344	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C	rs373650820		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)gccfs	p.A404fs	INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.A403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(1210-1212)cccfs		inositol polyphosphate-5-phosphatase, 145kDa																																				SO:0001589	frameshift_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234072358_234072359insC	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1217dupC	2.37:g.234072365_234072365dupC	ENSP00000352575:p.Ala404fs					INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs	p.P404fs			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	14	1210_1211	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	416					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Frame_Shift_Ins	INS	ENST00000359570.5	37	c.1210_1211insC																																																																																					0.535	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		11	263						11	263	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cacfs	p.H202fs	NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.H202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.H242fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AATCACCAGGTGGGGGGGCAGG	0.535																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(604-606)cctfs		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240954220_240954221insG	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.605dupC	2.37:g.240954227_240954227dupG	ENSP00000252711:p.His202fs					NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	5	704_705	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	202					Q8WXC9	Frame_Shift_Ins	INS	ENST00000252711.2	37	c.604_605insC	CCDS2531.1																																																																																				0.535	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		7	218						7	218	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gtgfs	p.V850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.V826fs	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2548-2550)gatfs		SLIT-ROBO Rho GTPase activating protein 3																																				SO:0001589	frameshift_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9034599_9034600insC	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2549dupG	3.37:g.9034606_9034606dupC	ENSP00000373347:p.Val850fs					SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	p.D850fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	20	2975_2976	-			850					Q8IX13|Q8IZV8	Frame_Shift_Ins	INS	ENST00000383836.3	37	c.2548_2549insG	CCDS2572.1																																																																																				0.554	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			18	269						18	269	---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9517294	9517295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:9517294_9517295insC	ENST00000406341.1	+	22	4038_4039	c.3848_3849insC	c.(3847-3852)aaccccfs	p.NP1283fs	SETD5_ENST00000302463.6_Frame_Shift_Ins_p.NP1185fs|SETD5_ENST00000402198.1_Frame_Shift_Ins_p.NP1283fs|SETD5_ENST00000407969.1_Frame_Shift_Ins_p.NP1302fs|SETD5_ENST00000402466.1_Frame_Shift_Ins_p.NP1185fs			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1283	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGACCTGGAAACCCCCCCTCTC	0.55																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3553-3555)accfs		SET domain containing 5																																				SO:0001589	frameshift_variant	55209							g.chr3:9517294_9517295insC	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3855dupC	3.37:g.9517301_9517301dupC	ENSP00000383939:p.Asn1283fs					SETD5_ENST00000406341.1_Frame_Shift_Ins_p.T1283fs|SETD5_ENST00000302463.6_Frame_Shift_Ins_p.T1185fs|SETD5_ENST00000402198.1_Frame_Shift_Ins_p.T1283fs|SETD5_ENST00000407969.1_Frame_Shift_Ins_p.T1302fs	p.T1185fs			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	24	4322_4323	+	Medulloblastoma(99;0.227)		1283			Ser-rich.		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Frame_Shift_Ins	INS	ENST00000406341.1	37	c.3554_3555insC	CCDS46741.1																																																																																				0.550	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		9	279						9	279	---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs375350046|rs369823368|rs146316187		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:10088407_10088410delAGTA	ENST00000419585.1	+	15	1439	c.1278delAGTA	c.(1276-1278)tta>tt	p.L426fs	FANCD2_ENST00000383807.1_Splice_Site_p.L426fs|FANCD2_ENST00000383806.1_Splice_Site_p.L426fs|FANCD2_ENST00000287647.3_Splice_Site_p.L426fs			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.e15+1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2																																				SO:0001630	splice_region_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10088407_10088410delAGTA	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1278+1AGTA>-	3.37:g.10088407_10088410delAGTA						FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice	p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	15	1371	+			426					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Splice_Site	DEL	ENST00000419585.1	37	c.1278_splice	CCDS33696.1																																																																																				0.358	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		Frame_Shift_Del	12	107						12	107	---	---	---	---
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855|rs63751031		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)accfs	p.T495fs	MLH1_ENST00000536378.1_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.T397fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.T254fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.47		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		2	Substitution - Missense(1)|Whole gene deletion(1)	p.T495A(1)|p.0?(1)	ovary(1)|breast(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(1483-1485)cccfs	Mismatch excision repair (MMR)	mutL homolog 1																																				SO:0001589	frameshift_variant	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37070348_37070349insC	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1489dupC	3.37:g.37070354_37070354dupC	ENSP00000231790:p.Thr495fs					MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs	p.P495fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			13	1699_1700	+			495			Interaction with EXO1.		B4DI13|B4DQ11|E9PCU2	Frame_Shift_Ins	INS	ENST00000231790.2	37	c.1483_1484insC	CCDS2663.1																																																																																				0.470	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		13	827						13	827	---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39229648	39229649	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:39229648_39229649insG	ENST00000340369.3	-	2	1516_1517	c.1288_1289insC	c.(1288-1290)cagfs	p.Q430fs	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Frame_Shift_Ins_p.Q430fs	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	430					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTCATCCCTCTGGGGGGCACTC	0.564																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(1288-1290)gagfs		xin actin-binding repeat containing 1																																				SO:0001589	frameshift_variant	165904						actin binding	g.chr3:39229648_39229649insG	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1289dupC	3.37:g.39229654_39229654dupG	ENSP00000343140:p.Gln430fs					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Frame_Shift_Ins_p.E430fs	p.E430fs	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	1516_1517	-			430					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Frame_Shift_Ins	INS	ENST00000340369.3	37	c.1288_1289insC	CCDS2683.1																																																																																				0.564	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		8	723						8	723	---	---	---	---
NCKIPSD	51517	broad.mit.edu	37	3	48716892	48716893	+	Splice_Site	INS	-	-	G	rs546326030	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:48716892_48716893insG	ENST00000294129.2	-	9	1609		c.e9-2		NCKIPSD_ENST00000341520.4_Splice_Site|NCKIPSD_ENST00000416649.2_Splice_Site	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain						cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCTGGTGGTCTGGGGGGGACAA	0.569																																						ENST00000294129.2																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.e9-2		NCK interacting protein with SH3 domain																																				SO:0001630	splice_region_variant	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48716892_48716893insG	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1490-2->C	3.37:g.48716899_48716899dupG						NCKIPSD_ENST00000416649.2_Splice_Site|NCKIPSD_ENST00000341520.4_Splice_Site		NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	9	1609	-								B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Splice_Site	INS	ENST00000294129.2	37		CCDS2776.1																																																																																				0.569	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453	Intron	7	167						7	167	---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50005144	50005145	+	Frame_Shift_Ins	INS	-	-	G	rs141234052	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:50005144_50005145insG	ENST00000266022.4	+	3	545_546	c.286_287insG	c.(286-288)aggfs	p.R96fs	RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	96					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACATGATTTCAGGGGGGGAGAT	0.495																																						ENST00000266022.4																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(286-288)gggfs		RNA binding motif protein 6																																				SO:0001589	frameshift_variant	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50005144_50005145insG	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.293dupG	3.37:g.50005151_50005151dupG	ENSP00000266022:p.Arg96fs					RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron	p.G96fs	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	545_546	+			96					O60549|O75524|Q86SS3	Frame_Shift_Ins	INS	ENST00000266022.4	37	c.286_287insG	CCDS2809.1																																																																																				0.495	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		13	292						13	292	---	---	---	---
ARHGEF3	50650	broad.mit.edu	37	3	56789130	56789131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:56789130_56789131insG	ENST00000296315.3	-	3	421_422	c.253_254insC	c.(253-255)cgafs	p.R85fs	ARHGEF3_ENST00000495373.1_Frame_Shift_Ins_p.R85fs|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000413728.2_Frame_Shift_Ins_p.R91fs|ARHGEF3_ENST00000496106.1_Frame_Shift_Ins_p.R91fs|ARHGEF3_ENST00000497267.1_Frame_Shift_Ins_p.R56fs|ARHGEF3_ENST00000338458.4_Frame_Shift_Ins_p.R117fs	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	85					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GGACCAGGGTCGGGGGGCGAGG	0.579																																						ENST00000413728.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25						c.(271-273)accfs		Rho guanine nucleotide exchange factor (GEF) 3																																				SO:0001589	frameshift_variant	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56789130_56789131insG	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.254dupC	3.37:g.56789136_56789136dupG	ENSP00000296315:p.Arg85fs					ARHGEF3_ENST00000296315.3_Frame_Shift_Ins_p.T85fs|ARHGEF3_ENST00000338458.4_Frame_Shift_Ins_p.T117fs|ARHGEF3_ENST00000497267.1_Frame_Shift_Ins_p.T56fs|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Frame_Shift_Ins_p.T85fs|ARHGEF3_ENST00000496106.1_Frame_Shift_Ins_p.T91fs	p.T91fs	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	3	814_815	-			85					A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Frame_Shift_Ins	INS	ENST00000296315.3	37	c.271_272insC	CCDS2878.1																																																																																				0.579	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		7	382						7	382	---	---	---	---
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G	rs201949188		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(127-129)gggfs	p.G43fs	KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000479470.1_3'UTR	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	43	BTB.				protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465																																						ENST00000355076.6																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(124-129)ttggggfs		potassium channel tetramerization domain containing 6																																				SO:0001589	frameshift_variant	200845					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr3:58486771_58486772insG	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.133dupG	3.37:g.58486778_58486778dupG	ENSP00000347188:p.Gly43fs					KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs	p.LG42fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)	2	1109_1110	+			42			BTB.		B3KNI5|Q8NBS6|Q8TCA6	Frame_Shift_Ins	INS	ENST00000355076.6	37	c.126_127insG	CCDS2891.1																																																																																				0.465	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	NM_153331		9	471						9	471	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:87018182_87018183insC	ENST00000398399.2	-	3	857_858	c.494_495insG	c.(493-495)ggafs	p.G165fs	VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGGATGAACTCCCCCCAAACA	0.579																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(493-495)ggtfs		vestigial like 3 (Drosophila)																																				SO:0001589	frameshift_variant	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87018182_87018183insC	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.495dupG	3.37:g.87018188_87018188dupC	ENSP00000381436:p.Gly165fs					VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	p.G165fs	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	857_858	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	165						Frame_Shift_Ins	INS	ENST00000398399.2	37	c.494_495insG	CCDS43110.1																																																																																				0.579	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		9	473						9	473	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108822739	108822740	+	Frame_Shift_Ins	INS	-	-	C	rs142771630		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:108822739_108822740insC	ENST00000483760.1	-	4	222_223	c.179_180insG	c.(178-180)ggafs	p.G60fs	MORC1-AS1_ENST00000480826.1_RNA|MORC1_ENST00000232603.5_Frame_Shift_Ins_p.G60fs					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACAACATGAATCCCCCCTGCAG	0.376																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(178-180)gttfs		MORC family CW-type zinc finger 1																																				SO:0001589	frameshift_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108822739_108822740insC	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.180dupG	3.37:g.108822745_108822745dupC	ENSP00000417282:p.Gly60fs					MORC1_ENST00000483760.1_Frame_Shift_Ins_p.V60fs|MORC1-AS1_ENST00000480826.1_RNA	p.V60fs	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			4	261_262	-			60						Frame_Shift_Ins	INS	ENST00000483760.1	37	c.179_180insG																																																																																					0.376	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			9	796						9	796	---	---	---	---
SLC9C1	285335	broad.mit.edu	37	3	111936361	111936362	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:111936361_111936362insT	ENST00000305815.5	-	15	1969_1970	c.1717_1718insA	c.(1717-1719)acafs	p.T573fs	SLC9C1_ENST00000487372.1_Frame_Shift_Ins_p.T525fs	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	573					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AAAGGTAACTGTTTTTTGGCTT	0.297																																						ENST00000305815.5																			0											c.(1717-1719)agtfs		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1																																				SO:0001589	frameshift_variant	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111936361_111936362insT	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1718dupA	3.37:g.111936367_111936367dupT	ENSP00000306627:p.Thr573fs					SLC9C1_ENST00000487372.1_Frame_Shift_Ins_p.S525fs	p.S573fs	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			15	1969_1970	-			573					Q6ZRP4|Q7RTP2	Frame_Shift_Ins	INS	ENST00000305815.5	37	c.1717_1718insA	CCDS33817.1																																																																																				0.297	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		7	149						7	149	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113375177	113375178	+	Frame_Shift_Ins	INS	-	-	G	rs370810362		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:113375177_113375178insG	ENST00000478658.1	-	5	5368_5369	c.5351_5352insC	c.(5350-5352)ccafs	p.P1784fs	KIAA2018_ENST00000316407.4_Frame_Shift_Ins_p.P1784fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1784						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.P1784Q(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTCAATTGGTGGGGGGCCAGT	0.426																																						ENST00000316407.4																			1	Substitution - Missense(1)	p.P1784Q(1)	lung(1)	NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(5350-5352)cccfs		KIAA2018																																				SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113375177_113375178insG	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5352dupC	3.37:g.113375183_113375183dupG	ENSP00000420721:p.Pro1784fs					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Ins_p.P1784fs	p.P1784fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	5761_5762	-			1784					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Ins	INS	ENST00000478658.1	37	c.5351_5352insC	CCDS43133.1																																																																																				0.426	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		7	590						7	590	---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114058002	114058003	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:114058002_114058003insG	ENST00000474710.1	-	5	2253_2254	c.2075_2076insC	c.(2074-2076)cctfs	p.P692fs	ZBTB20_ENST00000471418.1_Frame_Shift_Ins_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Ins_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Ins_p.P619fs|ZBTB20_ENST00000481632.1_Frame_Shift_Ins_p.P619fs|ZBTB20_ENST00000357258.3_Frame_Shift_Ins_p.P619fs|ZBTB20_ENST00000462705.1_Frame_Shift_Ins_p.P619fs	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	692						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGTGCCTGCAGGGGGGGTCCC	0.634																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			1	Deletion - Frameshift(1)	p.P619fs*43(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1855-1857)cgcfs		zinc finger and BTB domain containing 20																																				SO:0001589	frameshift_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058002_114058003insG	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2076dupC	3.37:g.114058009_114058009dupG	ENSP00000419153:p.Pro692fs					ZBTB20_ENST00000481632.1_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000474710.1_Frame_Shift_Ins_p.R692fs|ZBTB20_ENST00000471418.1_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000357258.3_Frame_Shift_Ins_p.R619fs	p.R619fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2677_2678	-			692					Q63HP6|Q8N6R5|Q9Y410	Frame_Shift_Ins	INS	ENST00000474710.1	37	c.1856_1857insC	CCDS54626.1																																																																																				0.634	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		8	111						8	111	---	---	---	---
PDIA5	10954	broad.mit.edu	37	3	122869088	122869089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:122869088_122869089insC	ENST00000316218.7	+	14	1245_1246	c.1150_1151insC	c.(1150-1152)gccfs	p.A384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.|Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGCCCTGAGGCCCCCCCGCCC	0.604																																						ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(1150-1152)cccfs		protein disulfide isomerase family A, member 5				3,4263		0,3,2130						2.4	1.0			51	1,8251		0,1,4125	no	frameshift	PDIA5	NM_006810.3		0,4,6255	A1A1,A1R,RR		0.0121,0.0703,0.032				4,12514				SO:0001589	frameshift_variant	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122869088_122869089insC	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1157dupC	3.37:g.122869095_122869095dupC	ENSP00000323313:p.Ala384fs					PDIA5_ENST00000467157.1_3'UTR	p.P384fs	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	14	1245_1246	+			384			Thioredoxin 2.|Thioredoxin 3.		D3DN95|Q9BV43	Frame_Shift_Ins	INS	ENST00000316218.7	37	c.1150_1151insC	CCDS3020.1																																																																																				0.604	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		13	435						13	435	---	---	---	---
MUC13	56667	broad.mit.edu	37	3	124646628	124646629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:124646628_124646629insG	ENST00000311075.3	-	2	299_300	c.261_262insC	c.(259-264)cccatafs	p.I88fs	MUC13_ENST00000497378.1_5'Flank	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	89	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.441																																						ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(259-264)cctaatfs		mucin 13, cell surface associated																																				SO:0001589	frameshift_variant	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124646628_124646629insG	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.262dupC	3.37:g.124646634_124646634dupG	ENSP00000312235:p.Ile88fs						p.N88fs	NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN			2	299_300	-			88			Thr-rich.		Q6UWD9|Q9NXT5	Frame_Shift_Ins	INS	ENST00000311075.3	37	c.261_262insC																																																																																					0.441	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		8	1286						8	1286	---	---	---	---
ANAPC13	25847	broad.mit.edu	37	3	134197443	134197444	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:134197443_134197444insG	ENST00000510994.1	-	3	943_944	c.213_214insC	c.(211-216)cccattfs	p.I72fs	ANAPC13_ENST00000511751.1_Frame_Shift_Ins_p.I72fs|ANAPC13_ENST00000354910.5_Frame_Shift_Ins_p.I72fs|ANAPC13_ENST00000514612.1_Frame_Shift_Ins_p.I72fs	NM_001242374.1	NP_001229303.1	Q9BS18	APC13_HUMAN	anaphase promoting complex subunit 13	72					mitotic nuclear division (GO:0007067)|protein K11-linked ubiquitination (GO:0070979)	anaphase-promoting complex (GO:0005680)				lung(1)|skin(1)	2						CAGTTTCCAATGGGGGGAACAT	0.421																																						ENST00000510994.1																			0				lung(1)|skin(1)	2						c.(211-216)ccttggfs		anaphase promoting complex subunit 13																																				SO:0001589	frameshift_variant	25847				cell division|mitosis|protein K11-linked ubiquitination	anaphase-promoting complex		g.chr3:134197443_134197444insG	AF086169	CCDS3085.1	3q22.1	2011-06-15				ENSG00000129055		"""Anaphase promoting complex subunits"""	24540	protein-coding gene	gene with protein product		614484				15060174	Standard	NM_015391		Approved	SWM1, APC13, DKFZP566D193	uc003eqi.3	Q9BS18		ENST00000510994.1:c.214dupC	3.37:g.134197449_134197449dupG	ENSP00000421842:p.Ile72fs					ANAPC13_ENST00000511751.1_Frame_Shift_Ins_p.W72fs|ANAPC13_ENST00000514612.1_Frame_Shift_Ins_p.W72fs|ANAPC13_ENST00000354910.5_Frame_Shift_Ins_p.W72fs	p.W72fs	NM_001242374.1	NP_001229303.1	Q9BS18	APC13_HUMAN			3	943_944	-			72					Q9Y3V0	Frame_Shift_Ins	INS	ENST00000510994.1	37	c.213_214insC	CCDS3085.1																																																																																				0.421	ANAPC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357412.1	NM_015391		7	495						7	495	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134851847	134851848	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:134851847_134851848insC	ENST00000398015.3	+	5	1623_1624	c.1253_1254insC	c.(1252-1257)ttccccfs	p.FP418fs	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	418	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AAGAGTCCCTTCCCCCCACAGC	0.579																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1252-1254)tccfs		EPH receptor B1																																				SO:0001589	frameshift_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134851847_134851848insC	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1259dupC	3.37:g.134851853_134851853dupC	ENSP00000381097:p.Phe418fs					EPHB1_ENST00000493838.1_5'UTR	p.S418fs	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			5	1623_1624	+			418			Fibronectin type-III 1.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Frame_Shift_Ins	INS	ENST00000398015.3	37	c.1253_1254insC	CCDS46921.1																																																																																				0.579	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		8	270						8	270	---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138413709	138413710	+	Frame_Shift_Ins	INS	-	-	G	rs199713806		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:138413709_138413710insG	ENST00000477593.1	-	13	1883_1884	c.1810_1811insC	c.(1810-1812)cggfs	p.R604fs	PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.R604fs|PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.R50fs			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	604	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TAGGGCCTCCCGGGGGGGCAGT	0.465																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(1810-1812)ggafs		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta																																				SO:0001589	frameshift_variant	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138413709_138413710insG		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1811dupC	3.37:g.138413716_138413716dupG	ENSP00000418143:p.Arg604fs					PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.G604fs|PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.G50fs	p.G604fs			P42338	PK3CB_HUMAN			13	1883_1884	-			604			PI3K helical.		D3DNF0|Q24JU2	Frame_Shift_Ins	INS	ENST00000477593.1	37	c.1810_1811insC	CCDS3104.1																																																																																				0.465	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			14	187						14	187	---	---	---	---
MME	4311	broad.mit.edu	37	3	154884713	154884714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:154884713_154884714insC	ENST00000460393.1	+	18	1803_1804	c.1683_1684insC	c.(1684-1686)cccfs	p.P562fs	MME_ENST00000462745.1_Frame_Shift_Ins_p.P562fs|MME_ENST00000493237.1_Frame_Shift_Ins_p.P562fs|MME_ENST00000360490.2_Frame_Shift_Ins_p.P562fs|MME_ENST00000492661.1_Frame_Shift_Ins_p.P562fs|MME-AS1_ENST00000484721.1_RNA	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	562					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.Q561H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GCATTCTGCAGCCCCCCTTCTT	0.446																																						ENST00000460393.1																			1	Substitution - Missense(1)	p.Q561H(1)	lung(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1681-1686)caccccfs		membrane metallo-endopeptidase	Candoxatril(DB00616)																																			SO:0001589	frameshift_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154884713_154884714insC		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1689dupC	3.37:g.154884719_154884719dupC	ENSP00000418525:p.Pro562fs					MME_ENST00000360490.2_Frame_Shift_Ins_p.HP561fs|MME_ENST00000492661.1_Frame_Shift_Ins_p.HP561fs|MME_ENST00000493237.1_Frame_Shift_Ins_p.HP561fs|MME_ENST00000462745.1_Frame_Shift_Ins_p.HP561fs|MME-AS1_ENST00000484721.1_RNA	p.HP561fs	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		18	1803_1804	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	561					A8K6U6|D3DNJ9|Q3MIX4	Frame_Shift_Ins	INS	ENST00000460393.1	37	c.1683_1684insC	CCDS3172.1																																																																																				0.446	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		9	420						9	420	---	---	---	---
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(943-945)gggfs	p.G315fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.G315fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	315										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(940-945)atggggfs		sterile alpha motif domain containing 7																																				SO:0001589	frameshift_variant	344658							g.chr3:169646267_169646268insG	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.948dupG	3.37:g.169646273_169646273dupG	ENSP00000391299:p.Gly315fs					SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		7	1331_1332	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		314						Frame_Shift_Ins	INS	ENST00000428432.2	37	c.942_943insG	CCDS3209.1																																																																																				0.381	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		7	622						7	622	---	---	---	---
HTR3E	285242	broad.mit.edu	37	3	183823745	183823746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:183823745_183823746insC	ENST00000415389.2	+	7	1379_1380	c.913_914insC	c.(913-915)accfs	p.T305fs	HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.T331fs|HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.T290fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.T320fs|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.T305fs|HTR3E-AS1_ENST00000431427.1_RNA	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	305					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CACCAGTGGCACCCCCCTCATC	0.54																																					Melanoma(7;227 727 6634 44770)	ENST00000415389.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(913-915)cccfs		5-hydroxytryptamine (serotonin) receptor 3E, ionotropic																																				SO:0001589	frameshift_variant	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183823745_183823746insC	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.919dupC	3.37:g.183823751_183823751dupC	ENSP00000401444:p.Thr305fs					HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.P290fs|HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.P331fs|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.P305fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.P320fs	p.P305fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	1379_1380	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		305					A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Frame_Shift_Ins	INS	ENST00000415389.2	37	c.913_914insC	CCDS58868.1																																																																																				0.540	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		8	584						8	584	---	---	---	---
LETM1	3954	broad.mit.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G	rs559993367		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:1843235_1843236insG	ENST00000302787.2	-	3	728_729	c.432_433insC	c.(430-435)cccgcafs	p.A145fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	145					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCACCTCTGCGGGGGGGCTGT	0.604																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(430-435)cccagafs		leucine zipper-EF-hand containing transmembrane protein 1																																				SO:0001589	frameshift_variant	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1843235_1843236insG	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.433dupC	4.37:g.1843242_1843242dupG	ENSP00000305653:p.Ala145fs						p.R145fs	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		3	728_729	-			145					B4DED2|Q9UF65	Frame_Shift_Ins	INS	ENST00000302787.2	37	c.432_433insC	CCDS3355.1																																																																																				0.604	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			8	120						8	120	---	---	---	---
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:25005320_25005321insC	ENST00000382114.4	-	8	1575_1576	c.1390_1391insG	c.(1390-1392)gccfs	p.A464fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	464						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGGGTCATGGCCCCCCGGGAT	0.515																																						ENST00000382114.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(1390-1392)catfs		leucine-rich repeat LGI family, member 2																																				SO:0001589	frameshift_variant	55203					extracellular region		g.chr4:25005320_25005321insC	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1391dupG	4.37:g.25005326_25005326dupC	ENSP00000371548:p.Ala464fs						p.H464fs	NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN			8	1575_1576	-		Breast(46;0.173)	464					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Frame_Shift_Ins	INS	ENST00000382114.4	37	c.1390_1391insG	CCDS3431.1																																																																																				0.515	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			10	638						10	638	---	---	---	---
STIM2	57620	broad.mit.edu	37	4	27019446	27019447	+	Frame_Shift_Ins	INS	-	-	C	rs551838879		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:27019446_27019447insC	ENST00000467011.1	+	11	2028_2029	c.1603_1604insC	c.(1603-1605)gccfs	p.A535fs	STIM2_ENST00000237364.5_Frame_Shift_Ins_p.A622fs|STIM2_ENST00000412829.2_Frame_Shift_Ins_p.A622fs|STIM2_ENST00000467087.1_Frame_Shift_Ins_p.A535fs|STIM2_ENST00000382009.3_Frame_Shift_Ins_p.A630fs|STIM2_ENST00000465503.1_Frame_Shift_Ins_p.A543fs	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	535	His/Pro-rich.				activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TGCTCCACACGCCCCCCACCCG	0.619																																						ENST00000382009.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1888-1890)cccfs		stromal interaction molecule 2																																				SO:0001589	frameshift_variant	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27019446_27019447insC	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1609dupC	4.37:g.27019452_27019452dupC	ENSP00000419383:p.Ala535fs					STIM2_ENST00000467011.1_Frame_Shift_Ins_p.P535fs|STIM2_ENST00000467087.1_Frame_Shift_Ins_p.P535fs|STIM2_ENST00000465503.1_Frame_Shift_Ins_p.P543fs|STIM2_ENST00000237364.5_Frame_Shift_Ins_p.P622fs|STIM2_ENST00000412829.2_Frame_Shift_Ins_p.P622fs	p.P630fs	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN			12	2155_2156	+		Breast(46;0.0503)	535					A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Frame_Shift_Ins	INS	ENST00000467011.1	37	c.1888_1889insC	CCDS54752.1																																																																																				0.619	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		7	478						7	478	---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47559697	47559698	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:47559697_47559698insG	ENST00000273859.3	+	12	2110_2111	c.1841_1842insG	c.(1840-1845)ctggggfs	p.LG614fs	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	614					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CACCCTTCACTGGGGGGGTTGC	0.401																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(1840-1842)cggfs		ATPase, class V, type 10D																																				SO:0001589	frameshift_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47559697_47559698insG	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1848dupG	4.37:g.47559704_47559704dupG	ENSP00000273859:p.Leu614fs					AC092597.3_ENST00000508081.1_RNA	p.R614fs	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			12	2110_2111	+			614					A2RRC8|D6REN2|Q8NC70|Q96SR3	Frame_Shift_Ins	INS	ENST00000273859.3	37	c.1841_1842insG	CCDS3476.1																																																																																				0.401	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		8	169						8	169	---	---	---	---
IGFBP7	3490	broad.mit.edu	37	4	57907076	57907077	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:57907076_57907077insG	ENST00000295666.4	-	2	531_532	c.498_499insC	c.(496-501)cccaagfs	p.K167fs	IGFBP7_ENST00000537922.1_Frame_Shift_Ins_p.K167fs|IGFBP7_ENST00000512512.1_5'UTR	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	167	Ig-like C2-type.				cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAGATGTCCTTGGGGGGCGTCA	0.505																																						ENST00000295666.4																			0				central_nervous_system(1)|endometrium(1)|lung(3)	5						c.(496-501)ccaggafs		insulin-like growth factor binding protein 7	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	3490				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding	g.chr4:57907076_57907077insG	S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"""Immunoglobulin superfamily / I-set domain containing"""	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.499dupC	4.37:g.57907082_57907082dupG	ENSP00000295666:p.Lys167fs					IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Frame_Shift_Ins_p.G167fs	p.G167fs	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN			2	531_532	-	Glioma(25;0.08)|all_neural(26;0.181)		167			Ig-like C2-type.		B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Frame_Shift_Ins	INS	ENST00000295666.4	37	c.498_499insC	CCDS3512.1																																																																																				0.505	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250693.1			7	202						7	202	---	---	---	---
CXCL9	4283	broad.mit.edu	37	4	76924806	76924806	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:76924806delT	ENST00000264888.5	-	4	361	c.323delA	c.(322-324)aagfs	p.K109fs	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	109					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|defense response (GO:0006952)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|cytokine activity (GO:0005125)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CAGAACTTTCTTTTTTTGATG	0.333																																						ENST00000264888.5																			0				large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11						c.(322-324)agfs		chemokine (C-X-C motif) ligand 9							169.0	158.0	162.0					4																	76924806		2202	4298	6500	SO:0001589	frameshift_variant	4283				cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity	g.chr4:76924806delT	X72755	CCDS34014.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000138755		"""Endogenous ligands"""	7098	protein-coding gene	gene with protein product		601704	"""monokine induced by gamma interferon"""	CMK, MIG		8476424, 9730616	Standard	NM_002416		Approved	SCYB9, Humig, crg-10	uc003hjh.1	Q07325		ENST00000264888.5:c.323delA	4.37:g.76924806delT	ENSP00000354901:p.Lys109fs					RP11-630D6.5_ENST00000501239.2_RNA	p.K109fs	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		4	361	-			109					Q503B4	Frame_Shift_Del	DEL	ENST00000264888.5	37	c.323delA	CCDS34014.1																																																																																				0.333	CXCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362819.1			8	715						8	715	---	---	---	---
SMARCAD1	56916	broad.mit.edu	37	4	95199781	95199782	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:95199781_95199782insC	ENST00000354268.4	+	18	2266_2267	c.2193_2194insC	c.(2194-2196)cccfs	p.P732fs	SMARCAD1_ENST00000509418.1_Frame_Shift_Ins_p.P302fs|SMARCAD1_ENST00000457823.2_Frame_Shift_Ins_p.P732fs			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	732					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TCAAGCAGTTACCCCCCAAGAA	0.322																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2191-2196)ttccccfs		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1																																				SO:0001589	frameshift_variant	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95199781_95199782insC	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2199dupC	4.37:g.95199787_95199787dupC	ENSP00000346217:p.Pro732fs					SMARCAD1_ENST00000457823.2_Frame_Shift_Ins_p.FP731fs|SMARCAD1_ENST00000509418.1_Frame_Shift_Ins_p.FP301fs	p.FP731fs			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	18	2266_2267	+			731					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Frame_Shift_Ins	INS	ENST00000354268.4	37	c.2193_2194insC	CCDS3639.1																																																																																				0.322	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		7	434						7	434	---	---	---	---
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs	HPGDS_ENST00000514774.1_5'Flank	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351																																					Colon(86;1802 1843 17863 46794)	ENST00000295256.5																			0				breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7						c.(409-414)gggagafs		hematopoietic prostaglandin D synthase	Glutathione(DB00143)																																			SO:0001589	frameshift_variant	27306				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity	g.chr4:95223320_95223321insC	D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.412dupG	4.37:g.95223326_95223326dupC	ENSP00000295256:p.Arg138fs						p.R138fs	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN			5	501_502	-			138			GST C-terminal.		Q6FHT9	Frame_Shift_Ins	INS	ENST00000295256.5	37	c.411_412insG	CCDS3640.1																																																																																				0.351	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1	NM_014485		9	1050						9	1050	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96091356	96091357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:96091356_96091357insG	ENST00000453304.1	-	15	2926_2927	c.2578_2579insC	c.(2578-2580)cagfs	p.Q860fs		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	860	Death.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCCTCTCGTCTGGGGGGCATCC	0.599																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(2578-2580)gacfs		unc-5 homolog C (C. elegans)																																				SO:0001589	frameshift_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96091356_96091357insG	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2579dupC	4.37:g.96091362_96091362dupG	ENSP00000406022:p.Gln860fs						p.D860fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	15	2926_2927	-		Hepatocellular(203;0.114)	860			Death.		Q8IUT0	Frame_Shift_Ins	INS	ENST00000453304.1	37	c.2578_2579insC	CCDS3643.1																																																																																				0.599	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		9	580						9	580	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)caafs	p.Q491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.Q510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1471-1473)agafs		unc-5 homolog C (C. elegans)																																				SO:0001589	frameshift_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140293_96140294insG	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1472dupC	4.37:g.96140299_96140299dupG	ENSP00000406022:p.Gln491fs					UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	p.R491fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1819_1820	-		Hepatocellular(203;0.114)	491					Q8IUT0	Frame_Shift_Ins	INS	ENST00000453304.1	37	c.1471_1472insC	CCDS3643.1																																																																																				0.505	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		12	737						12	737	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114280134	114280135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:114280134_114280135insG	ENST00000357077.4	+	38	10413_10414	c.10360_10361insG	c.(10360-10362)aggfs	p.R3454fs	ANK2_ENST00000264366.6_Frame_Shift_Ins_p.R3421fs|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3454					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T3457fs*8(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTCCTGCAGGGGGGGCACG	0.455																																						ENST00000357077.4																			1	Insertion - Frameshift(1)	p.T3457fs*8(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(10360-10362)gggfs		ankyrin 2, neuronal																																				SO:0001589	frameshift_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114280134_114280135insG	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10367dupG	4.37:g.114280141_114280141dupG	ENSP00000349588:p.Arg3454fs					ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	p.G3454fs	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	10413_10414	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3421					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Ins	INS	ENST00000357077.4	37	c.10360_10361insG	CCDS3702.1																																																																																				0.455	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		16	237						16	237	---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:125590618_125590619insC	ENST00000504087.1	-	4	4850_4851	c.3813_3814insG	c.(3811-3816)gggaaafs	p.K1272fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.K1093fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1272	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTCTGATTTCCCCCCTTTAC	0.391																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(3811-3816)ggaatcfs		ankyrin repeat domain 50																																				SO:0001589	frameshift_variant	57182							g.chr4:125590618_125590619insC	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3814dupG	4.37:g.125590624_125590624dupC	ENSP00000425658:p.Lys1272fs					ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.I1093fs	p.I1272fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	4850_4851	-			1272			Ser-rich.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Frame_Shift_Ins	INS	ENST00000504087.1	37	c.3813_3814insG	CCDS34060.1																																																																																				0.391	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		8	1048						8	1048	---	---	---	---
SH3D19	152503	broad.mit.edu	37	4	152095943	152095944	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:152095943_152095944insG	ENST00000409252.2	-	6	1279_1280	c.572_573insC	c.(571-573)ccafs	p.P191fs	SH3D19_ENST00000424281.1_Frame_Shift_Ins_p.P191fs|SH3D19_ENST00000514152.1_Frame_Shift_Ins_p.P191fs|SH3D19_ENST00000427414.2_Frame_Shift_Ins_p.P191fs|SH3D19_ENST00000604030.1_5'Flank|SH3D19_ENST00000455740.1_Frame_Shift_Ins_p.P191fs|SH3D19_ENST00000409598.4_Frame_Shift_Ins_p.P191fs|SH3D19_ENST00000304527.4_Frame_Shift_Ins_p.P191fs			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	191	Pro-rich.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GAACTGGAACTGGGGGGTTGGC	0.559																																						ENST00000409598.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20						c.(571-573)cgtfs		SH3 domain containing 19																																				SO:0001589	frameshift_variant	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152095943_152095944insG	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.573dupC	4.37:g.152095949_152095949dupG	ENSP00000386848:p.Pro191fs					SH3D19_ENST00000427414.2_Frame_Shift_Ins_p.R191fs|SH3D19_ENST00000514152.1_Frame_Shift_Ins_p.R191fs|SH3D19_ENST00000424281.1_Frame_Shift_Ins_p.R191fs|SH3D19_ENST00000455740.1_Frame_Shift_Ins_p.R191fs|SH3D19_ENST00000304527.4_Frame_Shift_Ins_p.R191fs|SH3D19_ENST00000409252.2_Frame_Shift_Ins_p.R191fs	p.R191fs			Q5HYK7	SH319_HUMAN			7	1739_1740	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	191			Pro-rich.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Frame_Shift_Ins	INS	ENST00000409252.2	37	c.572_573insC	CCDS34077.2																																																																																				0.559	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		10	1054						10	1054	---	---	---	---
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:155526058_155526059insC	ENST00000336098.3	-	9	1327_1328	c.1289_1290insG	c.(1288-1290)ggafs	p.G430fs	FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000404648.3_Frame_Shift_Ins_p.G430fs	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.45																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1288-1290)ggcfs		fibrinogen gamma chain	Sucralfate(DB00364)																																			SO:0001589	frameshift_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155526058_155526059insC		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1290dupG	4.37:g.155526064_155526064dupC	ENSP00000336829:p.Gly430fs					FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs	p.G430fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			9	1528_1529	-	all_hematologic(180;0.215)	Renal(120;0.0458)	430			Platelet aggregation and Staphylococcus clumping.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Frame_Shift_Ins	INS	ENST00000336098.3	37	c.1289_1290insG	CCDS3788.1																																																																																				0.450	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		12	753						12	753	---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160253650	160253651	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:160253650_160253651insC	ENST00000264431.4	+	11	1872_1873	c.1453_1454insC	c.(1453-1455)gccfs	p.A485fs		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	485					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAGAAATGGTGCCCCCCACCTT	0.366																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(1453-1455)cccfs		Rap guanine nucleotide exchange factor (GEF) 2																																				SO:0001589	frameshift_variant	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160253650_160253651insC	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1459dupC	4.37:g.160253656_160253656dupC	ENSP00000264431:p.Ala485fs						p.P485fs	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	11	1872_1873	+	all_hematologic(180;0.24)		485					D3DP27	Frame_Shift_Ins	INS	ENST00000264431.4	37	c.1453_1454insC	CCDS43277.1																																																																																				0.366	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		7	265						7	265	---	---	---	---
GPM6A	2823	broad.mit.edu	37	4	176622884	176622885	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:176622884_176622885insC	ENST00000280187.7	-	3	116_117	c.71_72insG	c.(70-72)ggcfs	p.G24fs	GPM6A_ENST00000506894.1_Frame_Shift_Ins_p.G13fs|GPM6A_ENST00000393658.2_Frame_Shift_Ins_p.G24fs|GPM6A_ENST00000515090.1_Frame_Shift_Ins_p.G17fs	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	24					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CATAGGGAATGCCCCCCAGGCA	0.431																																						ENST00000280187.7																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(70-72)gatfs		glycoprotein M6A																																				SO:0001589	frameshift_variant	2823					cell surface|integral to membrane		g.chr4:176622884_176622885insC		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.72dupG	4.37:g.176622890_176622890dupC	ENSP00000280187:p.Gly24fs					GPM6A_ENST00000515090.1_Frame_Shift_Ins_p.D17fs|GPM6A_ENST00000506894.1_Frame_Shift_Ins_p.D13fs|GPM6A_ENST00000393658.2_Frame_Shift_Ins_p.D24fs	p.D24fs	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	3	116_117	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	24					B7Z642|E9PHI5|Q92602	Frame_Shift_Ins	INS	ENST00000280187.7	37	c.71_72insG	CCDS3824.1																																																																																				0.431	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			8	489						8	489	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186515043	186515044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:186515043_186515044insC	ENST00000284776.7	-	19	3639_3640	c.3130_3131insG	c.(3130-3132)gaafs	p.E1044fs	RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.E610fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.E1144fs|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.E588fs|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.E605fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.E768fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.E948fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.E675fs|SORBS2_ENST00000431808.1_Frame_Shift_Ins_p.E1044fs	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACCT	0.356																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			4	Insertion - Frameshift(4)	p.E1044fs*8(2)|p.E605fs*8(2)	haematopoietic_and_lymphoid_tissue(4)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(3130-3132)accfs		sorbin and SH3 domain containing 2																																				SO:0001589	frameshift_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186515043_186515044insC		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.3131dupG	4.37:g.186515050_186515050dupC	ENSP00000284776:p.Glu1044fs					SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.T675fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.T1144fs|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.T605fs|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.T1044fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.T588fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.T610fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.T948fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.T768fs	p.T1044fs			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	20	3693_3694	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	1044			SH3 3.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Frame_Shift_Ins	INS	ENST00000284776.7	37	c.3130_3131insG	CCDS3845.1																																																																																				0.356	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		12	280						12	280	---	---	---	---
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:186997804_186997805insG	ENST00000296795.3	+	2	135_136	c.31_32insG	c.(31-33)tggfs	p.W11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(31-33)gggfs		toll-like receptor 3																																				SO:0001589	frameshift_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:186997804_186997805insG	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.38dupG	4.37:g.186997811_186997811dupG	ENSP00000296795:p.Trp11fs						p.G11fs	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	2	135_136	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	11					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Frame_Shift_Ins	INS	ENST00000296795.3	37	c.31_32insG	CCDS3846.1																																																																																				0.446	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			20	374						20	374	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:189012770_189012771insG	ENST00000512729.1	-	7	1294_1295	c.920_921insC	c.(919-921)cctfs	p.P307fs	TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	307	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCTTTTCAGAGGGGGGAAGAC	0.559																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(919-921)cctfs		tripartite motif family-like 2																																				SO:0001589	frameshift_variant	205860						ligase activity	g.chr4:189012770_189012771insG	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.921dupC	4.37:g.189012776_189012776dupG	ENSP00000422581:p.Pro307fs					TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	p.P307fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1294_1295	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	307			B30.2/SPRY.		B7Z6J6	Frame_Shift_Ins	INS	ENST00000512729.1	37	c.920_921insC	CCDS3850.1																																																																																				0.559	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		10	697						10	697	---	---	---	---
MTRR	4552	broad.mit.edu	37	5	7875405	7875406	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:7875405_7875406insG	ENST00000264668.2	+	4	429_430	c.399_400insG	c.(400-402)gggfs	p.G134fs	MTRR_ENST00000440940.2_Frame_Shift_Ins_p.G107fs|MTRR_ENST00000502509.1_3'UTR|MTRR_ENST00000341013.6_Frame_Shift_Ins_p.MG55fs	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	134	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ACTTTTGCAATGGGGGGAAGAT	0.406																																						ENST00000264668.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31						c.(397-402)aaggggfs		5-methyltetrahydrofolate-homocysteine methyltransferase reductase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)																																			SO:0001589	frameshift_variant	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7875405_7875406insG	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.405dupG	5.37:g.7875411_7875411dupG	ENSP00000264668:p.Gly134fs					MTRR_ENST00000440940.2_Frame_Shift_Ins_p.KG106fs|MTRR_ENST00000502509.1_3'UTR|MTRR_ENST00000341013.6_Frame_Shift_Ins_p.R55fs	p.KG133fs	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN			4	429_430	+			133			Flavodoxin-like.		O60471|Q32MA9|Q7Z4M8	Frame_Shift_Ins	INS	ENST00000264668.2	37	c.399_400insG	CCDS3874.1																																																																																				0.406	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			8	532						8	532	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)aggfs	p.R101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.R101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(301-303)gggfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31799656_31799657insG	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.308dupG	5.37:g.31799663_31799663dupG	ENSP00000402033:p.Arg101fs					PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs	p.G101fs			O15018	PDZD2_HUMAN			2	689_690	+			101			PDZ 1.		Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.301_302insG	CCDS34137.1																																																																																				0.574	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			7	248						7	248	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(931-933)gggfs	p.G311fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.G311fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	311					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGTGTGATTGGGGGGCAGCT	0.52																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(928-933)atggggfs		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36679798_36679799insG		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.936dupG	5.37:g.36679804_36679804dupG	ENSP00000265113:p.Gly311fs					CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	p.MG310fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1406_1407	+	all_lung(31;0.000245)		310					B2R5T3|Q4JCQ8	Frame_Shift_Ins	INS	ENST00000265113.4	37	c.930_931insG	CCDS3919.1																																																																																				0.520	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		14	865						14	865	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	36986119	36986120	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:36986119_36986120insG	ENST00000282516.8	+	10	3336_3337	c.2837_2838insG	c.(2836-2841)ttggggfs	p.LG946fs	NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.LG946fs|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	946					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGTTATTTGTTGGGGGGCAGGT	0.391																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(2836-2838)tggfs		Nipped-B homolog (Drosophila)																																				SO:0001589	frameshift_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36986119_36986120insG	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2843dupG	5.37:g.36986125_36986125dupG	ENSP00000282516:p.Leu946fs					NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.W946fs	p.W946fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	3336_3337	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		946					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Ins	INS	ENST00000282516.8	37	c.2837_2838insG	CCDS3920.1																																																																																				0.391	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		12	404						12	404	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)gggccafs	p.P325fs	FYB_ENST00000512982.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.P335fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.P325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.54																																						ENST00000351578.6																			4	Substitution - Missense(4)	p.P325A(3)|p.P335A(1)	kidney(4)	endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(970-975)ggcatgfs		FYN binding protein																																				SO:0001589	frameshift_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202090_39202091insC	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.973dupG	5.37:g.39202097_39202097dupC	ENSP00000316460:p.Pro325fs					FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs	p.M325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	Epithelial(62;0.235)		2	1162_1163	-	all_lung(31;0.000343)		325					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Frame_Shift_Ins	INS	ENST00000351578.6	37	c.972_973insG	CCDS47200.1																																																																																				0.540	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		8	325						8	325	---	---	---	---
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)caafs	p.Q595fs	C6_ENST00000475349.1_5'Flank|C6_ENST00000337836.5_Frame_Shift_Ins_p.Q595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCTCCTCGTTGGGGGGCAGGA	0.5																																						ENST00000263413.3																			1	Substitution - Missense(1)	p.Q595K(1)	lung(1)	central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1783-1785)acgfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41159256_41159257insG	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1784dupC	5.37:g.41159262_41159262dupG	ENSP00000263413:p.Gln595fs					C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	p.T595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			12	2047_2048	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	595			TSP type-1 3.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.1783_1784insC	CCDS3936.1																																																																																				0.500	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			13	428						13	428	---	---	---	---
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C	rs372345940		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggagcfs	p.S277fs	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.S277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96	GRCh37	CD982526	C6	D		c.(826-831)gggctcfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181559_41181560insC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.829dupG	5.37:g.41181566_41181566dupC	ENSP00000263413:p.Ser277fs					C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs|C6_ENST00000475349.1_5'UTR	p.L277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			7	1092_1093	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	277			MACPF.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.828_829insG	CCDS3936.1																																																																																				0.376	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			17	336						17	336	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71491428	71491429	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:71491428_71491429insA	ENST00000296755.7	+	5	2544_2545	c.2246_2247insA	c.(2245-2250)gcaaaafs	p.AK749fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	749	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGTCTGAAGCAAAAAAACCAG	0.396																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(2245-2247)gaafs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491428_71491429insA	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2253dupA	5.37:g.71491435_71491435dupA	ENSP00000296755:p.Ala749fs						p.E749fs	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2544_2545	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	749			Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).		A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.2246_2247insA	CCDS4012.1																																																																																				0.396	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		8	808						8	808	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5898)agccccfs	p.SP1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5893-5895)accfs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495076_71495077insC	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5901dupC	5.37:g.71495083_71495083dupC	ENSP00000296755:p.Ser1965fs						p.T1965fs	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6192_6193	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1965					A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.5894_5895insC	CCDS4012.1																																																																																				0.485	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		22	592						22	592	---	---	---	---
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)catfs	p.H294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366																																						ENST00000322348.4																			1	Insertion - Frameshift(1)	p.H294fs*2(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(880-882)taafs		glucosaminyl (N-acetyl) transferase 4, core 2																																				SO:0001589	frameshift_variant	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74324982_74324983insG	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.881dupC	5.37:g.74324989_74324989dupG	ENSP00000317027:p.His294fs						p.*294fs	NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1741_1742	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	294						Frame_Shift_Ins	INS	ENST00000322348.4	37	c.880_881insC	CCDS4026.1																																																																																				0.366	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		34	301						34	301	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123984683	123984684	+	Frame_Shift_Ins	INS	-	-	C	rs565938874		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:123984683_123984684insC	ENST00000306315.5	-	4	1828_1829	c.1393_1394insG	c.(1393-1395)gccfs	p.A465fs	ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.A38fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	465							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTCCCATTGGCCCCCCCTCTG	0.629																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1393-1395)caafs		zinc finger protein 608																																				SO:0001589	frameshift_variant	57507					intracellular	zinc ion binding	g.chr5:123984683_123984684insC	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1394dupG	5.37:g.123984690_123984690dupC	ENSP00000307746:p.Ala465fs					ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.Q38fs	p.Q465fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	1828_1829	-		all_cancers(142;0.186)|Prostate(80;0.081)	465					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Frame_Shift_Ins	INS	ENST00000306315.5	37	c.1393_1394insG	CCDS34219.1																																																																																				0.629	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		9	291						9	291	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127599161	127599162	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:127599161_127599162insC	ENST00000508053.1	-	69	9121_9122	c.8147_8148insG	c.(8146-8148)ggcfs	p.G2716fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.G2716fs			P35556	FBN2_HUMAN	fibrillin 2	2716	EGF-like 47; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACAGAGGTAGCCCCCCTCCGT	0.574																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(8146-8148)gtafs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127599161_127599162insC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.8148dupG	5.37:g.127599167_127599167dupC	ENSP00000424571:p.Gly2716fs					FBN2_ENST00000262464.4_Frame_Shift_Ins_p.V2716fs	p.V2716fs			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	69	9121_9122	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2716			EGF-like 47; calcium-binding.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.8147_8148insG	CCDS34222.1																																																																																				0.574	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		9	314						9	314	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)gggtttfs	p.F2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.F2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(7657-7662)ggttacfs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127610310_127610311insC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7660dupG	5.37:g.127610317_127610317dupC	ENSP00000424571:p.Phe2554fs					FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs	p.Y2554fs			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	66	8633_8634	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2554			EGF-like 43; calcium-binding.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.7659_7660insG	CCDS34222.1																																																																																				0.421	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		11	343						11	343	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cctfs	p.P1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.P1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505																																						ENST00000508053.1																			2	Substitution - coding silent(2)	p.P1623P(2)	lung(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4867-4869)cgtfs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648336_127648337insG	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4869dupC	5.37:g.127648342_127648342dupG	ENSP00000424571:p.Pro1623fs					FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs	p.R1623fs			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	43	5842_5843	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1623			TB 6.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.4868_4869insC	CCDS34222.1																																																																																				0.505	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		14	1219						14	1219	---	---	---	---
PSD2	84249	broad.mit.edu	37	5	139193287	139193288	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:139193287_139193288insG	ENST00000274710.3	+	3	970_971	c.765_766insG	c.(766-768)gggfs	p.G256fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	256					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGGCCCAGGGGGGGATGA	0.614																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(763-768)ccggggfs		pleckstrin and Sec7 domain containing 2																																				SO:0001589	frameshift_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139193287_139193288insG	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.772dupG	5.37:g.139193294_139193294dupG	ENSP00000274710:p.Gly256fs						p.PG255fs	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	970_971	+			255					D3DQD3|Q8N3J8	Frame_Shift_Ins	INS	ENST00000274710.3	37	c.765_766insG	CCDS4216.1																																																																																				0.614	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		7	213						7	213	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140588663	140588664	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:140588663_140588664insG	ENST00000239450.2	+	1	373_374	c.184_185insG	c.(184-186)cggfs	p.R62fs	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTCTTCGCGGGGGGCTCGG	0.51																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(184-186)gggfs						0,4264		0,0,2132						0.4	0.0			90	1,8253		0,1,4126	no	frameshift	PCDHB12	NM_018932.3		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140588663_140588664insG	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.190dupG	5.37:g.140588669_140588669dupG	ENSP00000239450:p.Arg62fs					PCDHB12_ENST00000541609.1_Intron	p.G62fs	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	373_374	+			62			Cadherin 1.		B4DDU1	Frame_Shift_Ins	INS	ENST00000239450.2	37	c.184_185insG	CCDS4254.1																																																																																				0.510	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		8	245						8	245	---	---	---	---
PCDHGC3	5098	broad.mit.edu	37	5	140857727	140857728	+	Frame_Shift_Ins	INS	-	-	C	rs201111122		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:140857727_140857728insC	ENST00000308177.3	+	1	2148_2149	c.2044_2045insC	c.(2044-2046)gccfs	p.A682fs	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	682	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGGCTCTGCCCCCCGGGAG	0.515											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(2044-2046)cccfs																																						SO:0001589	frameshift_variant	5098							g.chr5:140857727_140857728insC	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.2050dupC	5.37:g.140857733_140857733dupC	ENSP00000312070:p.Ala682fs		OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.P682fs	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2148_2149	+								O60622|Q08192|Q9Y5C4	Frame_Shift_Ins	INS	ENST00000308177.3	37	c.2044_2045insC	CCDS4261.1																																																																																				0.515	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		7	306						7	306	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)gggaggfs	p.R763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.R665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.R425fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2284-2289)ggggatfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049341_141049342insC	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2287dupG	5.37:g.141049347_141049347dupC	ENSP00000239440:p.Arg763fs					ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs	p.D763fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			16	2351_2352	-			763					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2286_2287insG	CCDS4266.1																																																																																				0.579	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		16	872						16	872	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)ccafs	p.P743fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	743					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGTCAGTGGGTGGGGGGCTCAC	0.564																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2227-2229)cccfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049509_141049510insG	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2229dupC	5.37:g.141049515_141049515dupG	ENSP00000239440:p.Pro743fs					ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs	p.P743fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			15	2293_2294	-			743					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2228_2229insC	CCDS4266.1																																																																																				0.564	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		9	996						9	996	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G	rs199646351		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)cccaagfs	p.K224fs	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.48																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(667-672)ccagtcfs		protocadherin 12				5,4259		0,5,2127						5.1	1.0			79	6,8238		0,6,4116	no	frameshift	PCDH12	NM_016580.2		0,11,6243	A1A1,A1R,RR		0.0728,0.1173,0.0879				11,12497				SO:0001589	frameshift_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336747_141336748insG	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.670dupC	5.37:g.141336754_141336754dupG	ENSP00000231484:p.Lys224fs						p.V224fs	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1879_1880	-		all_hematologic(541;0.0999)	224			Cadherin 2.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Frame_Shift_Ins	INS	ENST00000231484.3	37	c.669_670insC	CCDS4269.1																																																																																				0.480	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		27	516						27	516	---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)ggcfs	p.G397fs	PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.G403fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.G463fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.G455fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.G400fs|PPP2R2B_ENST00000530902.1_5'UTR			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.5																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(1189-1191)gaafs		protein phosphatase 2, regulatory subunit B, beta																																				SO:0001589	frameshift_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145969651_145969652insC	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1191dupG	5.37:g.145969657_145969657dupC	ENSP00000377935:p.Gly397fs					PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs	p.E397fs			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1760_1761	-			397					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Frame_Shift_Ins	INS	ENST00000394413.3	37	c.1190_1191insG	CCDS4284.1																																																																																				0.500	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		11	882						11	882	---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149755744	149755745	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:149755744_149755745insC	ENST00000504761.2	+	13	1993_1994	c.1993_1994insC	c.(1993-1995)gccfs	p.A665fs	TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.A588fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000451292.1_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.A588fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.A665fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	665			A -> P (in dbSNP:rs2071240). {ECO:0000269|PubMed:15019983, ECO:0000269|PubMed:8563749, ECO:0000269|PubMed:9074926, ECO:0000269|PubMed:9096354}.		skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCACCCAAGCCCCCCGGAAA	0.584																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1993-1995)cccfs		Treacher Collins-Franceschetti syndrome 1																																				SO:0001589	frameshift_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755744_149755745insC		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1999dupC	5.37:g.149755750_149755750dupC	ENSP00000421655:p.Ala665fs					TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.P665fs	p.P665fs			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2101_2102	+		all_hematologic(541;0.224)	665		A -> P (in dbSNP:rs2071240).			A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Frame_Shift_Ins	INS	ENST00000504761.2	37	c.1993_1994insC	CCDS54936.1																																																																																				0.584	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		9	454						9	454	---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804|rs199716249	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:156915296_156915297insG	ENST00000517905.1	-	21	2570_2571	c.2526_2527insC	c.(2524-2529)cccgcafs	p.A843fs	ADAM19_ENST00000257527.4_Frame_Shift_Ins_p.A843fs|ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.A576fs|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.A845fs			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	843					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATTTGGTGCGGGGGGAATTG	0.564																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2524-2529)cccaccfs		ADAM metallopeptidase domain 19																																				SO:0001589	frameshift_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156915296_156915297insG	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2527dupC	5.37:g.156915302_156915302dupG	ENSP00000428654:p.Ala843fs					ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.T843fs|ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.T576fs|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.T845fs	p.T843fs	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2604_2605	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	843					Q9BZL5|Q9UHP2	Frame_Shift_Ins	INS	ENST00000517905.1	37	c.2526_2527insC																																																																																					0.564	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		7	576						7	576	---	---	---	---
GABRA6	2559	broad.mit.edu	37	5	161116011	161116012	+	Frame_Shift_Ins	INS	-	-	G	rs143274925		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:161116011_161116012insG	ENST00000274545.5	+	4	715_716	c.282_283insG	c.(283-285)gggfs	p.G95fs	GABRA6_ENST00000523217.1_Frame_Shift_Ins_p.G85fs|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	95					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GGTTGAAGTTTGGGGGGCCAAC	0.406										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(250-255)ttggggfs		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)																																			SO:0001589	frameshift_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116011_161116012insG		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.288dupG	5.37:g.161116017_161116017dupG	ENSP00000274545:p.Gly95fs	TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Frame_Shift_Ins_p.LG94fs|RP11-348M17.2_ENST00000521984.1_RNA	p.LG84fs	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	494_495	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	94					A8K096|Q4VAV2	Frame_Shift_Ins	INS	ENST00000274545.5	37	c.252_253insG	CCDS4356.1																																																																																				0.406	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			11	556						11	556	---	---	---	---
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)cccaagfs	p.K274fs	KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.K274fs|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.K255fs|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_5'UTR	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	274						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579																																						ENST00000298569.4																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(817-822)ccagatfs		KIAA1191																																				SO:0001589	frameshift_variant	57179						protein binding	g.chr5:175774701_175774702insG	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.820dupC	5.37:g.175774707_175774707dupG	ENSP00000298569:p.Lys274fs					KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs	p.D274fs	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	9	1352_1353	-	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	274					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Frame_Shift_Ins	INS	ENST00000298569.4	37	c.819_820insC	CCDS4399.1																																																																																				0.579	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		12	482						12	482	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Intron	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:10557409_10557410insC	ENST00000379597.3	+	1	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Frame_Shift_Ins_p.P252fs|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(751-756)ccccccfs		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)																																				SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10557409_10557410insC	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27340->C	6.37:g.10557416_10557416dupC						GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron	p.PP251fs	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1170_1171	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	253						Frame_Shift_Ins	INS	ENST00000379597.3	37	c.753_754insC	CCDS34338.1																																																																																				0.485	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		13	327						13	327	---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12121132	12121133	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:12121132_12121133insC	ENST00000379388.2	+	4	1436_1437	c.1104_1105insC	c.(1105-1107)cccfs	p.P369fs		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	369					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTACACAGTCGCCCCCCATGCC	0.421																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(1102-1107)tcccccfs		human immunodeficiency virus type I enhancer binding protein 1																																				SO:0001589	frameshift_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12121132_12121133insC	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.1110dupC	6.37:g.12121138_12121138dupC	ENSP00000368698:p.Pro369fs						p.SP368fs	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	1436_1437	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	368					B2RTU3|Q14122|Q5MPB1|Q5VW60	Frame_Shift_Ins	INS	ENST00000379388.2	37	c.1104_1105insC	CCDS43426.1																																																																																				0.421	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		7	483						7	483	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-756)gtggggfs	p.VG251fs	PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.VG251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.VG106fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(751-753)gggfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206134_13206135insG	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.759dupG	6.37:g.13206141_13206141dupG	ENSP00000368655:p.Val251fs					PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron	p.G251fs			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	881_882	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	251					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379350.1	37	c.752_753insG																																																																																					0.599	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		7	164						7	164	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)gcafs	p.A324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.A77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(970-972)agcfs		doublecortin domain containing 2			,	0,4262		0,0,2131					,	6.1	1.0			246	1,8253		0,1,4126	no	frameshift,frameshift	DCDC2	NM_016356.3,NM_001195610.1	,	0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12515				SO:0001589	frameshift_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205282_24205283insC	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.971dupG	6.37:g.24205288_24205288dupC	ENSP00000367715:p.Ala324fs					DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	p.S324fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN			8	1271_1272	-		Ovarian(999;0.101)	324					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Frame_Shift_Ins	INS	ENST00000378454.3	37	c.970_971insG	CCDS4550.1																																																																																				0.411	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		19	1153						19	1153	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:29627216_29627217insC	ENST00000376917.3	+	2	438_439	c.209_210insC	c.(208-213)cgccccfs	p.RP70fs	MOG_ENST00000396701.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000376894.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000396704.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000431798.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.RP70fs	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569																																						ENST00000376894.4																			1	Deletion - Frameshift(1)	p.F73fs*29(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(208-210)cccfs		myelin oligodendrocyte glycoprotein																																				SO:0001589	frameshift_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627216_29627217insC		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.216dupC	6.37:g.29627223_29627223dupC	ENSP00000366115:p.Arg70fs					MOG_ENST00000483013.1_Intron|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs	p.P70fs			Q16653	MOG_HUMAN			2	327_328	+			70			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Frame_Shift_Ins	INS	ENST00000376917.3	37	c.209_210insC	CCDS34370.1																																																																																				0.569	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		7	256						7	256	---	---	---	---
DDR1	780	broad.mit.edu	37	6	30867830	30867831	+	3'UTR	INS	-	-	G	rs6933271	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:30867830_30867831insG	ENST00000324771.8	+	0	4047_4048				DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000361741.4_Frame_Shift_Ins_p.W433fs|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000452441.1_3'UTR|DDR1_ENST00000376569.3_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1						branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGTACATTTTTGGGGGGAGAGA	0.441																																						ENST00000361741.4																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(1297-1299)gggfs		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)																																			SO:0001624	3_prime_UTR_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30867830_30867831insG	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.*758->G	6.37:g.30867836_30867836dupG						DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000376569.3_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000324771.8_3'UTR|DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000452441.1_3'UTR	p.G433fs			Q08345	DDR1_HUMAN			12	1492_1493	+			0					B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Frame_Shift_Ins	INS	ENST00000324771.8	37	c.1297_1298insG	CCDS34385.1																																																																																				0.441	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		8	451						8	451	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692528	31692529	+	5'Flank	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:31692528_31692529insC	ENST00000375819.2	-	0	0				DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375809.3_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.P153fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000480039.1_Intron	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TTCAGCTCTGTCCCCCCCACAT	0.579																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(547-549)cccfs		chromosome 6 open reading frame 25			,,,,,	3,4261		0,3,2129					,,,,,	1.1	1.0			67	4,8248		0,4,4122	no	frameshift,intron,frameshift,frameshift,intron,frameshift	C6orf25	NM_138277.2,NM_138275.2,NM_138274.2,NM_138273.2,NM_138272.2,NM_025260.3	,,,,,	0,7,6251	A1A1,A1R,RR		0.0485,0.0704,0.0559	,,,,,	,,,,,		7,12509				SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692528_31692529insC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692535_31692535dupC	Exception_encountered					C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs	p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN			5	558_559	+			0					Q5SRS8|Q8IY94	Frame_Shift_Ins	INS	ENST00000375819.2	37	c.547_548insC	CCDS4714.1																																																																																				0.579	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			9	319						9	319	---	---	---	---
RING1	6015	broad.mit.edu	37	6	33178989	33178990	+	Frame_Shift_Ins	INS	-	-	G	rs572254268	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:33178989_33178990insG	ENST00000374656.4	+	5	718_719	c.510_511insG	c.(511-513)gggfs	p.G171fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	171	Necessary for transcriptional repression. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAACGATGAGTGGGGGGGAAGG	0.619																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(508-513)agggggfs		ring finger protein 1																																				SO:0001589	frameshift_variant	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33178989_33178990insG		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.517dupG	6.37:g.33178996_33178996dupG	ENSP00000363787:p.Gly171fs					RING1_ENST00000478431.1_3'UTR	p.RG170fs	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN			5	718_719	+			170			Necessary for transcriptional repression (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Frame_Shift_Ins	INS	ENST00000374656.4	37	c.510_511insG	CCDS34424.1																																																																																				0.619	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			12	329						12	329	---	---	---	---
SYNGAP1	8831	broad.mit.edu	37	6	33405504	33405505	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:33405504_33405505insC	ENST00000418600.2	+	8	923_924	c.822_823insC	c.(823-825)cccfs	p.P275fs	SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.P275fs|SYNGAP1_ENST00000496374.1_3'UTR|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.P216fs	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	275	C2.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCCGGGAGCTGCCCCCCAAGAA	0.599																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(820-825)ctccccfs		synaptic Ras GTPase activating protein 1																																				SO:0001589	frameshift_variant	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33405504_33405505insC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.828dupC	6.37:g.33405510_33405510dupC	ENSP00000403636:p.Pro275fs					SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.LP274fs|SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.LP215fs|SYNGAP1_ENST00000496374.1_3'UTR	p.LP274fs	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			8	923_924	+			274			C2.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Frame_Shift_Ins	INS	ENST00000418600.2	37	c.822_823insC	CCDS34434.2																																																																																				0.599	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		11	264						11	264	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C	rs587778337		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)gccfs	p.A308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.54			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""N, F, S"""	"""Fanconi anemia, complementation group E"""			L		"""AML, leukemia"""			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(922-924)cccfs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E				16,4248		0,16,2116						-5.8	0.0		dbSNP_130	75	14,8240		0,14,4113	no	frameshift	FANCE	NM_021922.2		0,30,6229	A1A1,A1R,RR		0.1696,0.3752,0.2397				30,12488				SO:0001589	frameshift_variant	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35425714_35425715insC	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.929dupC	6.37:g.35425721_35425721dupC	ENSP00000229769:p.Ala308fs						p.P308fs	NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN			4	1107_1108	+			308			Interaction with FANCC.		A8K907|Q4ZGH2	Frame_Shift_Ins	INS	ENST00000229769.2	37	c.922_923insC	CCDS4805.1																																																																																				0.540	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			12	124						12	124	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:87725846_87725847insC	ENST00000305344.5	+	2	1497_1498	c.794_795insC	c.(793-798)atccccfs	p.IP265fs		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCCATCAGGATCCCCCCCTTCG	0.51																																						ENST00000305344.4																			1	Insertion - Frameshift(1)	p.F268fs*4(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(793-795)accfs		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)																																			SO:0001589	frameshift_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725846_87725847insC		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.801dupC	6.37:g.87725853_87725853dupC	ENSP00000307766:p.Ile265fs					HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	p.T265fs	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1497_1498	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	265					E1P503|Q9P1Y1	Frame_Shift_Ins	INS	ENST00000305344.5	37	c.794_795insC	CCDS5006.1																																																																																				0.510	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		14	550						14	550	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117714408	117714409	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:117714408_117714409insT	ENST00000368508.3	-	11	1438_1439	c.1240_1241insA	c.(1240-1242)attfs	p.I414fs	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Frame_Shift_Ins_p.I423fs	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	414					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATCAGCCACAATTTTTTGAGGT	0.347			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(1240-1242)tgtfs		c-ros oncogene 1 , receptor tyrosine kinase																																				SO:0001589	frameshift_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117714408_117714409insT	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1241dupA	6.37:g.117714414_117714414dupT	ENSP00000357494:p.Ile414fs					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Frame_Shift_Ins_p.C423fs	p.C414fs	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	11	1438_1439	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	414					Q15368|Q5TDB5	Frame_Shift_Ins	INS	ENST00000368508.3	37	c.1240_1241insA	CCDS5116.1																																																																																				0.347	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			7	885						7	885	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gcafs		KIAA0408			,	4,4260		0,4,2128					,	1.5	0.5			231	7,8247		0,7,4120	no	frameshift,utr-3	KIAA0408,C6orf174	NM_014702.4,NM_001012279.2	,	0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879	,	,		11,12507				SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767595_127767596insC	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1869dupG	6.37:g.127767602_127767602dupC	ENSP00000435150:p.Gly623fs					SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.A623fs	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204_2205	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Ins	INS	ENST00000483725.3	37	c.1868_1869insG	CCDS34531.1																																																																																				0.401	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		11	352						11	352	---	---	---	---
ENPP3	5169	broad.mit.edu	37	6	132006590	132006591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:132006590_132006591insC	ENST00000414305.1	+	14	1535_1536	c.1207_1208insC	c.(1207-1209)gccfs	p.A403fs	ENPP3_ENST00000358229.5_Frame_Shift_Ins_p.A403fs|ENPP3_ENST00000357639.3_Frame_Shift_Ins_p.A403fs			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	403	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CGAAGGGCCTGCCCCCCGCATC	0.361																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1207-1209)cccfs		ectonucleotide pyrophosphatase/phosphodiesterase 3																																				SO:0001589	frameshift_variant	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132006590_132006591insC	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1213dupC	6.37:g.132006596_132006596dupC	ENSP00000406261:p.Ala403fs					ENPP3_ENST00000358229.5_Frame_Shift_Ins_p.P403fs|ENPP3_ENST00000357639.3_Frame_Shift_Ins_p.P403fs	p.P403fs			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	14	1535_1536	+	Breast(56;0.0753)		403			Phosphodiesterase.		Q5JTL3	Frame_Shift_Ins	INS	ENST00000414305.1	37	c.1207_1208insC	CCDS5148.1																																																																																				0.361	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			10	268						10	268	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)tggfs	p.W360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.W360fs	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1078-1080)gggfs		eukaryotic translation initiation factor 3, subunit B																																				SO:0001589	frameshift_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2404085_2404086insG	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1085dupG	7.37:g.2404092_2404092dupG	ENSP00000354125:p.Trp360fs					EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	p.G360fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	6	1134_1135	+		Ovarian(82;0.0253)	360			Sufficient for interaction with EIF3E.			Frame_Shift_Ins	INS	ENST00000360876.4	37	c.1078_1079insG	CCDS5332.1																																																																																				0.475	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			8	228						8	228	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6759412	6759413	+	RNA	INS	-	-	G	rs554628923	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:6759412_6759413insG	ENST00000486256.1	+	0	346					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		GTGTGCCTCCCGGGGGGGAGGT	0.569																																						ENST00000486256.1																			0																																																			441194							g.chr7:6759412_6759413insG	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6759419_6759419dupG								NR_002217.1						0	346	+								B4DK88|Q764P1	RNA	INS	ENST00000486256.1	37																																																																																						0.569	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		11	147						11	147	---	---	---	---
ETV1	2115	broad.mit.edu	37	7	13975472	13975473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:13975472_13975473insG	ENST00000430479.1	-	8	1081_1082	c.414_415insC	c.(412-417)cccacafs	p.T139fs	ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000343495.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000476720.2_5'UTR	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	139					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGGATGGTGTGGGGGGGTTGG	0.53			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(358-363)cccaccfs		ets variant 1																																				SO:0001589	frameshift_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13975472_13975473insG		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.415dupC	7.37:g.13975479_13975479dupG	ENSP00000405327:p.Thr139fs					ETV1_ENST00000399357.3_Intron|ETV1_ENST00000430479.1_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs	p.T121fs			P50549	ETV1_HUMAN			7	1098_1099	-			139					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Frame_Shift_Ins	INS	ENST00000430479.1	37	c.360_361insC	CCDS55088.1																																																																																				0.530	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		8	232						8	232	---	---	---	---
DFNA5	1687	broad.mit.edu	37	7	24784270	24784271	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:24784270_24784271insC	ENST00000342947.3	-	3	739_740	c.314_315insG	c.(313-315)ggcfs	p.G105fs	DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000409775.3_Frame_Shift_Ins_p.G105fs	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	105					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CGCGGCTGCTGCCCCCCAGGTT	0.559																																					GBM(78;184 1250 20134 20900 23600)	ENST00000342947.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(313-315)gagfs		deafness, autosomal dominant 5																																				SO:0001589	frameshift_variant	1687				sensory perception of sound			g.chr7:24784270_24784271insC	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.315dupG	7.37:g.24784276_24784276dupC	ENSP00000339587:p.Gly105fs					DFNA5_ENST00000409775.3_Frame_Shift_Ins_p.E105fs|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR	p.E105fs	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN			3	739_740	-			105					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Frame_Shift_Ins	INS	ENST00000342947.3	37	c.314_315insG	CCDS5389.1																																																																																				0.559	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		8	276						8	276	---	---	---	---
OSBPL3	26031	broad.mit.edu	37	7	24870394	24870395	+	Frame_Shift_Ins	INS	-	-	A	rs35793413		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:24870394_24870395insA	ENST00000313367.2	-	16	2327_2328	c.1876_1877insT	c.(1876-1878)tcafs	p.S626fs	OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.S559fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.S559fs|OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.S590fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.S595fs|OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.S590fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.S595fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	626					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TACCTGTTCTGAAAAAAACTGG	0.421																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1876-1878)agafs		oxysterol binding protein-like 3																																				SO:0001589	frameshift_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24870394_24870395insA	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1877dupT	7.37:g.24870401_24870401dupA	ENSP00000315410:p.Ser626fs					OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.R559fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.R595fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.R595fs|OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.R590fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.R559fs|OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.R590fs	p.R626fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			16	2327_2328	-			626					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Frame_Shift_Ins	INS	ENST00000313367.2	37	c.1876_1877insT	CCDS5390.1																																																																																				0.421	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			12	1015						12	1015	---	---	---	---
EPDR1	54749	broad.mit.edu	37	7	37988587	37988588	+	Frame_Shift_Ins	INS	-	-	T	rs145911941		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:37988587_37988588insT	ENST00000199448.4	+	2	794_795	c.415_416insT	c.(415-417)atcfs	p.I139fs	EPDR1_ENST00000425345.1_Frame_Shift_Ins_p.I78fs|EPDR1_ENST00000559325.1_Frame_Shift_Ins_p.I259fs|EPDR1_ENST00000476620.1_Frame_Shift_Ins_p.I37fs|EPDR1_ENST00000423717.1_Intron	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	139					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCAGTACTCCATCGGGGGGCCT	0.51																																						ENST00000199448.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(415-417)cggfs		ependymin related 1																																				SO:0001589	frameshift_variant	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37988587_37988588insT	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.416dupT	7.37:g.37988588_37988588dupT	ENSP00000199448:p.Ile139fs					EPDR1_ENST00000476620.1_Frame_Shift_Ins_p.R37fs|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000425345.1_Frame_Shift_Ins_p.R78fs|EPDR1_ENST00000559325.1_Frame_Shift_Ins_p.R259fs	p.R139fs	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN			2	794_795	+			139					A8K4C0|C9JYS3|Q06BL0|Q99M77	Frame_Shift_Ins	INS	ENST00000199448.4	37	c.415_416insT	CCDS5454.2																																																																																				0.510	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		8	589						8	589	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11244)atggggfs	p.MG3747fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.MG3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.MG3693fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11239-11241)aggfs		A kinase (PRKA) anchor protein 9																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91732038_91732039insG	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11247dupG	7.37:g.91732045_91732045dupG	ENSP00000351922:p.Met3747fs					AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs	p.R3747fs			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		46	11465_11466	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3747					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Ins	INS	ENST00000359028.2	37	c.11240_11241insG																																																																																					0.535	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		25	350						25	350	---	---	---	---
HEPACAM2	253012	broad.mit.edu	37	7	92838073	92838074	+	Frame_Shift_Ins	INS	-	-	G	rs201059129		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:92838073_92838074insG	ENST00000394468.2	-	4	908_909	c.831_832insC	c.(829-834)cccaacfs	p.N278fs	HEPACAM2_ENST00000341723.4_Frame_Shift_Ins_p.N266fs|HEPACAM2_ENST00000453812.2_Frame_Shift_Ins_p.N301fs|HEPACAM2_ENST00000440868.1_Frame_Shift_Ins_p.N266fs	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	278	Ig-like C2-type 2.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GAGTAGGTGTTGGGGGGATGAG	0.431																																						ENST00000394468.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(829-834)ccacacfs		HEPACAM family member 2																																				SO:0001589	frameshift_variant	253012					integral to membrane		g.chr7:92838073_92838074insG	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.832dupC	7.37:g.92838079_92838079dupG	ENSP00000377980:p.Asn278fs					HEPACAM2_ENST00000341723.4_Frame_Shift_Ins_p.H266fs|HEPACAM2_ENST00000453812.2_Frame_Shift_Ins_p.H301fs|HEPACAM2_ENST00000440868.1_Frame_Shift_Ins_p.H266fs	p.H278fs	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN			4	908_909	-			278			Ig-like C2-type 2.		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Frame_Shift_Ins	INS	ENST00000394468.2	37	c.831_832insC	CCDS43616.1																																																																																				0.431	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		8	456						8	456	---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1005)agccccfs	p.SP334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569																																						ENST00000332397.6																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1000-1002)accfs		speedy/RINGO cell cycle regulator family member E3																																				SO:0001589	frameshift_variant	441272							g.chr7:99912173_99912174insC	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1007dupC	7.37:g.99912179_99912179dupC	ENSP00000329565:p.Ser334fs					SPDYE3_ENST00000437326.2_5'UTR	p.T334fs	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			6	1185_1186	+			334					Q495Y9|Q6PHC4	Frame_Shift_Ins	INS	ENST00000332397.6	37	c.1001_1002insC	CCDS47658.2																																																																																				0.569	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		17	932						17	932	---	---	---	---
SRRT	51593	broad.mit.edu	37	7	100479331	100479332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:100479331_100479332insG	ENST00000347433.4	+	4	461_462	c.303_304insG	c.(304-306)gggfs	p.G102fs	SRRT_ENST00000457580.2_Frame_Shift_Ins_p.G102fs|SRRT_ENST00000388793.4_Frame_Shift_Ins_p.G102fs|SRRT_ENST00000432932.1_Frame_Shift_Ins_p.G102fs			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	102					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGCCCTATGCTGGGGGGGGTGG	0.609																																						ENST00000388793.4																			1	Deletion - Frameshift(1)	p.G104fs*45(1)	ovary(1)	breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(301-306)gcggggfs		serrate RNA effector molecule homolog (Arabidopsis)																																				SO:0001589	frameshift_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100479331_100479332insG		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.311dupG	7.37:g.100479339_100479339dupG	ENSP00000314491:p.Gly102fs					SRRT_ENST00000457580.2_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000347433.4_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000432932.1_Frame_Shift_Ins_p.AG101fs	p.AG101fs	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			4	523_524	+			101					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Frame_Shift_Ins	INS	ENST00000347433.4	37	c.303_304insG	CCDS34709.1																																																																																				0.609	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		18	194						18	194	---	---	---	---
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G	rs571529719		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-360)atggggfs	p.MG119fs	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564																																						ENST00000337619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8						c.(355-357)aggfs		adaptor-related protein complex 1, sigma 1 subunit																																				SO:0001589	frameshift_variant	1174				intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity	g.chr7:100802404_100802405insG	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.364dupG	7.37:g.100802412_100802412dupG	ENSP00000336666:p.Met119fs						p.R119fs	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN			4	474_475	+	Lung NSC(181;0.168)|all_lung(186;0.215)		119					B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Frame_Shift_Ins	INS	ENST00000337619.5	37	c.356_357insG	CCDS47669.1																																																																																				0.564	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		12	178						12	178	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3382-3384)cccfs	p.P1128fs	CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.P420fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.P489fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.P408fs	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1128						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.52																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(3379-3384)aaccccfs		coiled-coil domain containing 136																																				SO:0001589	frameshift_variant	64753					integral to membrane	protein binding	g.chr7:128457829_128457830insC		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3387dupC	7.37:g.128457835_128457835dupC	ENSP00000297788:p.Pro1128fs					CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs	p.NP1127fs	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			17	3748_3749	+			1127					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Frame_Shift_Ins	INS	ENST00000297788.4	37	c.3381_3382insC	CCDS47704.1																																																																																				0.520	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		8	1554						8	1554	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131831324	131831325	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:131831324_131831325insC	ENST00000359827.3	-	28	5961_5962	c.4999_5000insG	c.(4999-5001)gacfs	p.D1667fs	PLXNA4_ENST00000321063.4_Frame_Shift_Ins_p.D1667fs			Q9HCM2	PLXA4_HUMAN	plexin A4	1667					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTCCCCCGGTCCCCCTCCTTC	0.574																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(4999-5001)ccgfs		plexin A4																																				SO:0001589	frameshift_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131831324_131831325insC	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5000dupG	7.37:g.131831329_131831329dupC	ENSP00000352882:p.Asp1667fs					PLXNA4_ENST00000321063.4_Frame_Shift_Ins_p.P1667fs	p.P1667fs			Q9HCM2	PLXA4_HUMAN			28	5961_5962	-			1667					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Frame_Shift_Ins	INS	ENST00000359827.3	37	c.4999_5000insG	CCDS43646.1																																																																																				0.574	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		7	1845						7	1845	---	---	---	---
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C	rs574092449|rs372744309	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160									T cell receptor beta variable 4-2																		TTTGTCCCTTTCCCCCCGCAGT	0.485																																						ENST00000390392.3																			0																																																			28616							g.chr7:142045511_142045512insC	U07975		7q34	2012-02-07			ENSG00000211745	ENSG00000211745		"""T cell receptors / TRB locus"""	12216	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV42, TCRBV4S2, TCRBV7S3A2T			OTTHUMG00000158525		7.37:g.142045517_142045517dupC														0	160	+									RNA	INS	ENST00000390392.3	37																																																																																						0.485	TRBV4-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351231.1	NG_001333		7	536						7	536	---	---	---	---
TRBV7-8	28590	broad.mit.edu	37	7	142099644	142099645	+	RNA	INS	-	-	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:142099644_142099645insA	ENST00000390359.3	-	0	195_196									T cell receptor beta variable 7-8																		CTGTTGGTACCAAAAAAGGGAT	0.515																																						ENST00000390359.3																			0																																																			28590							g.chr7:142099644_142099645insA	M11953		7q34	2012-02-07			ENSG00000229200			"""T cell receptors / TRB locus"""	12242	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV78, TCRBV6S2A1N1T, TCRBV7S8			OTTHUMG00000158875		7.37:g.142099650_142099650dupA														0	195_196	-									RNA	INS	ENST00000390359.3	37																																																																																						0.515	TRBV7-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352483.1	NG_001333		7	306						7	306	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)gggccafs	p.P424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1267-1272)ggcattfs		transient receptor potential cation channel, subfamily V, member 5				0,4264		0,0,2132						4.4	0.1			148	2,8252		0,2,4125	no	frameshift	TRPV5	NM_019841.4		0,2,6257	A1A1,A1R,RR		0.0242,0.0,0.016				2,12516				SO:0001589	frameshift_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142612493_142612494insC	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1270dupG	7.37:g.142612499_142612499dupC	ENSP00000265310:p.Pro424fs						p.I424fs	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			10	1617_1618	-	Melanoma(164;0.059)		424					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Frame_Shift_Ins	INS	ENST00000265310.1	37	c.1269_1270insG	CCDS5875.1																																																																																				0.505	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		7	612						7	612	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4654-4656)cccfs		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)																																				SO:0001589	frameshift_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68128855_68128856insG	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4656dupC	8.37:g.68128862_68128862dupG	ENSP00000262215:p.Pro1552fs					ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	p.P1552fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		33	5044_5045	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1552					Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Ins	INS	ENST00000262215.3	37	c.4655_4656insC	CCDS6199.1																																																																																				0.421	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		7	173						7	173	---	---	---	---
ASAP1	50807	broad.mit.edu	37	8	131124498	131124499	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr8:131124498_131124499insG	ENST00000518721.1	-	24	2469_2470	c.2242_2243insC	c.(2242-2244)cagfs	p.Q748fs	ASAP1_ENST00000357668.1_Frame_Shift_Ins_p.Q748fs	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	748					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CAGCTTGTCCTGGGGGGAGATG	0.535																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2242-2244)ggafs		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1																																				SO:0001589	frameshift_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131124498_131124499insG	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2243dupC	8.37:g.131124504_131124504dupG	ENSP00000429900:p.Gln748fs					ASAP1_ENST00000518721.1_Frame_Shift_Ins_p.G748fs	p.G748fs			Q9ULH1	ASAP1_HUMAN			23	2269_2270	-			748					B2RNV3	Frame_Shift_Ins	INS	ENST00000518721.1	37	c.2242_2243insC	CCDS6362.1																																																																																				0.535	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		7	124						7	124	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18829842	18829843	+	Splice_Site	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:18829842_18829843insC	ENST00000380548.4	+	23	4455_4456	c.4116_4117insC	c.(4117-4119)ccc>Cccc	p.P1373fs	ADAMTSL1_ENST00000380545.5_Splice_Site_p.P74fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1373						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCTCACAGATCCCCCCCAAGT	0.564																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.e23-1		ADAMTS-like 1																																				SO:0001630	splice_region_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18829842_18829843insC	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4115-1->C	9.37:g.18829849_18829849dupC						ADAMTSL1_ENST00000380545.5_Splice_Site_p.DP73_splice	p.DP1372_splice	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	23	4455_4456	+			1372					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Splice_Site	INS	ENST00000380548.4	37	c.4114_splice	CCDS47954.1																																																																																				0.564	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		Frame_Shift_Ins	10	188						10	188	---	---	---	---
TEK	7010	broad.mit.edu	37	9	27204925	27204926	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:27204925_27204926insG	ENST00000380036.4	+	14	2668_2669	c.2226_2227insG	c.(2227-2229)gggfs	p.G743fs	TEK_ENST00000519097.1_Frame_Shift_Ins_p.G596fs|TEK_ENST00000406359.4_Frame_Shift_Ins_p.G700fs	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	743					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CGGACCTCGGAGGGGGGAAGAT	0.51																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2224-2229)ggggggfs		TEK tyrosine kinase, endothelial																																				SO:0001589	frameshift_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27204925_27204926insG	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2232dupG	9.37:g.27204931_27204931dupG	ENSP00000369375:p.Gly743fs					TEK_ENST00000406359.4_Frame_Shift_Ins_p.GG699fs|TEK_ENST00000519097.1_Frame_Shift_Ins_p.GG595fs	p.GG742fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	14	2668_2669	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	742					A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Frame_Shift_Ins	INS	ENST00000380036.4	37	c.2226_2227insG	CCDS6519.1																																																																																				0.510	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			16	511						16	511	---	---	---	---
UBAP2	55833	broad.mit.edu	37	9	33923478	33923479	+	Splice_Site	INS	-	-	G	rs368852145		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:33923478_33923479insG	ENST00000379238.1	-	25	2914		c.e25-2		UBAP2_ENST00000539807.1_Splice_Site|UBAP2_ENST00000449054.1_Splice_Site|UBAP2_ENST00000360802.1_Splice_Site|UBAP2_ENST00000379239.4_Splice_Site|UBAP2_ENST00000379235.1_Splice_Site					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TGGAGGGACCTGGGGGGGCAAG	0.594																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.e25-2		ubiquitin associated protein 2																																				SO:0001630	splice_region_variant	55833							g.chr9:33923478_33923479insG	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2797-2->C	9.37:g.33923485_33923485dupG						UBAP2_ENST00000360802.1_Splice_Site|UBAP2_ENST00000379239.4_Splice_Site|UBAP2_ENST00000539807.1_Splice_Site|UBAP2_ENST00000379235.1_Splice_Site|UBAP2_ENST00000449054.1_Splice_Site				Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	25	2914	-									Splice_Site	INS	ENST00000379238.1	37		CCDS6547.1																																																																																				0.594	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449	Intron	22	477						22	477	---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35043649	35043650	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:35043649_35043650insC	ENST00000312292.5	+	2	1070_1071	c.1023_1024insC	c.(1024-1026)cccfs	p.P342fs	C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.P269fs|C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.P294fs|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	342										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCCGATGCCACCCCCCTGCCA	0.53																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(1021-1026)ccccccfs		chromosome 9 open reading frame 131			,,,	3,4257		0,3,2127					,,,	0.8	0.0			197	0,8242		0,0,4121	no	frameshift,frameshift,frameshift,frameshift	C9orf131	NM_203299.2,NM_001040412.1,NM_001040411.1,NM_001040410.1	,,,	0,3,6248	A1A1,A1R,RR		0.0,0.0704,0.024	,,,	,,,		3,12499				SO:0001589	frameshift_variant	138724							g.chr9:35043649_35043650insC	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1029dupC	9.37:g.35043655_35043655dupC	ENSP00000308279:p.Pro342fs					C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.PP293fs|C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.PP268fs	p.PP341fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1070_1071	+	all_epithelial(49;0.22)		341					A6NLE6|E9PB26|Q86XC6|Q9UF74	Frame_Shift_Ins	INS	ENST00000312292.5	37	c.1023_1024insC	CCDS6572.2																																																																																				0.530	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		8	1491						8	1491	---	---	---	---
TESK1	7016	broad.mit.edu	37	9	35608959	35608960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:35608959_35608960insC	ENST00000336395.5	+	10	1351_1352	c.1101_1102insC	c.(1102-1104)cccfs	p.P368fs	CD72_ENST00000490239.1_5'Flank|MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	368					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACCAGAATCACCCCCCAACTG	0.609																																						ENST00000336395.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(1099-1104)tcccccfs		testis-specific kinase 1																																				SO:0001589	frameshift_variant	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35608959_35608960insC	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1107dupC	9.37:g.35608965_35608965dupC	ENSP00000338127:p.Pro368fs					TESK1_ENST00000498522.1_3'UTR	p.SP367fs	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		10	1351_1352	+			367					Q8IXZ8	Frame_Shift_Ins	INS	ENST00000336395.5	37	c.1101_1102insC	CCDS6580.1																																																																																				0.609	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		8	396						8	396	---	---	---	---
RNF38	152006	broad.mit.edu	37	9	36353239	36353240	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:36353239_36353240insG	ENST00000259605.6	-	7	1105_1106	c.998_999insC	c.(997-999)ccafs	p.P333fs	RNF38_ENST00000377885.2_Frame_Shift_Ins_p.P250fs|RNF38_ENST00000357058.3_Frame_Shift_Ins_p.P250fs|RNF38_ENST00000350199.4_Frame_Shift_Ins_p.P250fs|RNF38_ENST00000353739.4_Frame_Shift_Ins_p.P283fs|RNF38_ENST00000377877.4_Frame_Shift_Ins_p.P257fs	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	333	Pro-rich.				male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GAGGTAATGTTGGGGGGTGGGC	0.46																																						ENST00000357058.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11						c.(748-750)cacfs		ring finger protein 38																																				SO:0001589	frameshift_variant	152006						zinc ion binding	g.chr9:36353239_36353240insG		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.999dupC	9.37:g.36353245_36353245dupG	ENSP00000259605:p.Pro333fs					RNF38_ENST00000353739.4_Frame_Shift_Ins_p.H283fs|RNF38_ENST00000377885.2_Frame_Shift_Ins_p.H250fs|RNF38_ENST00000350199.4_Frame_Shift_Ins_p.H250fs|RNF38_ENST00000259605.6_Frame_Shift_Ins_p.H333fs|RNF38_ENST00000377877.4_Frame_Shift_Ins_p.H257fs	p.H250fs	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		7	1355_1356	-			333			Pro-rich.		A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Frame_Shift_Ins	INS	ENST00000259605.6	37	c.749_750insC	CCDS6603.1																																																																																				0.460	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		8	353						8	353	---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95277236	95277237	+	Frame_Shift_Ins	INS	-	-	C	rs13297924		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:95277236_95277237insC	ENST00000344604.5	-	4	879_880	c.730_731insG	c.(730-732)gacfs	p.D244fs	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Frame_Shift_Ins_p.D222fs	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	244					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCCTCTGCTGTCCCCCTCACTG	0.525																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(730-732)cagfs		extracellular matrix protein 2, female organ and adipocyte specific																																				SO:0001589	frameshift_variant	1842				cell-matrix adhesion		integrin binding	g.chr9:95277236_95277237insC	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.731dupG	9.37:g.95277241_95277241dupC	ENSP00000344758:p.Asp244fs					CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Frame_Shift_Ins_p.Q222fs	p.Q244fs	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			4	879_880	-			244					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Frame_Shift_Ins	INS	ENST00000344604.5	37	c.730_731insG	CCDS6698.1																																																																																				0.525	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		8	1159						8	1159	---	---	---	---
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)cccaatfs	p.N151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401																																						ENST00000374865.4																			1	Substitution - coding silent(1)	p.P150P(1)	prostate(1)	large_intestine(1)|lung(2)|prostate(2)	5						c.(448-453)ccatttfs		mitochondrial ribosomal protein L50																																				SO:0001589	frameshift_variant	54534					mitochondrion|ribosome		g.chr9:104152774_104152775insG	AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.451dupC	9.37:g.104152780_104152780dupG	ENSP00000363999:p.Asn151fs					MRPL50_ENST00000539624.1_Intron	p.F151fs	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN			2	471_472	-		Acute lymphoblastic leukemia(62;0.0559)	151					B7Z358|Q5T7E0|Q9NX15	Frame_Shift_Ins	INS	ENST00000374865.4	37	c.450_451insC	CCDS6753.1																																																																																				0.401	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		7	475						7	475	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)ggcfs	p.G592fs	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGTAGGCGAAGCCCCCCCAGAC	0.54																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(1774-1776)gttfs		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107593322_107593323insC	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1776dupG	9.37:g.107593329_107593329dupC	ENSP00000363868:p.Gly592fs						p.V592fs	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	14	2169_2170	-			592					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Ins	INS	ENST00000374736.3	37	c.1775_1776insG	CCDS6762.1																																																																																				0.540	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		17	352						17	352	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5412)ttggggfs	p.LG1803fs	ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.LG648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.LG1803fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.55																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5407-5409)tggfs		zinc finger protein 462																																				SO:0001589	frameshift_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691601_109691602insG	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5414dupG	9.37:g.109691607_109691607dupG	ENSP00000277225:p.Leu1803fs					ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs	p.W1803fs			Q96JM2	ZN462_HUMAN			3	5697_5698	+			1803					Q5T0T4|Q8N408	Frame_Shift_Ins	INS	ENST00000277225.5	37	c.5408_5409insG	CCDS35096.1																																																																																				0.550	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		7	437						7	437	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs530735519|rs148674204	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)cggfs	p.R1911fs	TNC_ENST00000345230.3_Frame_Shift_Ins_p.R1274fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.R1547fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.R1365fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.R1729fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.R1274fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.R1548fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.R1638fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.R1456fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTGATGCCCGGGGGGGTCGC	0.475																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(5731-5733)ggcfs		tenascin C																																				SO:0001589	frameshift_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117797538_117797539insG		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5732dupC	9.37:g.117797545_117797545dupG	ENSP00000265131:p.Arg1911fs					TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs	p.G1911fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			22	6142_6143	-			1911			Fibronectin type-III 15.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Frame_Shift_Ins	INS	ENST00000350763.4	37	c.5731_5732insC	CCDS6811.1																																																																																				0.475	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		19	662						19	662	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)gccfs	p.A678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(2032-2034)cccfs		pregnancy-associated plasma protein A, pappalysin 1																																				SO:0001589	frameshift_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118982329_118982330insC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2038dupC	9.37:g.118982335_118982335dupC	ENSP00000330658:p.Ala678fs					PAPPA_ENST00000534838.1_Intron	p.P678fs	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			5	2401_2402	+			678					B1AMF9|Q08371|Q68G52|Q9UDK7	Frame_Shift_Ins	INS	ENST00000328252.3	37	c.2032_2033insC	CCDS6813.1																																																																																				0.574	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		7	483						7	483	---	---	---	---
ZNF79	7633	broad.mit.edu	37	9	130206998	130207012	+	In_Frame_Del	DEL	AGGCCTTCAGTTACT	AGGCCTTCAGTTACT	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:130206998_130207012delAGGCCTTCAGTTACT	ENST00000342483.5	+	5	1425_1439	c.1019_1033delAGGCCTTCAGTTACT	c.(1018-1035)aaggccttcagttactgc>agc	p.340_345KAFSYC>S	ZNF79_ENST00000543471.1_In_Frame_Del_p.316_321KAFSYC>S|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	340				C -> G (in Ref. 4; CAA46339). {ECO:0000305}.	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)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAGTGTGGGAAGGCCTTCAGTTACTGCGCAGCGTT	0.577																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(1018-1035)agc>a		zinc finger protein 79																																				SO:0001651	inframe_deletion	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130206998_130207012delAGGCCTTCAGTTACT	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1019_1033delAGGCCTTCAGTTACT	9.37:g.130206998_130207012delAGGCCTTCAGTTACT	ENSP00000362446:p.Lys340_Cys345delinsSer					ZNF79_ENST00000543471.1_In_Frame_Del_p.KAFSYC316del	p.KAFSYC340del	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1425_1439	+			340					Q5VVW1|Q96NV1	In_Frame_Del	DEL	ENST00000342483.5	37	c.1019_1033delAGGCCTTCAGTTACT	CCDS6871.1																																																																																				0.577	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		96	280						96	280	---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135785963	135785964	+	Frame_Shift_Ins	INS	-	-	G	rs369642207|rs118203506		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:135785963_135785964insG	ENST00000298552.3	-	12	1478_1479	c.1257_1258insC	c.(1255-1260)cccaggfs	p.R420fs	TSC1_ENST00000440111.2_Frame_Shift_Ins_p.R420fs|TSC1_ENST00000545250.1_Frame_Shift_Ins_p.R369fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	420					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.?(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)		CGCACCTTCCTGGGGGGTGTGA	0.559			"""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"""			1	Unknown(1)	p.?(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	GRCh37	CD991903	TSC1	D	rs118203506	c.(1255-1260)ccggaafs		tuberous sclerosis 1																																				SO:0001589	frameshift_variant	7248	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.chr9:135785963_135785964insG	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.1258dupC	9.37:g.135785969_135785969dupG	ENSP00000298552:p.Arg420fs					TSC1_ENST00000545250.1_Frame_Shift_Ins_p.E369fs|TSC1_ENST00000440111.2_Frame_Shift_Ins_p.E420fs	p.E420fs	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)	12	1478_1479	-			420					B7Z897|Q5VVN5	Frame_Shift_Ins	INS	ENST00000298552.3	37	c.1257_1258insC	CCDS6956.1																																																																																				0.559	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			8	247						8	247	---	---	---	---
FAM21A	387680	broad.mit.edu	37	10	47909192	47909193	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr10:47909192_47909193insC	ENST00000358474.5	+	10	762_763	c.762_763insC	c.(763-765)cccfs	p.P255fs		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		255					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ACTTATTCACACCCCCCAAGCT	0.515																																						ENST00000358474.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(760-765)acccccfs		family with sequence similarity 21, member B																																				SO:0001589	frameshift_variant	55747				retrograde transport, endosome to Golgi	early endosome membrane|WASH complex		g.chr10:47909192_47909193insC																												ENST00000358474.5:c.768dupC	10.37:g.47909198_47909198dupC	ENSP00000351259:p.Pro255fs						p.TP254fs	NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN			10	762_763	+			254						Frame_Shift_Ins	INS	ENST00000358474.5	37	c.762_763insC	CCDS44379.1																																																																																				0.515	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047871.2			11	522						11	522	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1368_1369insC	c.(1369-1371)ccc>Cccc	p.P457fs	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.P338fs|SEC24C_ENST00000345254.4_Splice_Site_p.P457fs|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	457					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.51																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.e11-1		SEC24 family member C																																				SO:0001630	splice_region_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75525559_75525560insC	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1367-1->C	10.37:g.75525566_75525566dupC						SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice	p.VP456_splice	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			11	1530_1531	+	Prostate(51;0.0112)		456					B4DZT4|Q8WV25	Splice_Site	INS	ENST00000339365.2	37	c.1366_splice	CCDS7332.1																																																																																				0.510	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		Frame_Shift_Ins	16	506						16	506	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)cccgaafs	p.E317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.47																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(946-951)ccaagafs		carboxypeptidase N, polypeptide 1																																				SO:0001589	frameshift_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101816832_101816833insG	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.949dupC	10.37:g.101816838_101816838dupG	ENSP00000359446:p.Glu317fs						p.R317fs	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	6	1199_1200	-		Colorectal(252;0.234)	317			Catalytic.		B1AP59	Frame_Shift_Ins	INS	ENST00000370418.3	37	c.948_949insC	CCDS7486.1																																																																																				0.470	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		7	672						7	672	---	---	---	---
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1774-1776)cccfs	p.P592fs	BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.P556fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.P551fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	592			P -> H (in dbSNP:rs2270439).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(1771-1776)gaccccfs		beta-transducin repeat containing E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103310572_103310573insC	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1780dupC	10.37:g.103310579_103310579dupC	ENSP00000359206:p.Pro592fs					BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs	p.DP591fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	14	1891_1892	+		Colorectal(252;0.234)	591					B5MD49|Q5W141|Q5W142|Q9Y213	Frame_Shift_Ins	INS	ENST00000370187.3	37	c.1773_1774insC	CCDS7512.1																																																																																				0.431	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		11	250						11	250	---	---	---	---
OR51E1	143503	broad.mit.edu	37	11	4674216	4674217	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:4674216_4674217insG	ENST00000396952.5	+	2	1110_1111	c.460_461insG	c.(460-462)cggfs	p.R154fs	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A155fs*3(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTGGTGCGGGGGGCTGCA	0.559																																						ENST00000396952.5																			1	Deletion - Frameshift(1)	p.A155fs*3(1)	ovary(1)	NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30						c.(460-462)gggfs		olfactory receptor, family 51, subfamily E, member 1																																				SO:0001589	frameshift_variant	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4674216_4674217insG	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.466dupG	11.37:g.4674222_4674222dupG	ENSP00000380155:p.Arg154fs					OR51E1_ENST00000530215.1_Intron	p.G154fs	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	1110_1111	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	153					A8KAM6|Q5S4P5|Q66X57|Q6IF93	Frame_Shift_Ins	INS	ENST00000396952.5	37	c.460_461insG	CCDS31358.2																																																																																				0.559	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		14	821						14	821	---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)tccfs	p.S147fs	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.51																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(439-441)cccfs		olfactory receptor, family 52, subfamily B, member 6																																				SO:0001589	frameshift_variant	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602545_5602546insC	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.445dupC	11.37:g.5602551_5602551dupC	ENSP00000341581:p.Ser147fs					AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	p.P147fs	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	439_440	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	147					Q6IFI7	Frame_Shift_Ins	INS	ENST00000345043.2	37	c.439_440insC	CCDS41611.1																																																																																				0.510	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		14	1123						14	1123	---	---	---	---
OR56B1	387748	broad.mit.edu	37	11	5758618	5758619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:5758618_5758619insC	ENST00000317121.3	+	1	938_939	c.872_873insC	c.(871-876)atccccfs	p.IP291fs	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CACAACATCATCCCCCCTTCCC	0.406																																						ENST00000317121.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(871-873)accfs		olfactory receptor, family 56, subfamily B, member 1																																				SO:0001589	frameshift_variant	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758618_5758619insC	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.878dupC	11.37:g.5758624_5758624dupC	ENSP00000322939:p.Ile291fs					TRIM5_ENST00000380027.1_Intron	p.T291fs	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	938_939	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	291					B2RNY6|B3KV42|Q6IF76	Frame_Shift_Ins	INS	ENST00000317121.3	37	c.872_873insC	CCDS31395.1																																																																																				0.406	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		8	1452						8	1452	---	---	---	---
APBB1	322	broad.mit.edu	37	11	6423807	6423808	+	Splice_Site	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:6423807_6423808insC	ENST00000609360.1	-	7	1351_1352	c.1252_1253insG	c.(1252-1254)gaa>gGaa	p.E418fs	APBB1_ENST00000299402.6_Splice_Site_p.E418fs|APBB1_ENST00000389906.2_Splice_Site_p.E418fs|APBB1_ENST00000608645.1_Splice_Site_p.E159fs|APBB1_ENST00000530885.1_Splice_Site_p.E198fs|APBB1_ENST00000609331.1_Splice_Site_p.E183fs|APBB1_ENST00000608394.1_Splice_Site_p.E159fs|APBB1_ENST00000311051.3_Splice_Site_p.E418fs|APBB1_ENST00000608655.1_Splice_Site_p.E198fs|APBB1_ENST00000608704.1_Splice_Site_p.E159fs|APBB1_ENST00000529519.1_Intron	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	418	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGTCCTTACTTCCCCCCAGCCC	0.584																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.e7+1		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)																																				SO:0001630	splice_region_variant	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6423807_6423808insC	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1254+1->G	11.37:g.6423813_6423813dupC						APBB1_ENST00000299402.6_Splice_Site_p.R418_splice|APBB1_ENST00000530885.1_Splice_Site_p.R198_splice|APBB1_ENST00000311051.3_Splice_Site_p.R418_splice|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000533407.1_Splice_Site_p.R159_splice	p.R418_splice	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	7	1351_1352	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	418			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Splice_Site	INS	ENST00000609360.1	37	c.1254_splice																																																																																					0.584	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164	Frame_Shift_Ins	11	409						11	409	---	---	---	---
ILK	3611	broad.mit.edu	37	11	6629352	6629353	+	Frame_Shift_Ins	INS	-	-	G	rs141701406		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:6629352_6629353insG	ENST00000396751.2	+	2	622_623	c.166_167insG	c.(166-168)cggfs	p.R56fs	ILK_ENST00000528995.1_Frame_Shift_Ins_p.R56fs|ILK_ENST00000420936.2_Frame_Shift_Ins_p.R56fs|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000299421.4_Frame_Shift_Ins_p.R56fs|ILK_ENST00000537806.1_Intron	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	56	Interaction with LIMS1.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GTTGATCATGCGGGGGGCACGG	0.564																																						ENST00000396751.2																			0				central_nervous_system(1)	1						c.(166-168)gggfs		integrin-linked kinase																																				SO:0001589	frameshift_variant	3611				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity	g.chr11:6629352_6629353insG	U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.172dupG	11.37:g.6629358_6629358dupG	ENSP00000379975:p.Arg56fs					ILK_ENST00000537806.1_Intron|ILK_ENST00000420936.2_Frame_Shift_Ins_p.G56fs|ILK_ENST00000299421.4_Frame_Shift_Ins_p.G56fs|ILK_ENST00000528995.1_Frame_Shift_Ins_p.G56fs	p.G56fs	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)	2	622_623	+		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)	56			Interaction with LIMS1.		B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Frame_Shift_Ins	INS	ENST00000396751.2	37	c.166_167insG	CCDS7768.1																																																																																				0.564	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517		7	187						7	187	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G	rs528648883	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)ccafs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTAAAAAGTGGGGGGCTGTT	0.604																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(2191-2193)cctfs		dachsous cadherin-related 1																																				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6655045_6655046insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2193dupC	11.37:g.6655051_6655051dupG	ENSP00000299441:p.Pro731fs					RP11-732A19.6_ENST00000526633.1_RNA	p.P731fs	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	2603_2604	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	731			Cadherin 7.		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.2192_2193insC	CCDS7771.1																																																																																				0.604	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		7	656						7	656	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs188153920|rs143767864	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:6662141_6662142insG	ENST00000299441.3	-	2	1114_1115	c.703_704insC	c.(703-705)cggfs	p.R235fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGAA	0.589																																						ENST00000299441.3																			1	Substitution - Missense(1)	p.R235Q(1)	urinary_tract(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(703-705)gagfs		dachsous cadherin-related 1				14,4250		0,14,2118						4.7	0.9			101	0,8254		0,0,4127	no	frameshift	DCHS1	NM_003737.2		0,14,6245	A1A1,A1R,RR		0.0,0.3283,0.1118				14,12504				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662141_6662142insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.704dupC	11.37:g.6662148_6662148dupG	ENSP00000299441:p.Arg235fs						p.E235fs	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1114_1115	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	235			Cadherin 2.		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.703_704insC	CCDS7771.1																																																																																				0.589	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		27	243						27	243	---	---	---	---
EIF4G2	1982	broad.mit.edu	37	11	10820934	10820935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:10820934_10820935insG	ENST00000526148.1	-	20	2871_2872	c.2361_2362insC	c.(2359-2364)cccagcfs	p.S788fs	SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.S750fs|EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.S788fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.S788fs	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.S788R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTTCATCGCTGGGGGGGTTTA	0.406																																						ENST00000526148.1																			1	Substitution - Missense(1)	p.S788R(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(2359-2364)ccgcgafs		eukaryotic translation initiation factor 4 gamma, 2																																				SO:0001589	frameshift_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10820934_10820935insG	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2362dupC	11.37:g.10820941_10820941dupG	ENSP00000433664:p.Ser788fs					EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs	p.R788fs	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	20	2871_2872	-			788			W2.			Frame_Shift_Ins	INS	ENST00000526148.1	37	c.2361_2362insC	CCDS31428.1																																																																																				0.406	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		11	226						11	226	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.G61fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.52																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gacfs		peptidase domain containing associated with muscle regeneration 1																																				SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513669_35513670insC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.303dupG	11.37:g.35513676_35513676dupC	ENSP00000368158:p.Gly101fs					PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs	p.D101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			3	747_748	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Ins	INS	ENST00000378880.2	37	c.302_303insG	CCDS31460.1																																																																																				0.520	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		54	1259						54	1259	---	---	---	---
PHF21A	51317	broad.mit.edu	37	11	45967494	45967495	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:45967494_45967495insG	ENST00000418153.2	-	14	1544_1545	c.1345_1346insC	c.(1345-1347)caafs	p.Q449fs	PHF21A_ENST00000257821.4_Frame_Shift_Ins_p.Q450fs|PHF21A_ENST00000323180.6_Intron|PHF21A_ENST00000527753.1_Intron			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	449					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						ATGACTGGATTGGGGGGATGTT	0.525																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.(1348-1350)atcfs		PHD finger protein 21A																																				SO:0001589	frameshift_variant	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:45967494_45967495insG	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1346dupC	11.37:g.45967500_45967500dupG	ENSP00000398824:p.Gln449fs					PHF21A_ENST00000323180.6_Intron|PHF21A_ENST00000527753.1_Intron|PHF21A_ENST00000418153.2_Frame_Shift_Ins_p.I449fs	p.I450fs	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			14	1971_1972	-			449					D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Frame_Shift_Ins	INS	ENST00000418153.2	37	c.1348_1349insC	CCDS44578.1																																																																																				0.525	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		7	329						7	329	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46880747	46880748	+	Frame_Shift_Ins	INS	-	-	C	rs560166088		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:46880747_46880748insC	ENST00000378623.1	-	38	5746_5747	c.5504_5505insG	c.(5503-5505)ggcfs	p.G1835fs	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1835					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(5503-5505)gctfs		low density lipoprotein receptor-related protein 4																																				SO:0001589	frameshift_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46880747_46880748insC	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5505dupG	11.37:g.46880754_46880754dupC	ENSP00000367888:p.Gly1835fs					LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	p.A1835fs	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	38	5746_5747	-			1835					B2RN39|Q4AC85|Q5KTZ5	Frame_Shift_Ins	INS	ENST00000378623.1	37	c.5504_5505insG	CCDS31478.1																																																																																				0.564	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		9	160						9	160	---	---	---	---
C11orf49	79096	broad.mit.edu	37	11	47074000	47074001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:47074000_47074001insC	ENST00000278460.7	+	3	270_271	c.211_212insC	c.(211-213)accfs	p.T71fs	C11orf49_ENST00000378615.3_Frame_Shift_Ins_p.T71fs|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000395460.2_Frame_Shift_Ins_p.T71fs|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000378618.2_Frame_Shift_Ins_p.T71fs	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	71						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CGTCCAAGCCACCCCCCACAAT	0.441																																						ENST00000395460.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						c.(211-213)cccfs		chromosome 11 open reading frame 49			,,,	1,4263		0,1,2131					,,,	6.0	1.0			144	0,8254		0,0,4127	no	frameshift,frameshift,frameshift,frameshift	C11orf49	NM_024113.3,NM_001003678.1,NM_001003677.1,NM_001003676.1	,,,	0,1,6258	A1A1,A1R,RR		0.0,0.0235,0.0080	,,,	,,,		1,12517				SO:0001589	frameshift_variant	79096							g.chr11:47074000_47074001insC	AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.217dupC	11.37:g.47074006_47074006dupC	ENSP00000278460:p.Thr71fs					C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000378618.2_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000378615.3_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000278460.7_Frame_Shift_Ins_p.P71fs	p.P71fs	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN			3	249_250	+			71					D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Frame_Shift_Ins	INS	ENST00000278460.7	37	c.211_212insC	CCDS7925.1																																																																																				0.441	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391218.1	NM_024113		7	654						7	654	---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(751-753)cccfs	p.P251fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.48																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(748-753)atccccfs		olfactory receptor, family 4, subfamily S, member 1																																				SO:0001589	frameshift_variant	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328524_48328525insC	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.756dupC	11.37:g.48328530_48328530dupC	ENSP00000321447:p.Pro251fs						p.IP250fs	NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN			1	750_751	+			250					Q6IFB4	Frame_Shift_Ins	INS	ENST00000319988.1	37	c.750_751insC	CCDS31488.1																																																																																				0.480	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		7	875						7	875	---	---	---	---
OR8I2	120586	broad.mit.edu	37	11	55861307	55861308	+	Frame_Shift_Ins	INS	-	-	T	rs201548817|rs112181516|rs144690814	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:55861307_55861308insT	ENST00000302124.2	+	1	555_556	c.524_525insT	c.(523-528)cattttfs	p.HF175fs		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H175fs*10(1)|p.C178fs*2(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AGCATCAATCATTTTTTTTGTG	0.441																																						ENST00000302124.2																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.H175fs*10(1)|p.C178fs*2(1)	ovary(1)|large_intestine(1)	NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(523-525)cttfs		olfactory receptor, family 8, subfamily I, member 2				0,4264		0,0,2132						3.2	1.0		dbSNP_132	145	1,8253		0,1,4126	no	frameshift	OR8I2	NM_001003750.1		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861307_55861308insT	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.532dupT	11.37:g.55861315_55861315dupT	ENSP00000303864:p.His175fs					OR8I2_ENST00000560768.1_Frame_Shift_Ins_p.L175fs	p.L175fs			Q8N0Y5	OR8I2_HUMAN			1	555_556	+	Esophageal squamous(21;0.00693)		175					B2RNN4|Q6IFC0|Q96RC5	Frame_Shift_Ins	INS	ENST00000302124.2	37	c.524_525insT	CCDS31517.1																																																																																				0.441	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		7	424						7	424	---	---	---	---
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(385-387)cccfs	p.P129fs	C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.P91fs|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	129	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(382-387)aaccccfs		thioredoxin-related transmembrane protein 2																																				SO:0001589	frameshift_variant	51075				cell redox homeostasis	integral to membrane		g.chr11:57505845_57505846insC	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.391dupC	11.37:g.57505852_57505852dupC	ENSP00000278422:p.Pro129fs					TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron	p.NP128fs	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			4	396_397	+			128			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Frame_Shift_Ins	INS	ENST00000278422.4	37	c.384_385insC	CCDS7967.1																																																																																				0.421	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		11	619						11	619	---	---	---	---
PATL1	219988	broad.mit.edu	37	11	59425145	59425146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:59425145_59425146insG	ENST00000300146.9	-	5	562_563	c.478_479insC	c.(478-480)cagfs	p.Q160fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	160	Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.			Q -> H (in Ref. 2; BAG54601). {ECO:0000305}.	cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TTCTGGACCCTGGGGGGGCCTC	0.455																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(478-480)gggfs		protein associated with topoisomerase II homolog 1 (yeast)																																				SO:0001589	frameshift_variant	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59425145_59425146insG	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.479dupC	11.37:g.59425152_59425152dupG	ENSP00000300146:p.Gln160fs						p.G160fs	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN			5	562_563	-			160	Q -> H (in Ref. 2; BAG54601).		Pro-rich.|Region N; interaction with decapping machinery.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Frame_Shift_Ins	INS	ENST00000300146.9	37	c.478_479insC	CCDS44613.1																																																																																				0.455	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		8	262						8	262	---	---	---	---
TMEM132A	54972	broad.mit.edu	37	11	60699533	60699534	+	Frame_Shift_Ins	INS	-	-	G	rs61745629|rs183954132	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:60699533_60699534insG	ENST00000453848.2	+	7	1448_1449	c.1290_1291insG	c.(1291-1293)gggfs	p.G431fs	TMEM132A_ENST00000005286.4_Frame_Shift_Ins_p.G432fs			Q24JP5	T132A_HUMAN	transmembrane protein 132A	431						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTGTGGACGGCGGGGGGGCCTT	0.644																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(1291-1296)ggggggfs		transmembrane protein 132A			,	6,4258		0,6,2126					,	-7.6	0.0			59	6,8248		0,6,4121	no	frameshift,frameshift	TMEM132A	NM_178031.2,NM_017870.3	,	0,12,6247	A1A1,A1R,RR		0.0727,0.1407,0.0959	,	,		12,12506				SO:0001589	frameshift_variant	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60699533_60699534insG	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1297dupG	11.37:g.60699540_60699540dupG	ENSP00000405823:p.Gly431fs					TMEM132A_ENST00000453848.2_Frame_Shift_Ins_p.GG430fs	p.GG431fs	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			7	1446_1447	+			430					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Frame_Shift_Ins	INS	ENST00000453848.2	37	c.1293_1294insG	CCDS44618.1																																																																																				0.644	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		7	99						7	99	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G	rs555561982	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.e5-2	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa				2,4260		0,2,2129						4.8	1.0			84	5,8245		0,5,4120	no	splice-3	DDB1	NM_001923.3		0,7,6249	A1A1,A1R,RR		0.0606,0.0469,0.0559				7,12505				SO:0001630	splice_region_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61094367_61094368insG	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.550-2->C	11.37:g.61094374_61094374dupG						DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron		NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			5	947	-								A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Splice_Site	INS	ENST00000301764.7	37		CCDS31576.1																																																																																				0.515	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	Intron	15	386						15	386	---	---	---	---
RASGRP2	10235	broad.mit.edu	37	11	64507637	64507638	+	Splice_Site	INS	-	-	G	rs376998176		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:64507637_64507638insG	ENST00000354024.3	-	6	624		c.e6-2		RASGRP2_ENST00000394432.3_Splice_Site|RASGRP2_ENST00000377497.3_Splice_Site|RASGRP2_ENST00000377494.1_Splice_Site	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)						blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGGTAGGGCTGGGGGGGCAGG	0.569																																						ENST00000377494.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e5-2		RAS guanyl releasing protein 2 (calcium and DAG-regulated)																																				SO:0001630	splice_region_variant	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64507637_64507638insG	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.372-2->C	11.37:g.64507644_64507644dupG						RASGRP2_ENST00000394432.3_Splice_Site|RASGRP2_ENST00000377497.3_Splice_Site|RASGRP2_ENST00000354024.3_Splice_Site				Q7LDG7	GRP2_HUMAN			5	1294	-								A6NDC7|O00538|Q9UL65	Splice_Site	INS	ENST00000354024.3	37		CCDS31598.1																																																																																				0.569	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819	Intron	7	127						7	127	---	---	---	---
RELA	5970	broad.mit.edu	37	11	65422045	65422046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:65422045_65422046insG	ENST00000406246.3	-	11	1720_1721	c.1459_1460insC	c.(1459-1461)cacfs	p.H487fs	RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Frame_Shift_Ins_p.H484fs	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	487					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CTCAGTTGTGTGGGGGGCCACA	0.624																																						ENST00000406246.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(1459-1461)cacfs		v-rel avian reticuloendotheliosis viral oncogene homolog A																																				SO:0001589	frameshift_variant	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65422045_65422046insG	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1460dupC	11.37:g.65422051_65422051dupG	ENSP00000384273:p.His487fs					RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Frame_Shift_Ins_p.H484fs	p.H487fs	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN			11	1720_1721	-			487					Q6GTV1|Q6SLK1	Frame_Shift_Ins	INS	ENST00000406246.3	37	c.1459_1460insC	CCDS31609.1																																																																																				0.624	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		7	223						7	223	---	---	---	---
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs202225573|rs142447712		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:66272154_66272155insC	ENST00000360510.2	+	17	2015_2016	c.1950_1951insC	c.(1951-1953)cccfs	p.P651fs	DPP3_ENST00000531863.1_Frame_Shift_Ins_p.P671fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.P621fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000532677.1_Frame_Shift_Ins_p.P670fs			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	651					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(2005-2010)gcccccfs		dipeptidyl-peptidase 3																																				SO:0001589	frameshift_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66272154_66272155insC	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1956dupC	11.37:g.66272160_66272160dupC	ENSP00000353701:p.Pro651fs					DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs	p.AP669fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			17	2408_2409	+			650					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Frame_Shift_Ins	INS	ENST00000360510.2	37	c.2007_2008insC	CCDS8141.1																																																																																				0.579	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			8	233						8	233	---	---	---	---
BBS1	582	broad.mit.edu	37	11	66299155	66299156	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:66299155_66299156insC	ENST00000318312.7	+	16	1688_1689	c.1637_1638insC	c.(1636-1641)taccccfs	p.YP546fs	BBS1_ENST00000393994.2_Frame_Shift_Ins_p.YP417fs|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Frame_Shift_Ins_p.YP449fs|CTD-3074O7.11_ENST00000419755.3_Frame_Shift_Ins_p.YP583fs	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	546					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GGGCTCAACTACCCCCTGGAGA	0.54									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	ENST00000419755.3																			0											c.(1747-1749)tccfs																																						SO:0001589	frameshift_variant	0		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr11:66299155_66299156insC	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1642dupC	11.37:g.66299160_66299160dupC	ENSP00000317469:p.Tyr546fs					ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Frame_Shift_Ins_p.S417fs|BBS1_ENST00000318312.7_Frame_Shift_Ins_p.S546fs|BBS1_ENST00000455748.2_Frame_Shift_Ins_p.S449fs	p.S583fs							16	1826_1827	+								Q32MM9|Q32MN0|Q96SN4	Frame_Shift_Ins	INS	ENST00000318312.7	37	c.1748_1749insC	CCDS8142.1																																																																																				0.540	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			8	1010						8	1010	---	---	---	---
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:66366957_66366958insG	ENST00000533244.1	+	4	719_720	c.278_279insG	c.(277-282)ctggggfs	p.LG93fs	CCS_ENST00000310190.4_Frame_Shift_Ins_p.LG74fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	93	Superoxide dismutase-like.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GTGGCCATCCTGGGGGGGCCTG	0.644																																						ENST00000533244.1																			0				breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(277-279)cggfs		copper chaperone for superoxide dismutase																																				SO:0001589	frameshift_variant	9973				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding	g.chr11:66366957_66366958insG	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.285dupG	11.37:g.66366964_66366964dupG	ENSP00000436318:p.Leu93fs					CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs	p.R93fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN			4	719_720	+			93			Superoxide dismutase-like.		Q2M366|Q8NEV0	Frame_Shift_Ins	INS	ENST00000533244.1	37	c.278_279insG	CCDS8146.1																																																																																				0.644	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125		11	105						11	105	---	---	---	---
PC	5091	broad.mit.edu	37	11	66639561	66639562	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:66639561_66639562insG	ENST00000393958.2	-	3	162_163	c.69_70insC	c.(67-72)cccgctfs	p.A24fs	PC_ENST00000355677.3_Frame_Shift_Ins_p.A24fs|PC_ENST00000524491.1_5'UTR|PC_ENST00000393960.1_Frame_Shift_Ins_p.A24fs|PC_ENST00000393955.2_Frame_Shift_Ins_p.A24fs	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	24					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGGGAGGCAGCGGGGGCGGTGG	0.619																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(67-72)ccctgcfs		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)																																			SO:0001589	frameshift_variant	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66639561_66639562insG	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.70dupC	11.37:g.66639566_66639566dupG	ENSP00000377530:p.Ala24fs					PC_ENST00000393955.2_Frame_Shift_Ins_p.C24fs|PC_ENST00000355677.3_Frame_Shift_Ins_p.C24fs|PC_ENST00000393958.2_Frame_Shift_Ins_p.C24fs|PC_ENST00000524491.1_5'UTR	p.C24fs	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	4	350_351	-		Melanoma(852;0.0525)	24					B4DN00|Q16705	Frame_Shift_Ins	INS	ENST00000393958.2	37	c.69_70insC	CCDS8152.1																																																																																				0.619	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		2	4						2	4	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)gctfs	p.A9fs	NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.A9fs|NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.A9fs	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(25-27)tgcfs		nuclear mitotic apparatus protein 1																																				SO:0001589	frameshift_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71746964_71746965insC	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.26dupG	11.37:g.71746970_71746970dupC	ENSP00000377298:p.Ala9fs					NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs	p.C9fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			3	356_357	-			9						Frame_Shift_Ins	INS	ENST00000393695.3	37	c.25_26insG	CCDS31633.1																																																																																				0.505	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			9	432						9	432	---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77412023	77412024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:77412023_77412024insG	ENST00000308488.6	-	6	2552_2553	c.2250_2251insC	c.(2248-2253)cccaaafs	p.K751fs	RSF1_ENST00000360355.2_Frame_Shift_Ins_p.K720fs|RSF1_ENST00000480887.1_Frame_Shift_Ins_p.K499fs			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	751					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCTAGAACTTTGGGGGGAGAAT	0.411																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2248-2253)ccaagtfs		remodeling and spacing factor 1																																				SO:0001589	frameshift_variant	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412023_77412024insG	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.2251dupC	11.37:g.77412029_77412029dupG	ENSP00000311513:p.Lys751fs					RSF1_ENST00000480887.1_Frame_Shift_Ins_p.S499fs|RSF1_ENST00000360355.2_Frame_Shift_Ins_p.S720fs	p.S751fs			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	2552_2553	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		751					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Frame_Shift_Ins	INS	ENST00000308488.6	37	c.2250_2251insC	CCDS8253.1																																																																																				0.411	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		8	677						8	677	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	84027990	84027991	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:84027990_84027991insC	ENST00000398301.2	-	1	391_392	c.198_199insG	c.(196-201)gggtccfs	p.S67fs	DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000280241.8_Frame_Shift_Ins_p.S67fs			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTGAAGCTGGACCCCCCGGTCC	0.609																																						ENST00000280241.8																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(196-201)ggccagfs		discs, large homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84027990_84027991insC	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000398301.2:c.199dupG	11.37:g.84027996_84027996dupC	ENSP00000381346:p.Ser67fs					DLG2_ENST00000543673.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000398301.2_Frame_Shift_Ins_p.Q67fs	p.Q67fs	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN			1	197_198	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	0					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Frame_Shift_Ins	INS	ENST00000398301.2	37	c.198_199insG																																																																																					0.609	DLG2-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000259244.2	NM_001364		11	445						11	445	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92088048	92088049	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:92088048_92088049insT	ENST00000298047.6	+	1	2787_2788	c.2770_2771insT	c.(2770-2772)gttfs	p.V924fs	FAT3_ENST00000525166.1_Frame_Shift_Ins_p.V774fs|FAT3_ENST00000541502.1_Frame_Shift_Ins_p.V924fs|FAT3_ENST00000409404.2_Frame_Shift_Ins_p.V924fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	924	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACTCTTAAAGTTTTTTTAGAT	0.446										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(2770-2772)tttfs		FAT atypical cadherin 3																																				SO:0001589	frameshift_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92088048_92088049insT	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2777dupT	11.37:g.92088055_92088055dupT	ENSP00000298047:p.Val924fs	TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Frame_Shift_Ins_p.F924fs|FAT3_ENST00000409404.2_Frame_Shift_Ins_p.F924fs|FAT3_ENST00000525166.1_Frame_Shift_Ins_p.F774fs	p.F924fs			Q8TDW7	FAT3_HUMAN			1	2787_2788	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	924			Cadherin 8.		B5MDB0|Q96AU6	Frame_Shift_Ins	INS	ENST00000298047.6	37	c.2770_2771insT																																																																																					0.446	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	500						7	500	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G	rs576548045		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:113076860_113076861insG	ENST00000533760.1	+	5	831_832	c.232_233insG	c.(232-234)cggfs	p.R78fs	NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.R195fs|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Frame_Shift_Ins_p.R186fs	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(556-558)gggfs		neural cell adhesion molecule 1																																				SO:0001589	frameshift_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113076860_113076861insG		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.238dupG	11.37:g.113076866_113076866dupG	ENSP00000473281:p.Arg78fs					NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs	p.G186fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	4	556_557	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	196			Ig-like C2-type 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Frame_Shift_Ins	INS	ENST00000533760.1	37	c.556_557insG																																																																																					0.495	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		22	1144						22	1144	---	---	---	---
HTR3A	3359	broad.mit.edu	37	11	113857332	113857333	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:113857332_113857333insC	ENST00000504030.2	+	7	1243_1244	c.798_799insC	c.(799-801)cccfs	p.P267fs	HTR3A_ENST00000355556.2_Frame_Shift_Ins_p.P273fs|HTR3A_ENST00000299961.5_Frame_Shift_Ins_p.P252fs|HTR3A_ENST00000535865.1_Frame_Shift_Ins_p.P11fs|HTR3A_ENST00000506841.2_Frame_Shift_Ins_p.P267fs|HTR3A_ENST00000375498.2_Frame_Shift_Ins_p.P273fs			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	267					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	GCTTCTACCTGCCCCCCAACAG	0.594																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(796-801)ctccccfs		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)																																			SO:0001589	frameshift_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857332_113857333insC	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.804dupC	11.37:g.113857338_113857338dupC	ENSP00000424189:p.Pro267fs					HTR3A_ENST00000506841.2_Frame_Shift_Ins_p.LP266fs|HTR3A_ENST00000535865.1_Frame_Shift_Ins_p.LP10fs|HTR3A_ENST00000299961.5_Frame_Shift_Ins_p.LP251fs|HTR3A_ENST00000355556.2_Frame_Shift_Ins_p.LP272fs|HTR3A_ENST00000375498.2_Frame_Shift_Ins_p.LP272fs	p.LP266fs			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1243_1244	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	266					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Frame_Shift_Ins	INS	ENST00000504030.2	37	c.798_799insC																																																																																					0.594	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		7	248						7	248	---	---	---	---
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G	rs200755405		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:118629613_118629614insG	ENST00000526070.2	-	9	1225		c.e9-2		DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000264018.4_Splice_Site	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						cytoplasmic mRNA processing body assembly (GO:0033962)|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)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.e9-2		DEAD (Asp-Glu-Ala-Asp) box helicase 6				28,3478		0,28,1725						5.8	1.0			104	55,7749		0,55,3847	no	splice-3	DDX6	NM_004397.4		0,83,5572	A1A1,A1R,RR		0.7048,0.7986,0.7339				83,11227				SO:0001630	splice_region_variant	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118629613_118629614insG	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.865-2->C	11.37:g.118629621_118629621dupG						DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site		NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	9	1170	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)						Q5D048	Splice_Site	INS	ENST00000526070.2	37		CCDS44751.1																																																																																				0.426	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	Intron	28	306						28	306	---	---	---	---
CCDC153	283152	broad.mit.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:119061042_119061043insG	ENST00000503566.2	-	6	598_599	c.599_600insC	c.(598-600)cctfs	p.P200fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.P200fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569																																						ENST00000503566.2																			0				lung(3)|stomach(1)	4						c.(598-600)cggfs		coiled-coil domain containing 153				6,4256		0,6,2125						3.6	1.0			88	8,8244		0,8,4118	no	frameshift	CCDC153	NM_001145018.1		0,14,6243	A1A1,A1R,RR		0.0969,0.1408,0.1119				14,12500				SO:0001589	frameshift_variant	283152							g.chr11:119061042_119061043insG		CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.600dupC	11.37:g.119061049_119061049dupG	ENSP00000423567:p.Pro200fs					CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.R200fs	p.R200fs			Q494R4	CC153_HUMAN			6	598_599	-			200						Frame_Shift_Ins	INS	ENST00000503566.2	37	c.599_600insC	CCDS44753.1																																																																																				0.569	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2	NM_001033658		10	326						10	326	---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G	rs373860109		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)ccafs	p.P800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(2398-2400)caafs		ADAM metallopeptidase with thrombospondin type 1 motif, 8																																				SO:0001589	frameshift_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275723_130275724insG	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2400dupC	11.37:g.130275729_130275729dupG	ENSP00000257359:p.Pro800fs						p.Q800fs	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	3105_3106	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	800			Spacer.		Q9NZS0	Frame_Shift_Ins	INS	ENST00000257359.6	37	c.2399_2400insC	CCDS41732.1																																																																																				0.579	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		14	1608						14	1608	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)cagfs	p.Q909fs	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525																																						ENST00000534548.2																			1	Insertion - Frameshift(1)	p.Q909fs*12(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2725-2727)ggtfs		non-SMC condensin II complex, subunit D3																																				SO:0001589	frameshift_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134048585_134048586insG	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2726dupC	11.37:g.134048592_134048592dupG	ENSP00000433681:p.Gln909fs						p.G909fs	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	22	2789_2790	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	909					A6NFS2|Q4KMQ9	Frame_Shift_Ins	INS	ENST00000534548.2	37	c.2725_2726insC	CCDS31723.1																																																																																				0.525	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		10	258						10	258	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134062758	134062759	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:134062758_134062759insC	ENST00000534548.2	-	16	1934_1935	c.1870_1871insG	c.(1870-1872)gtgfs	p.V624fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	624					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CACCGGGACCACCCCCCGCAAC	0.54																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1870-1872)ggtfs		non-SMC condensin II complex, subunit D3																																				SO:0001589	frameshift_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134062758_134062759insC	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1871dupG	11.37:g.134062764_134062764dupC	ENSP00000433681:p.Val624fs						p.G624fs	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	16	1934_1935	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	624					A6NFS2|Q4KMQ9	Frame_Shift_Ins	INS	ENST00000534548.2	37	c.1870_1871insG	CCDS31723.1																																																																																				0.540	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		10	242						10	242	---	---	---	---
GLB1L3	112937	broad.mit.edu	37	11	134181004	134181005	+	Frame_Shift_Ins	INS	-	-	C	rs370128549		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:134181004_134181005insC	ENST00000431683.2	+	13	1227_1228	c.1227_1228insC	c.(1228-1230)cccfs	p.P410fs		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	410					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AGGCTGTGTATCCCCCCGTGAG	0.604																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1225-1230)taccccfs		galactosidase, beta 1-like 3																																				SO:0001589	frameshift_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134181004_134181005insC		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1233dupC	11.37:g.134181010_134181010dupC	ENSP00000396615:p.Pro410fs						p.YP409fs	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	13	1227_1228	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	409					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Frame_Shift_Ins	INS	ENST00000431683.2	37	c.1227_1228insC	CCDS44780.1																																																																																				0.604	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		8	567						8	567	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6128170	6128171	+	Frame_Shift_Ins	INS	-	-	G	rs374092740|rs1800383	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:6128170_6128171insG	ENST00000261405.5	-	28	4667_4668	c.4413_4414insC	c.(4411-4416)cccgacfs	p.D1472fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1472			D -> H (in dbSNP:rs1800383). {ECO:0000269|PubMed:1988024, ECO:0000269|PubMed:2584182, ECO:0000269|PubMed:3489923}.		blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGTGCCATGTCGGGGGGCAGAG	0.614																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CI034194|HM070121	VWF	I|M	rs1800383	c.(4411-4416)ccacatfs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6128170_6128171insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4414dupC	12.37:g.6128176_6128176dupG	ENSP00000261405:p.Asp1472fs						p.H1472fs	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			28	4667_4668	-			1472		D -> H (in dbSNP:rs1800383).			Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.4413_4414insC	CCDS8539.1																																																																																				0.614	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		14	175						14	175	---	---	---	---
MRPL51	51258	broad.mit.edu	37	12	6602094	6602095	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:6602094_6602095insG	ENST00000229238.3	-	2	584_585	c.123_124insC	c.(121-126)cccaaafs	p.K42fs	MRPL51_ENST00000543703.1_Intron|MRPL51_ENST00000543164.1_5'UTR|NCAPD2_ENST00000545962.1_5'Flank|NCAPD2_ENST00000315579.5_5'Flank	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	42					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|lung(3)	6						TCAACCACTTTGGGGGGCGGGA	0.51																																						ENST00000229238.3																			0				kidney(2)|large_intestine(1)|lung(3)	6						c.(121-126)ccaagtfs		mitochondrial ribosomal protein L51																																				SO:0001589	frameshift_variant	51258				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr12:6602094_6602095insG	AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"""Mitochondrial ribosomal proteins / large subunits"""	14044	protein-coding gene	gene with protein product		611855	"""mitochondrial ribosomal protein 64"""	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.124dupC	12.37:g.6602100_6602100dupG	ENSP00000229238:p.Lys42fs					MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_Intron	p.S42fs	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN			2	584_585	-			42					Q96Q57|Q9BQ36|Q9P0N7	Frame_Shift_Ins	INS	ENST00000229238.3	37	c.123_124insC	CCDS8547.1																																																																																				0.510	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1	NM_016497		9	377						9	377	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6701714	6701715	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:6701714_6701715insA	ENST00000357008.2	-	19	2955_2956	c.2792_2793insT	c.(2791-2793)ttgfs	p.L931fs	CHD4_ENST00000544040.1_Frame_Shift_Ins_p.L924fs|CHD4_ENST00000544484.1_Frame_Shift_Ins_p.L928fs|CHD4_ENST00000309577.6_Frame_Shift_Ins_p.L931fs	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	931					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CAAACTCCTCCAAAAAACCTTC	0.436																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(2791-2793)tgafs		chromodomain helicase DNA binding protein 4																																				SO:0001589	frameshift_variant	1108				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|zinc ion binding	g.chr12:6701714_6701715insA	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2793dupT	12.37:g.6701720_6701720dupA	ENSP00000349508:p.Leu931fs					CHD4_ENST00000544484.1_Frame_Shift_Ins_p.*928fs|CHD4_ENST00000544040.1_Frame_Shift_Ins_p.*924fs|CHD4_ENST00000357008.2_Frame_Shift_Ins_p.*931fs	p.*931fs			Q14839	CHD4_HUMAN			19	2955_2956	-			931					Q8IXZ5	Frame_Shift_Ins	INS	ENST00000357008.2	37	c.2792_2793insT	CCDS8552.1																																																																																				0.436	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		9	698						9	698	---	---	---	---
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-495)caggggfs	p.QG164fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.QG109fs|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AAAAACATACAGGGGGGGAAGA	0.564																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(490-492)cggfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6924042_6924043insG	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.498dupG	12.37:g.6924049_6924049dupG	ENSP00000011653:p.Gln164fs					CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	p.R164fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN			5	749_750	+		Myeloproliferative disorder(1001;0.0122)	164			Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.491_492insG	CCDS8562.1																																																																																				0.564	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		18	576						18	576	---	---	---	---
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-477)tgccccfs	p.CP158fs	C1S_ENST00000402681.3_5'UTR|C1S_ENST00000328916.3_Frame_Shift_Ins_p.CP158fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.CP158fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCTGCTCCTGCCCCCCGGAAT	0.455																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(472-474)tccfs		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)																																			SO:0001589	frameshift_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7171652_7171653insC		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.479dupC	12.37:g.7171658_7171658dupC	ENSP00000385035:p.Cys158fs					C1S_ENST00000402681.3_5'UTR|C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs	p.S158fs			P09871	C1S_HUMAN			8	1101_1102	+			158			EGF-like; calcium-binding.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Frame_Shift_Ins	INS	ENST00000406697.1	37	c.473_474insC	CCDS31735.1																																																																																				0.455	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		16	533						16	533	---	---	---	---
LRP6	4040	broad.mit.edu	37	12	12274317	12274318	+	Frame_Shift_Ins	INS	-	-	G	rs145639537	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:12274317_12274318insG	ENST00000261349.4	-	23	4660_4661	c.4584_4585insC	c.(4582-4587)cccaccfs	p.T1529fs	LRP6_ENST00000543091.1_Frame_Shift_Ins_p.T1484fs|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1529					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CAGGGTGTGGTGGGGGGTGCAA	0.465																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(4582-4587)ccccacfs		low density lipoprotein receptor-related protein 6																																				SO:0001589	frameshift_variant	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12274317_12274318insG	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4585dupC	12.37:g.12274323_12274323dupG	ENSP00000261349:p.Thr1529fs					BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.H1484fs	p.H1529fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			23	4660_4661	-		Prostate(47;0.0865)	1529					Q17RZ2	Frame_Shift_Ins	INS	ENST00000261349.4	37	c.4584_4585insC	CCDS8647.1																																																																																				0.465	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			9	545						9	545	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:13142224_13142225insC	ENST00000014930.4	-	2	361_362	c.203_204insG	c.(202-204)ggcfs	p.G68fs	HEBP1_ENST00000536942.1_Frame_Shift_Ins_p.G68fs	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554																																						ENST00000536942.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(202-204)gacfs		heme binding protein 1																																				SO:0001589	frameshift_variant	50865				circadian rhythm	extracellular region		g.chr12:13142224_13142225insC	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.204dupG	12.37:g.13142230_13142230dupC	ENSP00000014930:p.Gly68fs					HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs	p.D68fs			Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	2	353_354	-		Prostate(47;0.183)	68					A8K1G2|Q9Y5Z5	Frame_Shift_Ins	INS	ENST00000014930.4	37	c.203_204insG	CCDS31749.1																																																																																				0.554	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			18	1118						18	1118	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:14019043_14019044insG	ENST00000609686.1	-	2	308_309	c.99_100insC	c.(97-102)cccagcfs	p.S34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGCCAATGCTGGGGGGGCTCT	0.589																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(97-102)ccgcatfs		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001589	frameshift_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14019043_14019044insG		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.100dupC	12.37:g.14019050_14019050dupG	ENSP00000477455:p.Ser34fs						p.H34fs	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			2	308_309	-			34					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Ins	INS	ENST00000609686.1	37	c.99_100insC	CCDS8662.1																																																																																				0.589	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			11	233						11	233	---	---	---	---
RERG	85004	broad.mit.edu	37	12	15262411	15262412	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:15262411_15262412insC	ENST00000256953.2	-	5	568_569	c.232_233insG	c.(232-234)gaafs	p.E78fs	RERG_ENST00000546331.1_Frame_Shift_Ins_p.E59fs|RERG-IT1_ENST00000539734.1_RNA|RERG_ENST00000536465.1_Frame_Shift_Ins_p.E78fs|RERG_ENST00000538313.1_Frame_Shift_Ins_p.E78fs	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	78					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CACAAAGCCTTCCCCCCATCGC	0.46																																						ENST00000256953.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(232-234)aggfs		RAS-like, estrogen-regulated, growth inhibitor																																				SO:0001589	frameshift_variant	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262411_15262412insC	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.233dupG	12.37:g.15262417_15262417dupC	ENSP00000256953:p.Glu78fs					RERG_ENST00000536465.1_Frame_Shift_Ins_p.R78fs|RERG_ENST00000538313.1_Frame_Shift_Ins_p.R78fs|RERG_ENST00000546331.1_Frame_Shift_Ins_p.R59fs	p.R78fs	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN			5	568_569	-			78					B2R9R0|B4DI02	Frame_Shift_Ins	INS	ENST00000256953.2	37	c.232_233insG	CCDS8673.1																																																																																				0.460	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		8	1250						8	1250	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G	rs200088180		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)ccafs	p.P647fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATACCTCAGGTGGGGGGGACAT	0.634																																						ENST00000301067.7																			0											c.(1939-1941)cccfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49445525_49445526insG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1941dupC	12.37:g.49445532_49445532dupG	ENSP00000301067:p.Pro647fs						p.P647fs	NM_003482.3	NP_003473.3					10	1939_1940	-								O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.1940_1941insC	CCDS44873.1																																																																																				0.634	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			11	264						11	264	---	---	---	---
ASIC1	41	broad.mit.edu	37	12	50471134	50471135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:50471134_50471135insG	ENST00000447966.2	+	4	926_927	c.697_698insG	c.(697-699)tggfs	p.W233fs	ASIC1_ENST00000228468.4_Frame_Shift_Ins_p.W233fs|ASIC1_ENST00000552438.1_Frame_Shift_Ins_p.W267fs	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	233					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	CCTGCCTGTGTGGGGGGAGACT	0.649																																						ENST00000228468.4																			0											c.(697-699)gggfs		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)																																			SO:0001589	frameshift_variant	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50471134_50471135insG	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.703dupG	12.37:g.50471140_50471140dupG	ENSP00000400228:p.Trp233fs					ASIC1_ENST00000447966.2_Frame_Shift_Ins_p.G233fs|ASIC1_ENST00000552438.1_Frame_Shift_Ins_p.G267fs	p.G233fs	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			4	1082_1083	+			233					A3KN86|E5KBL7|P78349|Q96CV2	Frame_Shift_Ins	INS	ENST00000447966.2	37	c.697_698insG	CCDS44876.1																																																																																				0.649	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		7	125						7	125	---	---	---	---
GALNT6	11226	broad.mit.edu	37	12	51751177	51751178	+	Frame_Shift_Ins	INS	-	-	C	rs148799204		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:51751177_51751178insC	ENST00000543196.2	-	9	1762_1763	c.1557_1558insG	c.(1555-1560)gggaagfs	p.K520fs	GALNT6_ENST00000356317.3_Frame_Shift_Ins_p.K520fs			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	520	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATGAGGGGCTTCCCCCCGCGGT	0.599																																						ENST00000543196.2																			0				endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1555-1560)ggagccfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)																																				SO:0001589	frameshift_variant	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51751177_51751178insC	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1558dupG	12.37:g.51751183_51751183dupC	ENSP00000444171:p.Lys520fs					GALNT6_ENST00000356317.3_Frame_Shift_Ins_p.A520fs	p.A520fs			Q8NCL4	GALT6_HUMAN			9	1762_1763	-			520			Ricin B-type lectin.		Q8IYH4|Q9H6G2|Q9UIV5	Frame_Shift_Ins	INS	ENST00000543196.2	37	c.1557_1558insG	CCDS8813.1																																																																																				0.599	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		8	201						8	201	---	---	---	---
EIF4B	1975	broad.mit.edu	37	12	53427591	53427592	+	Splice_Site	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:53427591_53427592insC	ENST00000262056.9	+	9	1307_1308	c.981_982insC	c.(982-984)ccc>Cccc	p.P328fs	EIF4B_ENST00000416762.3_Splice_Site_p.P289fs|EIF4B_ENST00000420463.3_Splice_Site_p.P328fs|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	328	Arg-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TTAACTTAGGTCCCCCCCAAAG	0.426																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.e9-1		eukaryotic translation initiation factor 4B																																				SO:0001630	splice_region_variant	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53427591_53427592insC	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.980-1->C	12.37:g.53427598_53427598dupC						RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Splice_Site_p.GP288_splice|EIF4B_ENST00000420463.3_Splice_Site_p.GP327_splice	p.GP327_splice	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			9	1307_1308	+			327			Arg-rich.		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Splice_Site	INS	ENST00000262056.9	37	c.979_splice	CCDS41788.1																																																																																				0.426	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417	Frame_Shift_Ins	8	141						8	141	---	---	---	---
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:53856277_53856278insC	ENST00000439930.3	+	7	539_540	c.517_518insC	c.(517-519)tccfs	p.S173fs	PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000603815.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000552296.2_Splice_Site_p.S169fs|PCBP2_ENST00000437231.1_Splice_Site_p.S169fs|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000455667.3_Splice_Site_p.S169fs|PCBP2_ENST00000541275.1_Splice_Site_p.S169fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000546463.1_Splice_Site_p.S169fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000359282.5_Splice_Site_p.S169fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.S173fs			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	173					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAAG	0.5																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(517-519)cccfs		poly(rC) binding protein 2																																				SO:0001589	frameshift_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53856277_53856278insC	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.524dupC	12.37:g.53856284_53856284dupC	ENSP00000408949:p.Ser173fs					PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|RP11-793H13.8_ENST00000547717.1_RNA	p.P173fs	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			8	867_868	+			173					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Frame_Shift_Ins	INS	ENST00000439930.3	37	c.517_518insC	CCDS44901.1																																																																																				0.500	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		18	286						18	286	---	---	---	---
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C	rs201995432		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)accfs	p.T302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465																																						ENST00000242994.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(904-906)cccfs		neuronal differentiation 4																																				SO:0001589	frameshift_variant	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55421127_55421128insC	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.910dupC	12.37:g.55421133_55421133dupC	ENSP00000242994:p.Thr302fs						p.P302fs	NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN			2	1282_1283	+			302					B2RAC9	Frame_Shift_Ins	INS	ENST00000242994.3	37	c.904_905insC	CCDS8886.1																																																																																				0.465	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			15	2760						15	2760	---	---	---	---
DNAJC14	85406	broad.mit.edu	37	12	56222209	56222210	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:56222209_56222210insG	ENST00000357606.3	-	3	522_523	c.233_234insC	c.(232-234)ccafs	p.P78fs	DNAJC14_ENST00000317287.5_Frame_Shift_Ins_p.P78fs|DNAJC14_ENST00000317269.3_Frame_Shift_Ins_p.P78fs|RP11-762I7.5_ENST00000546837.1_5'Flank|TMEM198B_ENST00000478241.1_RNA			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	78					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CTGGACCCCCTGGGGGGCCATG	0.559																																						ENST00000357606.3																			0				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						c.(232-234)cggfs		DnaJ (Hsp40) homolog, subfamily C, member 14																																				SO:0001589	frameshift_variant	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56222209_56222210insG	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.234dupC	12.37:g.56222215_56222215dupG	ENSP00000350223:p.Pro78fs					DNAJC14_ENST00000317269.3_Frame_Shift_Ins_p.R78fs|DNAJC14_ENST00000317287.5_Frame_Shift_Ins_p.R78fs	p.R78fs			Q6Y2X3	DJC14_HUMAN			3	522_523	-			78					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Frame_Shift_Ins	INS	ENST00000357606.3	37	c.233_234insC	CCDS8894.1																																																																																				0.559	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		7	512						7	512	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56558259	56558260	+	Frame_Shift_Ins	INS	-	-	G	rs528782426		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:56558259_56558260insG	ENST00000267064.4	-	27	3481_3482	c.3395_3396insC	c.(3394-3396)ccafs	p.P1132fs	SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.P1163fs|SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1132	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCAGGTTAGGTGGGGGGAGAGT	0.614																																						ENST00000550164.1																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3487-3489)cccfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558259_56558260insG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3396dupC	12.37:g.56558265_56558265dupG	ENSP00000267064:p.Pro1132fs					SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.P1132fs|SMARCC2_ENST00000347471.4_Intron	p.P1163fs			Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		28	3502_3503	-			1132			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.3488_3489insC	CCDS8907.1																																																																																				0.614	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	427						7	427	---	---	---	---
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)cccaagfs	p.K490fs	STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.K486fs|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1465-1470)ccaggcfs		signal transducer and activator of transcription 2, 113kDa																																				SO:0001589	frameshift_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56742816_56742817insG	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1468dupC	12.37:g.56742823_56742823dupG	ENSP00000315768:p.Lys490fs					STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs	p.G490fs			P52630	STAT2_HUMAN			17	1490_1491	-			490					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Frame_Shift_Ins	INS	ENST00000314128.4	37	c.1467_1468insC	CCDS8917.1																																																																																				0.594	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		12	320						12	320	---	---	---	---
NACA	4666	broad.mit.edu	37	12	57115173	57115174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:57115173_57115174insG	ENST00000454682.1	-	3	421_422	c.140_141insC	c.(139-141)cctfs	p.P47fs	NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.P47fs|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	47	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGAGCAAGGAGGGGGGAGGGT	0.554			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(139-141)cccfs		nascent polypeptide-associated complex alpha subunit																																				SO:0001589	frameshift_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57115173_57115174insG	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.141dupC	12.37:g.57115179_57115179dupG	ENSP00000403817:p.Pro47fs					NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.P47fs	p.P47fs	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	421_422	-			0						Frame_Shift_Ins	INS	ENST00000454682.1	37	c.140_141insC																																																																																					0.554	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		8	216						8	216	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G	rs368789621		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.W144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.W231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(814-816)gggfs		GLI family zinc finger 1																																				SO:0001589	frameshift_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57860074_57860075insG		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.821dupG	12.37:g.57860081_57860081dupG	ENSP00000228682:p.Trp272fs					GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs	p.G272fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		8	905_906	+			272					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Ins	INS	ENST00000228682.2	37	c.814_815insG	CCDS8940.1																																																																																				0.599	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		46	850						46	850	---	---	---	---
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)ccafs	p.P200fs	DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.P205fs|DCTN2_ENST00000551400.1_5'Flank|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.P177fs|DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.P205fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	200					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GGCTGCTATCTGGGGGGGTCCC	0.5																																						ENST00000548249.1																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						c.(598-600)cgafs		dynactin 2 (p50)																																				SO:0001589	frameshift_variant	10540				cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding	g.chr12:57927805_57927806insG	U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.600dupC	12.37:g.57927812_57927812dupG	ENSP00000447824:p.Pro200fs					DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs|DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs	p.R200fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN			7	866_867	-			200					B2RBK5|Q86YN2|Q9BW17	Frame_Shift_Ins	INS	ENST00000548249.1	37	c.599_600insC	CCDS58245.1																																																																																				0.500	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		12	231						12	231	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57972047	57972048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:57972047_57972048insG	ENST00000455537.2	+	23	2734_2735	c.2460_2461insG	c.(2461-2463)gggfs	p.G821fs	KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.G732fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	821					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCGAAGACAGTGGGGGGATTCA	0.505																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2458-2463)agggggfs		kinesin family member 5A																																				SO:0001589	frameshift_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57972047_57972048insG	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2466dupG	12.37:g.57972053_57972053dupG	ENSP00000408979:p.Gly821fs					KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.RG731fs	p.RG820fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			23	2734_2735	+			820					A6H8M5|Q4LE26	Frame_Shift_Ins	INS	ENST00000455537.2	37	c.2460_2461insG	CCDS8945.1																																																																																				0.505	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		7	1458						7	1458	---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C	rs577942747		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:69233089_69233090insC	ENST00000350057.5	+	9	861_862	c.861_862insC	c.(862-864)cccfs	p.P288fs	MDM2_ENST00000517852.1_Intron|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.P258fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.P92fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.P65fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.P87fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000462284.1_Frame_Shift_Ins_p.P319fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.P264fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.P143fs			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	313	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Necessary for interaction with USP2.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(952-957)aaccccfs		MDM2 oncogene, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69233089_69233090insC		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.868dupC	12.37:g.69233096_69233096dupC	ENSP00000266624:p.Pro288fs					MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs	p.NP318fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		11	1256_1257	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		312			Necessary for interaction with USP2.|Region II.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Frame_Shift_Ins	INS	ENST00000350057.5	37	c.954_955insC																																																																																					0.426	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		10	585						10	585	---	---	---	---
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)cccaggfs	p.R445fs	BEST3_ENST00000553096.1_Frame_Shift_Ins_p.R339fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.R232fs|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	445					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1330-1335)ccgggcfs		bestrophin 3																																				SO:0001589	frameshift_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049361_70049362insG	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1333dupC	12.37:g.70049368_70049368dupG	ENSP00000332413:p.Arg445fs					BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs	p.PG444fs	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1558_1559	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		444					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Ins	INS	ENST00000330891.5	37	c.1332_1333insC	CCDS8992.2																																																																																				0.594	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		12	386						12	386	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1197)cgccccfs	p.RP398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.RP398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1192-1194)cccfs		neuron navigator 3				2,3746		0,2,1872						4.8	1.0			90	1,7917		0,1,3958	no	frameshift	NAV3	NM_014903.4		0,3,5830	A1A1,A1R,RR		0.0126,0.0534,0.0257				3,11663				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400511_78400512insC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1199dupC	12.37:g.78400517_78400517dupC	ENSP00000381007:p.Arg398fs	HNSCC(70;0.22)				NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs	p.P398fs			Q8IVL0	NAV3_HUMAN			8	1366_1367	+			398					Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	37	c.1193_1194insC																																																																																					0.495	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		7	355						7	355	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G	rs550401137		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)ccafs	p.P1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.P722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3214-3216)cgtfs		UHRF1 binding protein 1-like																																				SO:0001589	frameshift_variant	23074							g.chr12:100451839_100451840insG		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3216dupC	12.37:g.100451846_100451846dupG	ENSP00000279907:p.Pro1072fs					UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	p.R1072fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			14	3427_3428	-			1072					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Frame_Shift_Ins	INS	ENST00000279907.7	37	c.3215_3216insC	CCDS31882.1																																																																																				0.371	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		19	469						19	469	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104131518	104131519	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:104131518_104131519insG	ENST00000388887.2	+	53	5861_5862	c.5657_5658insG	c.(5656-5661)ctggggfs	p.LG1886fs		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GATCCCACCCTGGGGGGCCGCT	0.51																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(5656-5658)cggfs		stabilin 2																																				SO:0001589	frameshift_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104131518_104131519insG	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5663dupG	12.37:g.104131524_104131524dupG	ENSP00000373539:p.Leu1886fs						p.R1886fs	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			53	5861_5862	+			1886						Frame_Shift_Ins	INS	ENST00000388887.2	37	c.5657_5658insG	CCDS31888.1																																																																																				0.510	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			9	554						9	554	---	---	---	---
BRAP	8315	broad.mit.edu	37	12	112082051	112082052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:112082051_112082052insC	ENST00000327551.6	-	12	1780_1781	c.1640_1641insG	c.(1639-1641)ggcfs	p.G547fs	BRAP_ENST00000419234.4_Frame_Shift_Ins_p.G577fs|BRAP_ENST00000539060.1_Frame_Shift_Ins_p.G398fs			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ACTTCCCACTGCCCCCCGAAGA	0.604																																					Pancreas(146;846 1904 7830 25130 26065)	ENST00000419234.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(1729-1731)gagfs		BRCA1 associated protein																																				SO:0001589	frameshift_variant	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112082051_112082052insC	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.1641dupG	12.37:g.112082057_112082057dupC	ENSP00000330813:p.Gly547fs					BRAP_ENST00000327551.6_Frame_Shift_Ins_p.E547fs|BRAP_ENST00000539060.1_Frame_Shift_Ins_p.E398fs	p.E577fs	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN			12	1923_1924	-			577					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Frame_Shift_Ins	INS	ENST00000327551.6	37	c.1730_1731insG																																																																																					0.604	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			8	104						8	104	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:112600859_112600860insG	ENST00000430131.2	-	74	12985_12986	c.11840_11841insC	c.(11839-11841)ccafs	p.P3947fs	HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P4197fs|HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.P4223fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3947	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTGTGCCATCTGGGGGGGCGAT	0.629																																						ENST00000550722.1																			0											c.(12667-12669)cgafs		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	283450							g.chr12:112600859_112600860insG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11841dupC	12.37:g.112600866_112600866dupG	ENSP00000404379:p.Pro3947fs					HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs	p.R4223fs	NM_001109662.3	NP_001103132.3					75	13063_13064	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37	c.12668_12669insC																																																																																					0.629	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		22	243						22	243	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112601004	112601005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:112601004_112601005insC	ENST00000430131.2	-	74	12840_12841	c.11695_11696insG	c.(11695-11697)gccfs	p.A3899fs	HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.A4149fs|HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.A4175fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3899	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CATCTCCAGGGCCCCCCAGAAG	0.614																																						ENST00000550722.1																			0											c.(12523-12525)cctfs		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	283450							g.chr12:112601004_112601005insC	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11696dupG	12.37:g.112601010_112601010dupC	ENSP00000404379:p.Ala3899fs					HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.P3899fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P4149fs	p.P4175fs	NM_001109662.3	NP_001103132.3					75	12918_12919	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37	c.12523_12524insG																																																																																					0.614	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		8	135						8	135	---	---	---	---
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G	rs369159999		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC8B1_ENST00000202831.3_Splice_Site|SLC8B1_ENST00000553238.1_Intron|SLC8B1_ENST00000546737.1_Intron			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1						cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										CGCCAGCGCCTGGGGGGAGGAG	0.644																																						ENST00000552014.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.e8-2						0,4260		0,0,2130						3.3	0.4		dbSNP_126	108	1,8251		0,1,4125	no	splice-3	SLC24A6	NM_024959.2		0,1,6255	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12511				SO:0001630	splice_region_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113758305_113758306insG	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.527-2->C	12.37:g.113758311_113758311dupG						SLC24A6_ENST00000202831.3_Splice_Site|SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000553238.1_Intron				Q6J4K2	NCKX6_HUMAN			8	1042	-								A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Splice_Site	INS	ENST00000552014.1	37		CCDS31909.1																																																																																				0.644	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959	Intron	8	865						8	865	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cccttgfs	p.PL697fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.PL670fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	697					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(2089-2094)cctgttfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133245023_133245024insG		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2092dupC	12.37:g.133245030_133245030dupG	ENSP00000322570:p.Pro697fs					POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	p.V698fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	19	2134_2135	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	698					Q13533|Q86VH9	Frame_Shift_Ins	INS	ENST00000320574.5	37	c.2091_2092insC	CCDS9278.1																																																																																				0.599	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		11	258						11	258	---	---	---	---
PXMP2	5827	broad.mit.edu	37	12	133277869	133277870	+	Frame_Shift_Ins	INS	-	-	G	rs529562240|rs141115887	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:133277869_133277870insG	ENST00000317479.3	+	4	498_499	c.433_434insG	c.(433-435)aggfs	p.R145fs	PXMP2_ENST00000545677.1_Frame_Shift_Ins_p.EG16fs|PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.R52fs|PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.EG16fs|PXMP2_ENST00000543589.1_Intron|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.EG16fs	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	145						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CGCCAAGATGAGGGGGGGCTTC	0.614													GGGGGGG|GGGGGGG|GGGGGGGG|insertion	23	0.00459265	0.0	0.0029	5008	,	,		16275	0.0		0.004	False		,,,				2504	0.0174					ENST00000545677.1																			0				large_intestine(1)|liver(2)|lung(1)	4						c.(46-48)gggfs		peroxisomal membrane protein 2, 22kDa				4,4258		0,4,2127						2.8	0.0			75	23,8231		0,23,4104	no	frameshift	PXMP2	NM_018663.1		0,27,6231	A1A1,A1R,RR		0.2787,0.0939,0.2157				27,12489				SO:0001589	frameshift_variant	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133277869_133277870insG		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.440dupG	12.37:g.133277876_133277876dupG	ENSP00000321271:p.Arg145fs					PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.G52fs|PXMP2_ENST00000317479.3_Frame_Shift_Ins_p.G145fs|PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.G16fs|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.G16fs|PXMP2_ENST00000543589.1_Intron	p.G16fs			Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	3	250_251	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		0						Frame_Shift_Ins	INS	ENST00000317479.3	37	c.47_48insG	CCDS9279.1																																																																																				0.614	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663		12	236						12	236	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080|rs370605552	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggcgafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.47																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1324-1329)gggagafs		kelch repeat and BTB (POZ) domain containing 6																																				SO:0001589	frameshift_variant	89890						protein binding	g.chr13:41705321_41705322insC	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1327dupG	13.37:g.41705328_41705328dupC	ENSP00000368799:p.Arg443fs					KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	p.R443fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1560_1561	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	443					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Frame_Shift_Ins	INS	ENST00000379485.1	37	c.1326_1327insG	CCDS9376.1																																																																																				0.470	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		12	168						12	168	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20295776	20295777	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:20295776_20295777insC	ENST00000315947.1	+	1	169_170	c.169_170insC	c.(169-171)gccfs	p.A57fs	OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.A57fs	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGGCTCACAGCCCCCCTCTAT	0.475																																						ENST00000568211.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(169-171)cccfs		olfactory receptor, family 4, subfamily N, member 2																																				SO:0001589	frameshift_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295776_20295777insC		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.175dupC	14.37:g.20295782_20295782dupC	ENSP00000319601:p.Ala57fs					OR4N2_ENST00000315947.1_Frame_Shift_Ins_p.P57fs	p.P57fs			Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	169_170	+	all_cancers(95;0.00108)		57					Q6IEY9|Q6IFA2	Frame_Shift_Ins	INS	ENST00000315947.1	37	c.169_170insC	CCDS32022.1																																																																																				0.475	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			10	1502						10	1502	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)gccfs	p.A57fs	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.46																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(169-171)cccfs		olfactory receptor, family 4, subfamily N, member 5																																				SO:0001589	frameshift_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612063_20612064insC		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.175dupC	14.37:g.20612069_20612069dupC	ENSP00000332110:p.Ala57fs						p.P57fs	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	169_170	+	all_cancers(95;0.00108)		57					Q6IF11	Frame_Shift_Ins	INS	ENST00000333629.1	37	c.169_170insC	CCDS32031.1																																																																																				0.460	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			15	1842						15	1842	---	---	---	---
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)cccaagfs	p.K1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.48																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(3124-3129)ccagaafs		suppressor of Ty 16 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21820849_21820850insG	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.3127dupC	14.37:g.21820855_21820855dupG	ENSP00000216297:p.Lys1043fs						p.E1043fs	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	26	3464_3465	-	all_cancers(95;0.00115)		1043					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Frame_Shift_Ins	INS	ENST00000216297.2	37	c.3126_3127insC	CCDS9569.1																																																																																				0.480	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			11	774						11	774	---	---	---	---
CDH24	64403	broad.mit.edu	37	14	23523784	23523785	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:23523784_23523785insC	ENST00000267383.5	-	4	806_807	c.714_715insG	c.(712-717)gggctgfs	p.L239fs	CDH24_ENST00000397359.3_Frame_Shift_Ins_p.L239fs|CDH24_ENST00000487137.2_Frame_Shift_Ins_p.L239fs|CDH24_ENST00000554034.1_Frame_Shift_Ins_p.L239fs			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	239	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTGCCTGACAGCCCCCCCATGT	0.609											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(712-717)ggtgtcfs		cadherin 24, type 2																																				SO:0001589	frameshift_variant	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23523784_23523785insC	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.715dupG	14.37:g.23523791_23523791dupC	ENSP00000267383:p.Leu239fs		OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	CDH24_ENST00000267383.5_Frame_Shift_Ins_p.V239fs|CDH24_ENST00000554034.1_Frame_Shift_Ins_p.V239fs|CDH24_ENST00000487137.2_Frame_Shift_Ins_p.V239fs	p.V239fs	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	5	973_974	-	all_cancers(95;3.3e-05)		239			Cadherin 2.		D3DS44|Q86UP1|Q9NT84	Frame_Shift_Ins	INS	ENST00000267383.5	37	c.714_715insG	CCDS9585.1																																																																																				0.609	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		8	81						8	81	---	---	---	---
LRRC16B	90668	broad.mit.edu	37	14	24532702	24532703	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:24532702_24532703insC	ENST00000342740.5	+	31	3093_3094	c.2939_2940insC	c.(2938-2943)cgccccfs	p.RP980fs	LRRC16B_ENST00000334420.7_Frame_Shift_Ins_p.RP76fs	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	980						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGGAGGCCCCGCCCCCCCAGGA	0.594																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(2938-2940)cccfs		leucine rich repeat containing 16B																																				SO:0001589	frameshift_variant	90668							g.chr14:24532702_24532703insC	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2946dupC	14.37:g.24532709_24532709dupC	ENSP00000340467:p.Arg980fs					LRRC16B_ENST00000334420.7_Frame_Shift_Ins_p.P76fs	p.P980fs	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	31	3093_3094	+			980					Q8TEF7|Q96HS9	Frame_Shift_Ins	INS	ENST00000342740.5	37	c.2939_2940insC	CCDS32054.1																																																																																				0.594	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		9	105						9	105	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)tccfs	p.S9fs	AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.S9fs|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.S9fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(25-27)cccfs		A kinase (PRKA) anchor protein 6																																				SO:0001589	frameshift_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:32902724_32902725insC	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.31dupC	14.37:g.32902730_32902730dupC	ENSP00000280979:p.Ser9fs					AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs	p.P9fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	2	195_196	+	Breast(36;0.0388)|Prostate(35;0.15)		9					A7E242|A7E2D4|O15028	Frame_Shift_Ins	INS	ENST00000280979.4	37	c.25_26insC	CCDS9644.1																																																																																				0.505	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		8	431						8	431	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)cagfs	p.Q964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2890-2892)gatfs		potassium voltage-gated channel, subfamily H (eag-related), member 5			,	5,4259		0,5,2127					,	4.2	1.0		dbSNP_126	119	5,8249		0,5,4122	no	utr-3,frameshift	KCNH5	NM_172375.1,NM_139318.3	,	0,10,6249	A1A1,A1R,RR		0.0606,0.1173,0.0799	,	,		10,12508				SO:0001589	frameshift_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174302_63174303insG	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2891dupC	14.37:g.63174309_63174309dupG	ENSP00000321427:p.Gln964fs					KCNH5_ENST00000420622.2_3'UTR	p.D964fs	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	3158_3159	-			964					C9JP98	Frame_Shift_Ins	INS	ENST00000322893.7	37	c.2890_2891insC	CCDS9756.1																																																																																				0.391	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		15	473						15	473	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)tggfs	p.W317fs	GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.W317fs|GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.W317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	317	Catalytic subdomain B.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GATGGACATCTGGGGGGGAGAG	0.47																																						ENST00000337827.4																			0											c.(949-951)gggfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																																				SO:0001589	frameshift_variant	57452							g.chr14:69800299_69800300insG	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.956dupG	14.37:g.69800306_69800306dupG	ENSP00000336729:p.Trp317fs					GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs	p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2					9	1276_1277	+								Q4KMG3|Q58A55|Q9ULT9	Frame_Shift_Ins	INS	ENST00000337827.4	37	c.949_950insG	CCDS32107.1																																																																																				0.470	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		10	261						10	261	---	---	---	---
MED6	10001	broad.mit.edu	37	14	71051554	71051555	+	Frame_Shift_Ins	INS	-	-	G	rs145634622	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:71051554_71051555insG	ENST00000256379.5	-	8	745_746	c.716_717insC	c.(715-717)cctfs	p.P239fs	MED6_ENST00000430055.2_Frame_Shift_Ins_p.P246fs|MED6_ENST00000554963.1_Frame_Shift_Ins_p.P239fs|MED6_ENST00000440435.2_3'UTR	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	239					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.E240fs*1(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCCGTTTTTCAGGGGGGCCTTT	0.45																																						ENST00000256379.5																			1	Insertion - Frameshift(1)	p.E240fs*1(1)	skin(1)	large_intestine(2)|lung(2)|skin(1)	5						c.(715-717)cgafs		mediator complex subunit 6																																				SO:0001589	frameshift_variant	10001				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	g.chr14:71051554_71051555insG	BC004106	CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1	14q24.1	2013-02-28	2007-07-30		ENSG00000133997	ENSG00000133997			19970	protein-coding gene	gene with protein product		602984	"""mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae)"""			9234719, 9671713	Standard	NM_001284209		Approved	NY-REN-28	uc001xmf.3	O75586	OTTHUMG00000171252	ENST00000256379.5:c.717dupC	14.37:g.71051560_71051560dupG	ENSP00000256379:p.Pro239fs					MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs|MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000440435.2_3'UTR	p.R239fs	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN		all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)	8	745_746	-			239					B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	Frame_Shift_Ins	INS	ENST00000256379.5	37	c.716_717insC	CCDS9805.1																																																																																				0.450	MED6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412560.2	NM_005466		14	1291						14	1291	---	---	---	---
RBM25	58517	broad.mit.edu	37	14	73572734	73572737	+	Frame_Shift_Del	DEL	ACGA	ACGA	-	rs538459054	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:73572734_73572737delACGA	ENST00000261973.7	+	11	1607_1610	c.1322_1325delACGA	c.(1321-1326)tacgaafs	p.YE441fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.YE441fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	441	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GAAGATGCATACGAACGAAGAAAA	0.422																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1321-1326)tafs		RNA binding motif protein 25																																				SO:0001589	frameshift_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73572734_73572737delACGA	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1322_1325delACGA	14.37:g.73572738_73572741delACGA	ENSP00000261973:p.Tyr441fs					RBM25_ENST00000527432.1_Frame_Shift_Del_p.YE441fs	p.YE441fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	11	1607_1610	+			441			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Frame_Shift_Del	DEL	ENST00000261973.7	37	c.1322_1325delACGA	CCDS32113.1																																																																																				0.422	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		7	499						7	499	---	---	---	---
RP11-991C1.2	0	broad.mit.edu	37	14	95516588	95516610	+	lincRNA	DEL	GGAAGGAAGGAAGGAAAGAAGAA	GGAAGGAAGGAAGGAAAGAAGAA	-	rs141805851|rs370630614|rs373606592		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA	ENST00000554033.1	+	0	41																											aagaaggaagggaaggaaggaaggaaagaagaaggaaggaagg	0.448																																						ENST00000554033.1																			0																																																			0							g.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA																													14.37:g.95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA														0	41	+									RNA	DEL	ENST00000554033.1	37																																																																																						0.448	RP11-991C1.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414512.1			7	36						7	36	---	---	---	---
IGHG4	3503	broad.mit.edu	37	14	106091519	106091520	+	RNA	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:106091519_106091520insG	ENST00000390543.2	-	0	373_374							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCTTGGGTTTTGGGGGGAACAG	0.619																																						ENST00000390543.2																			0																																																			3503							g.chr14:106091519_106091520insG	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106091525_106091525dupG														0	373_374	-									RNA	INS	ENST00000390543.2	37																																																																																						0.619	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		9	437						9	437	---	---	---	---
OR4N4	283694	broad.mit.edu	37	15	22382641	22382642	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:22382641_22382642insC	ENST00000328795.4	+	1	260_261	c.169_170insC	c.(169-171)gccfs	p.A57fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGGCTCACAGCCCCCCTCTAT	0.46																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(169-171)cccfs		olfactory receptor, family 4, subfamily N, member 4																																				SO:0001589	frameshift_variant	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382641_22382642insC	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.175dupC	15.37:g.22382647_22382647dupC	ENSP00000332500:p.Ala57fs					RP11-69H14.6_ENST00000558896.1_RNA	p.P57fs	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	260_261	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	57					Q6IEY3|Q6IF56	Frame_Shift_Ins	INS	ENST00000328795.4	37	c.169_170insC	CCDS32173.1																																																																																				0.460	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			7	700						7	700	---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45457005	45457006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:45457005_45457006insC	ENST00000321429.4	+	35	4969_4970	c.4562_4563insC	c.(4561-4566)ggccccfs	p.GP1521fs	DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.GP1521fs|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.GP1167fs	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1521					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.G1524fs*26(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TTTAGCTGTGGCCCCCCTGGCA	0.545																																						ENST00000321429.4																			1	Insertion - Frameshift(1)	p.G1524fs*26(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(4561-4563)gccfs		dual oxidase 1																																				SO:0001589	frameshift_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45457005_45457006insC	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4568dupC	15.37:g.45457011_45457011dupC	ENSP00000317997:p.Gly1521fs					CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.A1521fs|DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.A1167fs	p.A1521fs	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	35	4969_4970	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1521					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Frame_Shift_Ins	INS	ENST00000321429.4	37	c.4562_4563insC	CCDS32221.1																																																																																				0.545	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		8	879						8	879	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64973566	64973567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:64973566_64973567insC	ENST00000326648.3	+	8	4349_4350	c.4221_4222insC	c.(4222-4224)cccfs	p.P1408fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1408						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTCTACCCACCCCCCAGGAG	0.47											OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(4219-4224)ccccccfs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64973566_64973567insC	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.4227dupC	15.37:g.64973572_64973572dupC	ENSP00000316527:p.Pro1408fs		OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1080		p.PP1407fs	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			8	4349_4350	+			1407					Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.4221_4222insC	CCDS32270.1																																																																																				0.470	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		9	728						9	728	---	---	---	---
ANPEP	290	broad.mit.edu	37	15	90349370	90349371	+	Frame_Shift_Ins	INS	-	-	G	rs375782169|rs201282264		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:90349370_90349371insG	ENST00000300060.6	-	2	757_758	c.444_445insC	c.(442-447)cccgacfs	p.D149fs		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	149	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TTGTCAATGTCGGGGGGCTGGG	0.604																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(442-447)ccacatfs		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)																																			SO:0001589	frameshift_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90349370_90349371insG	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.445dupC	15.37:g.90349376_90349376dupG	ENSP00000300060:p.Asp149fs						p.H149fs	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		2	757_758	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		149			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Frame_Shift_Ins	INS	ENST00000300060.6	37	c.444_445insC	CCDS10356.1																																																																																				0.604	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			7	171						7	171	---	---	---	---
IDH2	3418	broad.mit.edu	37	15	90631917	90631918	+	Frame_Shift_Ins	INS	-	-	C	rs200758694	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:90631917_90631918insC	ENST00000330062.3	-	4	548_549	c.435_436insG	c.(433-438)gggactfs	p.T146fs	IDH2_ENST00000540499.2_Frame_Shift_Ins_p.T94fs|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Frame_Shift_Ins_p.T16fs	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	146					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CGGAAGACAGTCCCCCCCAGGA	0.564			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(433-438)ggctgtfs		isocitrate dehydrogenase 2 (NADP+), mitochondrial																																				SO:0001589	frameshift_variant	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631917_90631918insC		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.436dupG	15.37:g.90631924_90631924dupC	ENSP00000331897:p.Thr146fs					IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Frame_Shift_Ins_p.C94fs|IDH2_ENST00000539790.1_Frame_Shift_Ins_p.C16fs	p.C146fs	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	548_549	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		146					B2R6L6|B4DFL2|Q96GT3	Frame_Shift_Ins	INS	ENST00000330062.3	37	c.435_436insG	CCDS10359.1																																																																																				0.564	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			12	152						12	152	---	---	---	---
CHSY1	22856	broad.mit.edu	37	15	101775436	101775437	+	Frame_Shift_Ins	INS	-	-	C	rs74545602	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:101775436_101775437insC	ENST00000254190.3	-	2	1141_1142	c.666_667insG	c.(664-669)gggcctfs	p.P223fs		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	223					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCACGCCAGGCCCCCCCATGC	0.614																																						ENST00000254190.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24						c.(664-669)ggctggfs		chondroitin sulfate synthase 1																																				SO:0001589	frameshift_variant	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101775436_101775437insC	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.667dupG	15.37:g.101775443_101775443dupC	ENSP00000254190:p.Pro223fs						p.W223fs	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		2	1141_1142	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		223					Q6UX38|Q7LFU5|Q9Y2J5	Frame_Shift_Ins	INS	ENST00000254190.3	37	c.666_667insG	CCDS10390.1																																																																																				0.614	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		7	107						7	107	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2815060	2815061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:2815060_2815061insC	ENST00000301740.8	+	11	5080_5081	c.4531_4532insC	c.(4531-4533)accfs	p.T1511fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1511	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAGTGTCTTACCCCCCAGAGA	0.525																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(4531-4533)cccfs		serine/arginine repetitive matrix 2																																				SO:0001589	frameshift_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815060_2815061insC	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4537dupC	16.37:g.2815066_2815066dupC	ENSP00000301740:p.Thr1511fs						p.P1511fs	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	5080_5081	+			1511			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Ins	INS	ENST00000301740.8	37	c.4531_4532insC	CCDS32373.1																																																																																				0.525	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			12	1142						12	1142	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3303)ttccccfs	p.FP1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3298-3300)tccfs		NODAL modulator 1																																				SO:0001589	frameshift_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14980694_14980695insC	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3305dupC	16.37:g.14980700_14980700dupC	ENSP00000287667:p.Phe1100fs						p.S1100fs	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			28	3470_3471	+			1100					P78421|Q8IW21|Q96DG0	Frame_Shift_Ins	INS	ENST00000287667.7	37	c.3299_3300insC	CCDS10556.1																																																																																				0.475	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			9	996						9	996	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20966297	20966298	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:20966297_20966298insG	ENST00000261383.3	-	55	10907_10908	c.10908_10909insC	c.(10906-10911)cccaaafs	p.K3637fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3637	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGGAGCCCTTTGGGGGGCTCAT	0.51																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10906-10911)ccaaggfs		dynein, axonemal, heavy chain 3																																				SO:0001589	frameshift_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20966297_20966298insG	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10909dupC	16.37:g.20966303_20966303dupG	ENSP00000261383:p.Lys3637fs					DNAH3_ENST00000415178.1_3'UTR	p.R3637fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	55	10907_10908	-			3637			AAA 6 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	ENST00000261383.3	37	c.10908_10909insC	CCDS10594.1																																																																																				0.510	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		11	520						11	520	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20976647	20976648	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:20976647_20976648insG	ENST00000261383.3	-	53	8557_8558	c.8558_8559insC	c.(8557-8559)ccafs	p.P2853fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2853	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATGGTCAGTGGGGGGATGTT	0.46																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(8557-8559)cctfs		dynein, axonemal, heavy chain 3																																				SO:0001589	frameshift_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976647_20976648insG	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8559dupC	16.37:g.20976653_20976653dupG	ENSP00000261383:p.Pro2853fs					DNAH3_ENST00000415178.1_3'UTR	p.P2853fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	8557_8558	-			2853			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	ENST00000261383.3	37	c.8558_8559insC	CCDS10594.1																																																																																				0.460	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		13	737						13	737	---	---	---	---
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:30100077_30100078insC	ENST00000395224.2	-	5	763_764	c.704_705insG	c.(703-705)ggcfs	p.G235fs	TBX6_ENST00000279386.2_Frame_Shift_Ins_p.G235fs|TBX6_ENST00000553607.1_Frame_Shift_Ins_p.G235fs	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629																																						ENST00000553607.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(703-705)gatfs		T-box 6																																				SO:0001589	frameshift_variant	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30100077_30100078insC	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.705dupG	16.37:g.30100084_30100084dupC	ENSP00000378650:p.Gly235fs					TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs	p.D235fs			O95947	TBX6_HUMAN			4	1397_1398	-			235					Q8TAS4|Q9HA44	Frame_Shift_Ins	INS	ENST00000395224.2	37	c.704_705insG	CCDS10670.1																																																																																				0.629	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		8	207						8	207	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30733909	30733910	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:30733909_30733910insG	ENST00000262518.4	+	23	4117_4118	c.3732_3733insG	c.(3733-3735)gggfs	p.G1245fs	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1245	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGTGTCAGCAGGGGGGCAGCA	0.614																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(3730-3735)gcggggfs		Snf2-related CREBBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30733909_30733910insG	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3738dupG	16.37:g.30733915_30733915dupG	ENSP00000262518:p.Gly1245fs					SRCAP_ENST00000395059.2_Intron|SRCAP_ENST00000344771.4_Intron	p.AG1244fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		23	4117_4118	+			1244			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Ins	INS	ENST00000262518.4	37	c.3732_3733insG	CCDS10689.2																																																																																				0.614	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		14	872						14	872	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30977316	30977317	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:30977316_30977317insC	ENST00000262519.8	+	8	2800_2801	c.2114_2115insC	c.(2113-2118)ggccccfs	p.GP705fs		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	705					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						GCCTCAGCTGGCCCCCCCGGTG	0.644																																						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.(2113-2115)gccfs		SET domain containing 1A				8,4238		0,8,2115						2.5	0.6			50	23,8211		0,23,4094	no	frameshift	SETD1A	NM_014712.1		0,31,6209	A1A1,A1R,RR		0.2793,0.1884,0.2484				31,12449				SO:0001589	frameshift_variant	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.chr16:30977316_30977317insC	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.2121dupC	16.37:g.30977323_30977323dupC	ENSP00000262519:p.Gly705fs						p.A705fs	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			8	2800_2801	+			705					A6NP62|Q6PIF3|Q8TAJ6	Frame_Shift_Ins	INS	ENST00000262519.8	37	c.2114_2115insC	CCDS32435.1																																																																																				0.644	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		7	153						7	153	---	---	---	---
NKD1	85407	broad.mit.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(856-858)cccfs	p.P286fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	286					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(853-858)ctccccfs		naked cuticle homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667134_50667135insC	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.862dupC	16.37:g.50667141_50667141dupC	ENSP00000268459:p.Pro286fs						p.LP285fs	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1079_1080	+		all_cancers(37;0.229)	285					B2RC39|Q8WZ08	Frame_Shift_Ins	INS	ENST00000268459.3	37	c.855_856insC	CCDS10743.1																																																																																				0.599	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			10	149						10	149	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50745398	50745399	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:50745398_50745399insC	ENST00000300589.2	+	4	1681_1682	c.1576_1577insC	c.(1576-1578)accfs	p.T526fs	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	526	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCTGCATGCCACCCCCCCAGAC	0.619																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(1576-1578)cccfs		nucleotide-binding oligomerization domain containing 2																																				SO:0001589	frameshift_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745398_50745399insC	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1583dupC	16.37:g.50745405_50745405dupC	ENSP00000300589:p.Thr526fs						p.P526fs	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	1681_1682	+		all_cancers(37;0.0156)	526			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Frame_Shift_Ins	INS	ENST00000300589.2	37	c.1576_1577insC	CCDS10746.1																																																																																				0.619	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		8	105						8	105	---	---	---	---
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C	rs539297455	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:67180988_67180989insC	ENST00000219139.3	+	16	1411_1412	c.1223_1224insC	c.(1222-1227)ggccccfs	p.GP408fs	C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.GP408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													CCCCCCT|CCCCCCC|CCCCCCCC|complex_insertion	5	0.000998403	0.0008	0.0029	5008	,	,		22846	0.0		0.0	False		,,,				2504	0.002					ENST00000219139.3																			1	Insertion - Frameshift(1)	p.R411fs*4(1)	ovary(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(1222-1224)gccfs		chromosome 16 open reading frame 70																																				SO:0001589	frameshift_variant	80262							g.chr16:67180988_67180989insC	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.1230dupC	16.37:g.67180995_67180995dupC	ENSP00000219139:p.Gly408fs					C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs	p.A408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	16	1411_1412	+		Ovarian(137;0.192)	408					Q9HA86	Frame_Shift_Ins	INS	ENST00000219139.3	37	c.1223_1224insC	CCDS10828.1																																																																																				0.594	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		12	316						12	316	---	---	---	---
KCTD19	146212	broad.mit.edu	37	16	67325657	67325658	+	Frame_Shift_Ins	INS	-	-	G	rs201413788		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:67325657_67325658insG	ENST00000304372.5	-	13	2356_2357	c.2301_2302insC	c.(2299-2304)cccgtgfs	p.V768fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	768					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCCCACCACGGGGGGGTGAG	0.574																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(2299-2304)cctggtfs		potassium channel tetramerization domain containing 19				13,3719		0,13,1853						4.5	1.0			57	14,7888		0,14,3937	no	frameshift	KCTD19	NM_001100915.1		0,27,5790	A1A1,A1R,RR		0.1772,0.3483,0.2321				27,11607				SO:0001589	frameshift_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67325657_67325658insG	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2302dupC	16.37:g.67325664_67325664dupG	ENSP00000305702:p.Val768fs						p.G768fs	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	13	2356_2357	-		Ovarian(137;0.192)	768					B4DZ49|Q8N804	Frame_Shift_Ins	INS	ENST00000304372.5	37	c.2301_2302insC	CCDS42179.1																																																																																				0.574	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		9	141						9	141	---	---	---	---
DPEP2	64174	broad.mit.edu	37	16	68021467	68021468	+	Frame_Shift_Ins	INS	-	-	G	rs1133090	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:68021467_68021468insG	ENST00000572888.1	-	10	2052_2053	c.1402_1403insC	c.(1402-1404)cacfs	p.H468fs	DPEP2_ENST00000412757.2_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	468			H -> D (in dbSNP:rs1133090).		arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGGGGCCATGTGGGGGGAGGAC	0.545																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1402-1404)catfs		dipeptidase 2																																				SO:0001589	frameshift_variant	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68021467_68021468insG	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.1403dupC	16.37:g.68021473_68021473dupG	ENSP00000458977:p.His468fs					DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000572888.1_Frame_Shift_Ins_p.H468fs	p.H468fs			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	12	2067_2068	-		Ovarian(137;0.192)	468		H -> D (in dbSNP:rs1133090).			B2RCF8|Q6UX92|Q8TC95	Frame_Shift_Ins	INS	ENST00000572888.1	37	c.1402_1403insC	CCDS10857.1																																																																																				0.545	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		7	383						7	383	---	---	---	---
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201|rs113994200		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1045-1047)gggfs	p.G349fs	PAFAH1B1_ENST00000572915.2_Intron|RN7SL608P_ENST00000492377.2_RNA|PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.G144fs	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(1042-1047)tcggggfs		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)																																				SO:0001589	frameshift_variant	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2583499_2583500insG	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.1050dupG	17.37:g.2583505_2583505dupG	ENSP00000380378:p.Gly349fs					PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR	p.SG348fs	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN			10	1495_1496	+			348			Interaction with dynein and dynactin.			Frame_Shift_Ins	INS	ENST00000397195.5	37	c.1044_1045insG	CCDS32528.1																																																																																				0.401	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		8	585						8	585	---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)gccfs	p.A298fs	AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		A -> T.		aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(892-894)cccfs		arachidonate 12-lipoxygenase																																				SO:0001589	frameshift_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6903739_6903740insC	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.898dupC	17.37:g.6903745_6903745dupC	ENSP00000251535:p.Ala298fs					AC027763.2_ENST00000575727.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_Intron	p.P298fs	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN			7	945_946	+			298		A -> T.	Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Frame_Shift_Ins	INS	ENST00000251535.6	37	c.892_893insC	CCDS11084.1																																																																																				0.554	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			12	684						12	684	---	---	---	---
TMEM256-PLSCR3	100529211	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C	rs534765323		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:7294058_7294059insC	ENST00000576362.1	-	6	810_811	c.653_654insG	c.(652-654)ggcfs	p.G218fs	C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000535512.1_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.G242fs					TMEM256-PLSCR3 readthrough (NMD candidate)																		CTCGGACCAGGCCCCCCCACTG	0.614																																						ENST00000535512.1																			0				endometrium(1)|kidney(2)|urinary_tract(1)	4						c.(724-726)gctfs		phospholipid scramblase 3																																				SO:0001589	frameshift_variant	57048				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding	g.chr17:7294058_7294059insC			17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.654dupG	17.37:g.7294065_7294065dupC	ENSP00000460800:p.Gly218fs					PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR	p.A242fs			Q9NRY6	PLS3_HUMAN			10	1742_1743	-		Prostate(122;0.173)	242						Frame_Shift_Ins	INS	ENST00000576362.1	37	c.725_726insG																																																																																					0.614	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000440808.1			12	212						12	212	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7798764	7798765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:7798764_7798765insC	ENST00000330494.7	+	10	1761_1762	c.1611_1612insC	c.(1612-1614)cccfs	p.P538fs	CHD3_ENST00000380358.4_Frame_Shift_Ins_p.P597fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.P538fs	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	538	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				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)				CAGATGTCCCACCCCCCCGTCC	0.574																																						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.(1786-1791)ccccccfs		chromodomain helicase DNA binding protein 3																																				SO:0001589	frameshift_variant	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.chr17:7798764_7798765insC	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.1618dupC	17.37:g.7798771_7798771dupC	ENSP00000332628:p.Pro538fs					CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs	p.PP596fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			10	1789_1790	+		Prostate(122;0.202)	537					D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Ins	INS	ENST00000330494.7	37	c.1788_1789insC	CCDS32554.1																																																																																				0.574	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		27	314						27	314	---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8222137	8222138	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:8222137_8222138insG	ENST00000361926.3	+	12	2052_2053	c.1942_1943insG	c.(1942-1944)aggfs	p.R648fs	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000582060.1_3'UTR|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.R648fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	648					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGGGTGCCGGAGGGGGGGCGTG	0.634																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1942-1944)gggfs		Rho guanine nucleotide exchange factor (GEF) 15																																				SO:0001589	frameshift_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8222137_8222138insG	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1949dupG	17.37:g.8222144_8222144dupG	ENSP00000355026:p.Arg648fs					ARHGEF15_ENST00000582060.1_3'UTR|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.G648fs	p.G648fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			12	2052_2053	+			648					A8K6G1|Q8N449|Q9H8B4	Frame_Shift_Ins	INS	ENST00000361926.3	37	c.1942_1943insG	CCDS11139.1																																																																																				0.634	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		10	200						10	200	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs562474149|rs35554312	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cccatgfs	p.M625fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.M652fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	625					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGGGGACATGGGGGGGTCTT	0.47																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1870-1875)cctgtcfs		slingshot protein phosphatase 2																																				SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963294_27963295insG	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1873dupC	17.37:g.27963301_27963301dupG	ENSP00000269033:p.Met625fs					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs	p.V625fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			14	2023_2024	-			625					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.1872_1873insC	CCDS11253.1																																																																																				0.470	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		11	210						11	210	---	---	---	---
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)cggfs	p.R76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579																																						ENST00000325874.8																			1	Unknown(1)	p.?(1)	autonomic_ganglia(1)	endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(226-228)gggfs		RAB11 family interacting protein 4 (class II)																																				SO:0001589	frameshift_variant	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29758897_29758898insG	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.232dupG	17.37:g.29758903_29758903dupG	ENSP00000312837:p.Arg76fs						p.G76fs	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN			2	455_456	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	76			EF-hand.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Frame_Shift_Ins	INS	ENST00000325874.8	37	c.226_227insG	CCDS11267.1																																																																																				0.579	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		8	225						8	225	---	---	---	---
TAF15	8148	broad.mit.edu	37	17	34171885	34171886	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:34171885_34171886insG	ENST00000588240.1	+	15	1697_1698	c.1582_1583insG	c.(1582-1584)cggfs	p.R528fs	TAF15_ENST00000311979.3_Frame_Shift_Ins_p.R525fs|TAF15_ENST00000592237.1_Splice_Site_p.G333fs	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|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)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		agACAGAAGCCGGGGGGGCTAT	0.609			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1582-1584)gggfs		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa																																				SO:0001589	frameshift_variant	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171885_34171886insG	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1589dupG	17.37:g.34171892_34171892dupG	ENSP00000466950:p.Arg528fs					TAF15_ENST00000592237.1_Splice_Site_p.TG332_splice|TAF15_ENST00000311979.3_Frame_Shift_Ins_p.G525fs	p.G528fs	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	15	1697_1698	+		Ovarian(249;0.17)	528			21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Frame_Shift_Ins	INS	ENST00000588240.1	37	c.1582_1583insG	CCDS32623.1																																																																																				0.609	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		7	84						7	84	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)gggtctfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(640-645)ggctcgfs		potassium voltage-gated channel, subfamily H (eag-related), member 4																																				SO:0001589	frameshift_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40328258_40328259insC	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.643dupG	17.37:g.40328265_40328265dupC	ENSP00000264661:p.Ser215fs					KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	974_975	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	215						Frame_Shift_Ins	INS	ENST00000264661.3	37	c.642_643insG	CCDS11420.1																																																																																				0.604	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		9	237						9	237	---	---	---	---
DHX8	1659	broad.mit.edu	37	17	41570235	41570236	+	Frame_Shift_Ins	INS	-	-	C	rs375354059		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:41570235_41570236insC	ENST00000262415.3	+	6	762_763	c.690_691insC	c.(691-693)cccfs	p.P231fs	DHX8_ENST00000540306.1_Frame_Shift_Ins_p.P231fs	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	231					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGAGTCAGAGTCCCCCCAAAGA	0.569																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(688-693)agccccfs		DEAH (Asp-Glu-Ala-His) box polypeptide 8																																				SO:0001589	frameshift_variant	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41570235_41570236insC	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.696dupC	17.37:g.41570241_41570241dupC	ENSP00000262415:p.Pro231fs					DHX8_ENST00000540306.1_Frame_Shift_Ins_p.SP230fs	p.SP230fs	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	6	762_763	+		Breast(137;0.00908)	230						Frame_Shift_Ins	INS	ENST00000262415.3	37	c.690_691insC	CCDS11464.1																																																																																				0.569	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			7	267						7	267	---	---	---	---
DUSP3	1845	broad.mit.edu	37	17	41852151	41852152	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:41852151_41852152delTG	ENST00000226004.3	-	2	343_344	c.280_281delCA	c.(280-282)cagfs	p.Q94fs	DUSP3_ENST00000397937.2_Frame_Shift_Del_p.Q53fs|DUSP3_ENST00000591618.1_5'Flank	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	94					in utero embryonic development (GO:0001701)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of JNK cascade (GO:0046329)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of mitotic cell cycle (GO:0045931)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		GTTGAACTCCTGTGTGTCGTTG	0.535																																					Esophageal Squamous(114;1511 1593 4801 6912 51717)	ENST00000226004.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7						c.(280-282)gfs		dual specificity phosphatase 3																																				SO:0001589	frameshift_variant	1845				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:41852151_41852152delTG	BC035701	CCDS11469.1	17q21	2011-06-09	2008-02-04			ENSG00000108861		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3069	protein-coding gene	gene with protein product		600183	"""vaccinia virus phosphatase VH1-related"""	VHR		7829094	Standard	NM_004090		Approved		uc002ied.4	P51452		ENST00000226004.3:c.280_281delCA	17.37:g.41852155_41852156delTG	ENSP00000226004:p.Gln94fs					DUSP3_ENST00000397937.2_Frame_Shift_Del_p.Q53fs	p.Q94fs	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.116)	2	343_344	-		Breast(137;0.00725)	94					D3DX45|Q5U0J1|Q8IYJ9	Frame_Shift_Del	DEL	ENST00000226004.3	37	c.280_281delCA	CCDS11469.1																																																																																				0.535	DUSP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453503.1	NM_004090		16	203						16	203	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:50008356_50008357insC	ENST00000285273.4	-	4	1383_1384	c.272_273insG	c.(271-273)ggcfs	p.G91fs	CA10_ENST00000340813.6_Frame_Shift_Ins_p.G97fs|CA10_ENST00000451037.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.G16fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.G91fs	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development (GO:0007420)			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TTACCTTCCTGCCCCCCGTGTT	0.49																																						ENST00000451037.2																			1	Substitution - Missense(1)	p.G91V(1)	lung(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(271-273)gagfs		carbonic anhydrase X																																				SO:0001589	frameshift_variant	56934				brain development			g.chr17:50008356_50008357insC	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.273dupG	17.37:g.50008362_50008362dupC	ENSP00000285273:p.Gly91fs					CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs	p.E91fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		3	1212_1213	-			91					B2R7J0|B4DGL6	Frame_Shift_Ins	INS	ENST00000285273.4	37	c.272_273insG	CCDS32684.1																																																																																				0.490	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		9	555						9	555	---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54428180	54428181	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:54428180_54428181insA	ENST00000318698.2	+	4	286_287	c.251_252insA	c.(250-255)tcaaaafs	p.SK84fs	ANKFN1_ENST00000566473.2_Frame_Shift_Ins_p.SK84fs	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	84										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CTCTGTCAGTCAAAAAAACATA	0.426																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(250-252)taafs		ankyrin-repeat and fibronectin type III domain containing 1																																				SO:0001589	frameshift_variant	162282							g.chr17:54428180_54428181insA	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.258dupA	17.37:g.54428187_54428187dupA	ENSP00000321627:p.Ser84fs					ANKFN1_ENST00000318698.2_Frame_Shift_Ins_p.*84fs	p.*84fs			Q8N957	ANKF1_HUMAN			4	251_252	+			84						Frame_Shift_Ins	INS	ENST00000318698.2	37	c.251_252insA	CCDS32686.1																																																																																				0.426	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		7	293						7	293	---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C	rs372503255		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:60814265_60814266insC	ENST00000311269.5	-	6	1237_1238	c.963_964insG	c.(961-966)gggacafs	p.T322fs	MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.T360fs|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.T322fs|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000544856.2_Frame_Shift_Ins_p.T321fs	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.46																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(958-963)ggcatcfs		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	162333						ligase activity|zinc ion binding	g.chr17:60814265_60814266insC	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.964dupG	17.37:g.60814271_60814271dupC	ENSP00000311496:p.Thr322fs					MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs	p.I321fs			Q8NA82	MARHA_HUMAN			7	1338_1339	-			322					D3DU09|Q8IYS7|Q8N7Z7	Frame_Shift_Ins	INS	ENST00000311269.5	37	c.960_961insG	CCDS11635.1																																																																																				0.460	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		7	844						7	844	---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60814568	60814569	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:60814568_60814569insT	ENST00000311269.5	-	6	934_935	c.660_661insA	c.(658-663)aaaggafs	p.G221fs	RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.G259fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.G221fs|MARCH10_ENST00000544856.2_Frame_Shift_Ins_p.G220fs	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	221					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTCGGGTCTCCTTTTTTGGCTC	0.51																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(655-660)aagagafs		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	162333						ligase activity|zinc ion binding	g.chr17:60814568_60814569insT	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.661dupA	17.37:g.60814574_60814574dupT	ENSP00000311496:p.Gly221fs					MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.R221fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.R221fs|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.R259fs	p.R220fs			Q8NA82	MARHA_HUMAN			7	1035_1036	-			221					D3DU09|Q8IYS7|Q8N7Z7	Frame_Shift_Ins	INS	ENST00000311269.5	37	c.657_658insA	CCDS11635.1																																																																																				0.510	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		8	663						8	663	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)caafs	p.Q1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(3709-3711)aagfs		ATP-binding cassette, sub-family A (ABC1), member 6																																				SO:0001589	frameshift_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67083603_67083604insG	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3710dupC	17.37:g.67083609_67083609dupG	ENSP00000284425:p.Gln1237fs					ABCA6_ENST00000446604.2_5'UTR	p.K1237fs	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			29	3883_3884	-	Breast(10;5.65e-12)		1237					Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Ins	INS	ENST00000284425.2	37	c.3709_3710insC	CCDS11683.1																																																																																				0.376	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		8	945						8	945	---	---	---	---
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:71223356_71223357insG	ENST00000403627.3	-	2	328_329	c.268_269insC	c.(268-270)cagfs	p.Q90fs	FAM104A_ENST00000405159.3_Frame_Shift_Ins_p.Q90fs|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583178.1_5'UTR	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416																																						ENST00000405159.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(268-270)gacfs		family with sequence similarity 104, member A																																				SO:0001589	frameshift_variant	84923							g.chr17:71223356_71223357insG	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.269dupC	17.37:g.71223363_71223363dupG	ENSP00000384648:p.Gln90fs					FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000583024.1_Intron	p.D90fs	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	332_333	-			90					B4E339	Frame_Shift_Ins	INS	ENST00000403627.3	37	c.268_269insC	CCDS11693.2																																																																																				0.416	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		7	237						7	237	---	---	---	---
AQP4	361	broad.mit.edu	37	18	24445878	24445880	+	5'Flank	DEL	TTT	TTT	-	rs68070007|rs3974653|rs529134198|rs56282359	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr18:24445878_24445880delTTT	ENST00000383168.4	-	0	0				AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_5'Flank|AQP4-AS1_ENST00000579964.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4						carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					ATTTACTTAATTTTTTTTTTTTT	0.3														1933	0.385982	0.5703	0.2522	5008	,	,		18389	0.3611		0.333	False		,,,				2504	0.3119					ENST00000568797.1																			0																																																	SO:0001631	upstream_gene_variant	147429							g.chr18:24445878_24445880delTTT	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955		18.37:g.24445887_24445889delTTT	Exception_encountered					AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA		NR_026908.1						0	53	+								P78564	RNA	DEL	ENST00000383168.4	37		CCDS11889.1																																																																																				0.300	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		6	3						6	3	---	---	---	---
INSR	3643	broad.mit.edu	37	19	7168022	7168023	+	Frame_Shift_Ins	INS	-	-	G	rs546462100	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:7168022_7168023insG	ENST00000302850.5	-	7	1708_1709	c.1566_1567insC	c.(1564-1569)cccgacfs	p.D523fs	INSR_ENST00000341500.5_Frame_Shift_Ins_p.D523fs	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	523					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCTCGGAAGTCGGGGGGCCAGT	0.475																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(1564-1569)ccacttfs		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7168022_7168023insG	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1567dupC	19.37:g.7168028_7168028dupG	ENSP00000303830:p.Asp523fs					INSR_ENST00000302850.5_Frame_Shift_Ins_p.L523fs	p.L523fs	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			7	1605_1606	-			523					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Frame_Shift_Ins	INS	ENST00000302850.5	37	c.1566_1567insC	CCDS12176.1																																																																																				0.475	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			11	294						11	294	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G	rs558504850	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctctfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.53																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23134-23139)ccctccfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064309_9064310insG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23137dupC	19.37:g.9064316_9064316dupG	ENSP00000381008:p.Ser7713fs						p.S7713fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	23339_23340	-			7715			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.23136_23137insC	CCDS54212.1																																																																																				0.530	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	511						13	511	---	---	---	---
C3P1	388503	broad.mit.edu	37	19	10160752	10160753	+	RNA	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:10160752_10160753insC	ENST00000495140.1	+	0	1411							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TAGTGGTCGTGCCCCCCACCTC	0.599																																						ENST00000495140.1																			0				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13																																														388503							g.chr19:10160752_10160753insC	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10160758_10160758dupC														0	1411	+									RNA	INS	ENST00000495140.1	37																																																																																						0.599	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		8	570						8	570	---	---	---	---
TYK2	7297	broad.mit.edu	37	19	10463112	10463113	+	Frame_Shift_Ins	INS	-	-	G	rs373614901		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:10463112_10463113insG	ENST00000525621.1	-	23	3796_3797	c.3315_3316insC	c.(3313-3318)cccacgfs	p.T1106fs	TYK2_ENST00000264818.6_Frame_Shift_Ins_p.T1106fs|TYK2_ENST00000529422.1_Intron|TYK2_ENST00000524462.1_Frame_Shift_Ins_p.T921fs	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1106	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCTCTCACCGTGGGGGGGCTCT	0.599																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3313-3318)cccgaafs		tyrosine kinase 2																																				SO:0001589	frameshift_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10463112_10463113insG		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3316dupC	19.37:g.10463119_10463119dupG	ENSP00000431885:p.Thr1106fs					TYK2_ENST00000529422.1_Intron|TYK2_ENST00000524462.1_Frame_Shift_Ins_p.E921fs|TYK2_ENST00000264818.6_Frame_Shift_Ins_p.E1106fs	p.E1106fs	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		23	3796_3797	-			1106			Protein kinase 2.		Q6QB10|Q96CH0	Frame_Shift_Ins	INS	ENST00000525621.1	37	c.3315_3316insC	CCDS12236.1																																																																																				0.599	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			11	116						11	116	---	---	---	---
ZNF878	729747	broad.mit.edu	37	19	12155624	12155625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:12155624_12155625insT	ENST00000547628.1	-	4	728_729	c.591_592insA	c.(589-594)aaacccfs	p.P198fs	CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Frame_Shift_Ins_p.P245fs|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.396																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(730-735)aacctafs		zinc finger protein 878																																				SO:0001589	frameshift_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155624_12155625insT		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.592dupA	19.37:g.12155631_12155631dupT	ENSP00000447931:p.Pro198fs					CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL197fs	p.NL244fs			C9JN71	ZN878_HUMAN			5	731_732	-			197						Frame_Shift_Ins	INS	ENST00000547628.1	37	c.732_733insA	CCDS45984.2																																																																																				0.396	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		15	710						15	710	---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15276860	15276861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:15276860_15276861insC	ENST00000263388.2	-	30	5479_5480	c.5404_5405insG	c.(5404-5406)gctfs	p.A1802fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1802					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGCTCCAGAGCCCCCCCACAG	0.569																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5404-5406)tctfs		notch 3																																				SO:0001589	frameshift_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15276860_15276861insC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5405dupG	19.37:g.15276867_15276867dupC	ENSP00000263388:p.Ala1802fs						p.S1802fs	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		30	5479_5480	-			1802					Q9UEB3|Q9UPL3|Q9Y6L8	Frame_Shift_Ins	INS	ENST00000263388.2	37	c.5404_5405insG	CCDS12326.1																																																																																				0.569	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		7	137						7	137	---	---	---	---
MPV17L2	84769	broad.mit.edu	37	19	18305818	18305819	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:18305818_18305819insC	ENST00000599612.2	+	4	586_587	c.486_487insC	c.(487-489)cccfs	p.P163fs		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	163						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						TCCTCTTCGTGCCCCCCCAATT	0.653																																						ENST00000599612.2																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(484-489)gtccccfs		MPV17 mitochondrial membrane protein-like 2																																				SO:0001589	frameshift_variant	84769					integral to membrane		g.chr19:18305818_18305819insC	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.493dupC	19.37:g.18305825_18305825dupC	ENSP00000469836:p.Pro163fs					MPV17L2_ENST00000534474.2_Frame_Shift_Ins_p.P137fs	p.VP162fs	NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN			4	586_587	+			162					Q96P34|Q96QA0|Q9BSG4	Frame_Shift_Ins	INS	ENST00000599612.2	37	c.486_487insC	CCDS42522.1																																																																																				0.653	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	NM_032683		9	184						9	184	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)ggcfs	p.G546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1636-1638)gtafs		teashirt zinc finger homeobox 3				4,4260		0,4,2128						4.2	1.0			120	7,8247		0,7,4120	no	frameshift	TSHZ3	NM_020856.2		0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879				11,12507				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769061_31769062insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1638dupG	19.37:g.31769068_31769068dupC	ENSP00000240587:p.Gly546fs						p.V546fs	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1964_1965	-	Esophageal squamous(110;0.226)		546					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1637_1638insG	CCDS12421.2																																																																																				0.559	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		14	323						14	323	---	---	---	---
CCDC97	90324	broad.mit.edu	37	19	41825517	41825518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:41825517_41825518insC	ENST00000269967.3	+	3	663_664	c.541_542insC	c.(541-543)gccfs	p.A181fs		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	181										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GCGGTTCCGGGCCCCCCTGCTA	0.644																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(541-543)cccfs		coiled-coil domain containing 97																																				SO:0001589	frameshift_variant	90324							g.chr19:41825517_41825518insC	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.547dupC	19.37:g.41825523_41825523dupC	ENSP00000269967:p.Ala181fs						p.P181fs	NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN			3	663_664	+			181					Q658N6|Q96IF3	Frame_Shift_Ins	INS	ENST00000269967.3	37	c.541_542insC	CCDS12578.1																																																																																				0.644	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		7	1209						7	1209	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43439519_43439520insC			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439525_43439525dupC						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	527	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.515	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		16	908						16	908	---	---	---	---
ZNF404	342908	broad.mit.edu	37	19	44378023	44378024	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:44378023_44378024insT	ENST00000587539.1	-	3	341_342	c.342_343insA	c.(340-345)aaacatfs	p.H115fs	ZNF404_ENST00000324394.6_Frame_Shift_Ins_p.H113fs	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	115					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)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AGGGATTTATGTTTTTTGAATA	0.332																																						ENST00000587539.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(340-345)aaataafs		zinc finger protein 404																																				SO:0001589	frameshift_variant	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44378023_44378024insT	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.343dupA	19.37:g.44378029_44378029dupT	ENSP00000466051:p.His115fs					ZNF404_ENST00000324394.6_Frame_Shift_Ins_p.*113fs	p.*115fs	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN			3	341_342	-		Prostate(69;0.0352)	115					A4FU30|K7ELF2	Frame_Shift_Ins	INS	ENST00000587539.1	37	c.342_343insA	CCDS59394.1																																																																																				0.332	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		7	487						7	487	---	---	---	---
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:45556128_45556129insC	ENST00000221455.3	+	4	375_376	c.277_278insC	c.(277-279)accfs	p.T93fs	CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000544944.2_Frame_Shift_Ins_p.T93fs	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	93					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.L96fs*17(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCCGACTACACCCCCCCTCTG	0.614																																						ENST00000544944.2																			1	Insertion - Frameshift(1)	p.L96fs*17(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(277-279)cccfs		CLK4-associating serine/arginine rich protein																																				SO:0001589	frameshift_variant	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45556128_45556129insC	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.284dupC	19.37:g.45556135_45556135dupC	ENSP00000221455:p.Thr93fs					CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs|CLASRP_ENST00000391953.4_Intron	p.P93fs			Q8N2M8	CLASR_HUMAN			3	969_970	+			93					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Frame_Shift_Ins	INS	ENST00000221455.3	37	c.277_278insC	CCDS12652.2																																																																																				0.614	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		7	200						7	200	---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:45805663_45805664insC	ENST00000262891.4	+	17	2285_2286	c.1954_1955insC	c.(1954-1956)gccfs	p.A652fs	MARK4_ENST00000300843.4_Frame_Shift_Ins_p.P679fs	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	652					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AACGGAAACCGCCCCCCGGCTG	0.639																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2032-2037)ccccccfs		MAP/microtubule affinity-regulating kinase 4																																				SO:0001589	frameshift_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45805663_45805664insC	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1960dupC	19.37:g.45805669_45805669dupC	ENSP00000262891:p.Ala652fs					MARK4_ENST00000262891.4_Frame_Shift_Ins_p.P652fs	p.PP678fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	18	2331_2332	+		all_neural(266;0.224)|Ovarian(192;0.231)	0					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Frame_Shift_Ins	INS	ENST00000262891.4	37	c.2034_2035insC	CCDS56097.1																																																																																				0.639	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		11	426						11	426	---	---	---	---
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:48737669_48737670insC	ENST00000359009.4	-	3	378_379	c.66_67insG	c.(64-69)gggacafs	p.T23fs	CARD8_ENST00000391898.3_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.D64fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.D64fs			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	23					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436																																						ENST00000391898.3																			0				endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15						c.(340-342)catfs		caspase recruitment domain family, member 8																																				SO:0001589	frameshift_variant	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48737669_48737670insC	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.67dupG	19.37:g.48737676_48737676dupC	ENSP00000351901:p.Thr23fs					CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs	p.H114fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	3	382_383	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	0					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Frame_Shift_Ins	INS	ENST00000359009.4	37	c.340_341insG																																																																																					0.436	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		10	322						10	322	---	---	---	---
SNRNP70	6625	broad.mit.edu	37	19	49589711	49589712	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:49589711_49589712insC	ENST00000598441.1	+	2	264_265	c.40_41insC	c.(40-42)gccfs	p.A14fs	SNRNP70_ENST00000221448.5_Frame_Shift_Ins_p.A14fs			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	14					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R16fs*2(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GGCCCTCTTTGCCCCCCGTGAC	0.54																																						ENST00000221448.5																			1	Insertion - Frameshift(1)	p.R16fs*2(1)	skin(1)	cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						c.(40-42)cccfs		small nuclear ribonucleoprotein 70kDa (U1)																																				SO:0001589	frameshift_variant	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49589711_49589712insC		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.46dupC	19.37:g.49589717_49589717dupC	ENSP00000472998:p.Ala14fs					SNRNP70_ENST00000598441.1_Frame_Shift_Ins_p.P14fs	p.P14fs	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN			2	236_237	+			14					B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Frame_Shift_Ins	INS	ENST00000598441.1	37	c.40_41insC	CCDS12756.1																																																																																				0.540	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		8	652						8	652	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)ccafs	p.P583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.P383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1747-1749)caafs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243063_50243064insG	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1749dupC	19.37:g.50243070_50243070dupG	ENSP00000246801:p.Pro583fs					TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	p.Q583fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1830_1831	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	583					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1748_1749insC	CCDS12780.1																																																																																				0.545	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		19	559						19	559	---	---	---	---
POLD1	5424	broad.mit.edu	37	19	50905323	50905324	+	Frame_Shift_Ins	INS	-	-	G	rs140707092|rs150702648		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:50905323_50905324insG	ENST00000440232.2	+	5	584_585	c.531_532insG	c.(532-534)gggfs	p.G178fs	POLD1_ENST00000595904.1_Frame_Shift_Ins_p.G178fs|POLD1_ENST00000599857.1_Frame_Shift_Ins_p.G178fs	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	178					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.R177R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGGACAGTCGCGGGGGGAGGGA	0.673								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			1	Substitution - coding silent(1)	p.R177R(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(529-534)cgggggfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit																																				SO:0001589	frameshift_variant	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50905323_50905324insG		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.537dupG	19.37:g.50905329_50905329dupG	ENSP00000406046:p.Gly178fs					POLD1_ENST00000599857.1_Frame_Shift_Ins_p.RG177fs|POLD1_ENST00000595904.1_Frame_Shift_Ins_p.RG177fs	p.RG177fs	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	5	584_585	+		all_neural(266;0.0571)	177		R -> H (in dbSNP:rs3218750).			Q8NER3|Q96H98	Frame_Shift_Ins	INS	ENST00000440232.2	37	c.531_532insG	CCDS12795.1																																																																																				0.673	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			8	123						8	123	---	---	---	---
GPR32	2854	broad.mit.edu	37	19	51274914	51274915	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:51274914_51274915insC	ENST00000270590.4	+	1	1194_1195	c.1057_1058insC	c.(1057-1059)gccfs	p.A353fs		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	353					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGTGGCAACGCCCCCCGGGAA	0.525																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1057-1059)cccfs		G protein-coupled receptor 32																																				SO:0001589	frameshift_variant	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274914_51274915insC	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.1063dupC	19.37:g.51274920_51274920dupC	ENSP00000270590:p.Ala353fs						p.P353fs	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	1194_1195	+		all_neural(266;0.131)	353					Q502U7|Q6NWS5	Frame_Shift_Ins	INS	ENST00000270590.4	37	c.1057_1058insC	CCDS12801.1																																																																																				0.525	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			14	288						14	288	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)gggactfs	p.T15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GTCTCACCAGTCCCCCCCAGGG	0.653																																						ENST00000301420.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(40-45)ggctggfs		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51326962_51326963insC	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.43dupG	19.37:g.51326969_51326969dupC	ENSP00000301420:p.Thr15fs					KLK1_ENST00000448701.2_5'UTR	p.W15fs	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	1	77_78	-		all_neural(266;0.0199)	15					Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Frame_Shift_Ins	INS	ENST00000301420.2	37	c.42_43insG	CCDS12804.1																																																																																				0.653	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		17	397						17	397	---	---	---	---
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:52090436_52090437insG	ENST00000262259.2	+	5	1210_1211	c.852_853insG	c.(853-855)gggfs	p.G285fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	285					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTCTGAATGTGGGGGGAGCTT	0.441																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(850-855)tgggggfs		zinc finger protein 175																																				SO:0001589	frameshift_variant	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090436_52090437insG	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.858dupG	19.37:g.52090442_52090442dupG	ENSP00000262259:p.Gly285fs					ZNF175_ENST00000436511.2_Intron	p.WG284fs	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1210_1211	+		all_neural(266;0.0299)	284					A8K9H2	Frame_Shift_Ins	INS	ENST00000262259.2	37	c.852_853insG	CCDS12837.1																																																																																				0.441	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		15	689						15	689	---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54649666	54649667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:54649666_54649667insC	ENST00000406403.1	+	8	2327_2328	c.724_725insC	c.(724-726)tccfs	p.S242fs	CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.S61fs|CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.S242fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	242					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGTCGCCACCTCCCCTCCCAGC	0.644																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(724-726)cccfs		CCR4-NOT transcription complex, subunit 3																																				SO:0001589	frameshift_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54649666_54649667insC	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.728dupC	19.37:g.54649670_54649670dupC	ENSP00000383954:p.Ser242fs					CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.P242fs|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.P61fs	p.P242fs			O75175	CNOT3_HUMAN			8	2327_2328	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		242					Q9NZN7|Q9UF76	Frame_Shift_Ins	INS	ENST00000406403.1	37	c.724_725insC	CCDS12880.1																																																																																				0.644	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		11	138						11	138	---	---	---	---
BRSK1	84446	broad.mit.edu	37	19	55800871	55800872	+	Frame_Shift_Ins	INS	-	-	G	rs142000353		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:55800871_55800872insG	ENST00000309383.1	+	4	618_619	c.341_342insG	c.(340-345)tcggggfs	p.SG114fs	BRSK1_ENST00000590333.1_Frame_Shift_Ins_p.SG130fs|BRSK1_ENST00000585418.1_Frame_Shift_Ins_p.SG114fs	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GAGCACGTCTCGGGGGGTGAGC	0.589																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(340-342)tggfs		BR serine/threonine kinase 1																																				SO:0001589	frameshift_variant	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55800871_55800872insG	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.347dupG	19.37:g.55800877_55800877dupG	ENSP00000310649:p.Ser114fs					BRSK1_ENST00000585418.1_Frame_Shift_Ins_p.W114fs|BRSK1_ENST00000590333.1_Frame_Shift_Ins_p.W130fs	p.W114fs	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	4	618_619	+		Renal(1328;0.245)	114			Protein kinase.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Frame_Shift_Ins	INS	ENST00000309383.1	37	c.341_342insG	CCDS12921.1																																																																																				0.589	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		7	195						7	195	---	---	---	---
ZNF628	89887	broad.mit.edu	37	19	55993042	55993042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:55993042delC	ENST00000598519.1	+	3	1035	c.482delC	c.(481-483)tccfs	p.S162fs	ZNF628_ENST00000391718.2_Frame_Shift_Del_p.S158fs			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	162					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AAGAACTCGTCCAGCCTGCGG	0.662																																						ENST00000598519.1																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(481-483)tcfs		zinc finger protein 628							29.0	29.0	29.0					19																	55993042		2203	4298	6501	SO:0001589	frameshift_variant	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55993042delC	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.482delC	19.37:g.55993042delC	ENSP00000469591:p.Ser162fs					ZNF628_ENST00000391718.2_Frame_Shift_Del_p.S158fs	p.S162fs	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	1035	+	Breast(117;0.155)		158					Q86X34	Frame_Shift_Del	DEL	ENST00000598519.1	37	c.482delC	CCDS33116.3																																																																																				0.662	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		31	42						31	42	---	---	---	---
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(259-261)cccfs	p.P87fs	NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.P87fs|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	87						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(256-261)gtccccfs		neurensin 2																																				SO:0001589	frameshift_variant	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:333922_333923insC	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.264dupC	20.37:g.333928_333928dupC	ENSP00000371728:p.Pro87fs					NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs	p.VP86fs	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN			4	498_499	+		all_cancers(10;0.0834)	86					A8K3B2|Q6FII5|Q9NUD3	Frame_Shift_Ins	INS	ENST00000382291.3	37	c.258_259insC	CCDS12996.1																																																																																				0.644	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		12	455						12	455	---	---	---	---
PSMF1	9491	broad.mit.edu	37	20	1145690	1145691	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:1145690_1145691insC	ENST00000335877.6	+	7	958_959	c.782_783insC	c.(781-786)ctccccfs	p.LP261fs	PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000333082.3_Frame_Shift_Ins_p.LP261fs|PSMF1_ENST00000246015.4_Intron|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000484891.1_3'UTR	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	261	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCAGACCATCTCCCCCCGCCGG	0.579																																						ENST00000335877.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						c.(781-783)cccfs		proteasome (prosome, macropain) inhibitor subunit 1 (PI31)																																				SO:0001589	frameshift_variant	9491				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding	g.chr20:1145690_1145691insC	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.788dupC	20.37:g.1145696_1145696dupC	ENSP00000338039:p.Leu261fs					PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000246015.4_Intron|PSMF1_ENST00000333082.3_Frame_Shift_Ins_p.P261fs|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000484891.1_3'UTR	p.P261fs	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN			7	958_959	+			261			Pro-rich.		A0AVQ9|D3DVW3|Q9H4I1	Frame_Shift_Ins	INS	ENST00000335877.6	37	c.782_783insC	CCDS13010.1																																																																																				0.579	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		7	260						7	260	---	---	---	---
JAG1	182	broad.mit.edu	37	20	10630923	10630924	+	Frame_Shift_Ins	INS	-	-	G	rs144204614|rs35615084		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:10630923_10630924insG	ENST00000254958.5	-	9	1720_1721	c.1205_1206insC	c.(1204-1206)ccafs	p.P402fs	JAG1_ENST00000423891.2_Frame_Shift_Ins_p.P243fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	402	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAGTCCACTGTGGGGGGCACAC	0.465									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44	GRCh37	CI983122	JAG1	I		c.(1204-1206)ccafs		jagged 1																																				SO:0001589	frameshift_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10630923_10630924insG	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1206dupC	20.37:g.10630929_10630929dupG	ENSP00000254958:p.Pro402fs					JAG1_ENST00000423891.2_Frame_Shift_Ins_p.P243fs	p.P402fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			9	1720_1721	-			402			EGF-like 5; calcium-binding (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Frame_Shift_Ins	INS	ENST00000254958.5	37	c.1205_1206insC	CCDS13112.1																																																																																				0.465	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		7	120						7	120	---	---	---	---
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gtgfs	p.V81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554																																						ENST00000217423.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16						c.(241-243)gaafs		cystatin S																																				SO:0001589	frameshift_variant	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23667825_23667826insC		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.242dupG	20.37:g.23667832_23667832dupC	ENSP00000217423:p.Val81fs						p.E81fs	NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN			2	311_312	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		81					Q9UBI5|Q9UCS9	Frame_Shift_Ins	INS	ENST00000217423.3	37	c.241_242insG	CCDS13159.1																																																																																				0.554	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		18	420						18	420	---	---	---	---
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gtgfs	p.V81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.V81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554																																						ENST00000304749.2																			0				kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(241-243)gaafs		cystatin SN																																				SO:0001589	frameshift_variant	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23729753_23729754insC	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.242dupG	20.37:g.23729760_23729760dupC	ENSP00000305731:p.Val81fs					CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	p.E81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN			2	311_312	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		81					Q96LE6|Q9UCQ6	Frame_Shift_Ins	INS	ENST00000304749.2	37	c.241_242insG	CCDS13160.1																																																																																				0.554	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		26	432						26	432	---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C	rs199845790		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:30737490_30737491insC	ENST00000398022.2	+	10	1243_1244	c.1008_1009insC	c.(1009-1011)cccfs	p.P337fs	TM9SF4_ENST00000217315.5_Frame_Shift_Ins_p.P320fs	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	337						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(955-960)agccccfs		transmembrane 9 superfamily protein member 4																																				SO:0001589	frameshift_variant	9777					integral to membrane		g.chr20:30737490_30737491insC	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1015dupC	20.37:g.30737497_30737497dupC	ENSP00000381104:p.Pro337fs					TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs	p.SP319fs			Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		10	1297_1298	+			336					B0QYT7|Q9NUA3	Frame_Shift_Ins	INS	ENST00000398022.2	37	c.957_958insC	CCDS13196.2																																																																																				0.604	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		11	99						11	99	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)accfs	p.T379fs	RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.T157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.T379fs|MIR548O2_ENST00000583129.1_RNA			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446																																						ENST00000262879.6																			1	Insertion - Frameshift(1)	p.H382fs*2(1)	lung(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1135-1137)cccfs		Ral GTPase activating protein, beta subunit (non-catalytic)																																				SO:0001589	frameshift_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37146232_37146233insC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1142dupC	20.37:g.37146239_37146239dupC	ENSP00000262879:p.Thr379fs					RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs	p.P379fs			Q86X10	RLGPB_HUMAN			8	1419_1420	+			379					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Ins	INS	ENST00000262879.6	37	c.1135_1136insC	CCDS13305.1																																																																																				0.446	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		14	238						14	238	---	---	---	---
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G	rs559154076	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)cccaatfs	p.N103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535																																					GBM(64;162 1089 31780 33427 34538)	ENST00000338380.2																			0				lung(3)|ovary(1)	4						c.(304-309)ccatttfs		secretory leukocyte peptidase inhibitor																																				SO:0001589	frameshift_variant	6590					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:43881730_43881731insG	X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"""WAP four-disulfide core domain containing"""	11092	protein-coding gene	gene with protein product	"""antileukoproteinase"""	107285	"""secretory leukocyte protease inhibitor (antileukoproteinase)"""			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.307dupC	20.37:g.43881737_43881737dupG	ENSP00000342082:p.Asn103fs						p.F103fs	NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN			3	326_327	-		Myeloproliferative disorder(115;0.0122)	103			Elastase inhibitory domain.|WAP 2.		B2R5H8|P07757	Frame_Shift_Ins	INS	ENST00000338380.2	37	c.306_307insC	CCDS13347.1																																																																																				0.535	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080494.3			17	369						17	369	---	---	---	---
RBPJL	11317	broad.mit.edu	37	20	43940237	43940238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:43940237_43940238insC	ENST00000343694.3	+	4	338_339	c.266_267insC	c.(265-270)tgccccfs	p.CP89fs	RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.CP89fs|RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.CP89fs	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	89					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AGGTTCTTCTGCCCCCCGCCCT	0.604											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(265-267)tccfs		recombination signal binding protein for immunoglobulin kappa J region-like																																				SO:0001589	frameshift_variant	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43940237_43940238insC	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.272dupC	20.37:g.43940243_43940243dupC	ENSP00000341243:p.Cys89fs		OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	920	RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.S89fs|RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.S89fs	p.S89fs	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN			4	338_339	+		Myeloproliferative disorder(115;0.0122)	89					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Frame_Shift_Ins	INS	ENST00000343694.3	37	c.266_267insC	CCDS13349.1																																																																																				0.604	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		7	217						7	217	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44680421	44680422	+	Frame_Shift_Ins	INS	-	-	G	rs138144890		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:44680421_44680422insG	ENST00000454036.2	+	18	2407_2408	c.2358_2359insG	c.(2359-2361)gggfs	p.G787fs	SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.G764fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	787					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGGGGGCCTCGGGGGGCTGCA	0.599																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(2356-2361)ctggggfs		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)																																			SO:0001589	frameshift_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44680421_44680422insG	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2364dupG	20.37:g.44680427_44680427dupG	ENSP00000387694:p.Gly787fs					SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.LG763fs	p.LG786fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			18	2434_2435	+		Myeloproliferative disorder(115;0.0122)	786					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Frame_Shift_Ins	INS	ENST00000454036.2	37	c.2358_2359insG	CCDS46610.1																																																																																				0.599	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			7	352						7	352	---	---	---	---
N6AMT1	29104	broad.mit.edu	37	21	30252215	30252216	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr21:30252215_30252216insG	ENST00000303775.5	-	4	397_398	c.372_373insC	c.(370-375)ccctatfs	p.Y125fs	N6AMT1_ENST00000351429.3_Intron	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	125	Substrate binding. {ECO:0000250}.				positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GTCACTACATAGGGGGGATTAA	0.307																																						ENST00000303775.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						c.(370-375)ccatgtfs		N-6 adenine-specific DNA methyltransferase 1 (putative)																																				SO:0001589	frameshift_variant	29104				positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	g.chr21:30252215_30252216insG	AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"""chromosome 21 open reading frame 127"", ""HemK methyltransferase family member 2"""	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.373dupC	21.37:g.30252221_30252221dupG	ENSP00000303584:p.Tyr125fs					N6AMT1_ENST00000351429.3_Intron	p.C125fs	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN			4	397_398	-			125			Substrate binding (By similarity).		Q96F73	Frame_Shift_Ins	INS	ENST00000303775.5	37	c.372_373insC	CCDS33526.1																																																																																				0.307	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171738.1	NM_013240		7	270						7	270	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)cccgaafs	p.E1093fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1093	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			1	Substitution - Missense(1)	p.E1093K(1)	skin(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3274-3279)ccaaaafs		Down syndrome cell adhesion molecule																																				SO:0001589	frameshift_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41514614_41514615insG	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3277dupC	21.37:g.41514621_41514621dupG	ENSP00000383303:p.Glu1093fs						p.PK1092fs	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			18	3753_3754	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1092			Fibronectin type-III 3.		O60468	Frame_Shift_Ins	INS	ENST00000400454.1	37	c.3276_3277insC	CCDS42929.1																																																																																				0.406	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		8	507						8	507	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:18022285_18022286insC	ENST00000400585.2	+	16	2402_2403	c.1964_1965insC	c.(1963-1968)gtccccfs	p.VP655fs	CECR2_ENST00000262608.8_Frame_Shift_Ins_p.VP797fs|CECR2_ENST00000400573.5_Frame_Shift_Ins_p.VP796fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2389-2391)gccfs		cat eye syndrome chromosome region, candidate 2																																				SO:0001589	frameshift_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022285_18022286insC	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1971dupC	22.37:g.18022292_18022292dupC	ENSP00000383428:p.Val655fs					CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs	p.A797fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2390_2391	+		all_epithelial(15;0.139)	838					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Ins	INS	ENST00000400585.2	37	c.2390_2391insC																																																																																					0.609	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		9	273						9	273	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18022443	18022444	+	Frame_Shift_Ins	INS	-	-	G	rs540078259	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:18022443_18022444insG	ENST00000400585.2	+	16	2560_2561	c.2122_2123insG	c.(2122-2124)cggfs	p.R708fs	CECR2_ENST00000262608.8_Frame_Shift_Ins_p.R850fs|CECR2_ENST00000400573.5_Frame_Shift_Ins_p.R849fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	891					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCAGGCTCTTCGGGGGGTGCAG	0.634																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2548-2550)gggfs		cat eye syndrome chromosome region, candidate 2																																				SO:0001589	frameshift_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022443_18022444insG	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2128dupG	22.37:g.18022449_18022449dupG	ENSP00000383428:p.Arg708fs					CECR2_ENST00000400585.2_Frame_Shift_Ins_p.G708fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.G849fs	p.G850fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2548_2549	+		all_epithelial(15;0.139)	891					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Ins	INS	ENST00000400585.2	37	c.2548_2549insG																																																																																					0.634	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		7	185						7	185	---	---	---	---
DGCR14	8220	broad.mit.edu	37	22	19124912	19124913	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:19124912_19124913insC	ENST00000252137.6	-	8	1001_1002	c.958_959insG	c.(958-960)gagfs	p.E320fs		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	320					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GTTCTCAACCTCCCCCCAGGTC	0.594																																						ENST00000252137.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(958-960)ggtfs		DiGeorge syndrome critical region gene 14																																				SO:0001589	frameshift_variant	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19124912_19124913insC	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.959dupG	22.37:g.19124918_19124918dupC	ENSP00000252137:p.Glu320fs						p.G320fs	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			8	1001_1002	-	Colorectal(54;0.0993)		320					Q49AH7|Q9BTZ4	Frame_Shift_Ins	INS	ENST00000252137.6	37	c.958_959insG	CCDS13756.1																																																																																				0.594	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			7	346						7	346	---	---	---	---
GNAZ	2781	broad.mit.edu	37	22	23438487	23438488	+	Frame_Shift_Ins	INS	-	-	G	rs201266285	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:23438487_23438488insG	ENST00000248996.4	+	2	1271_1272	c.605_606insG	c.(604-609)gtggggfs	p.VG202fs	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	202					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		ATGGTGGACGTGGGGGGGCAGA	0.574																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(604-606)gggfs		guanine nucleotide binding protein (G protein), alpha z polypeptide																																				SO:0001589	frameshift_variant	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438487_23438488insG		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.612dupG	22.37:g.23438494_23438494dupG	ENSP00000248996:p.Val202fs					RTDR1_ENST00000216036.4_Intron	p.G202fs	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	1271_1272	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		202					B2R6C1|Q4QRJ6	Frame_Shift_Ins	INS	ENST00000248996.4	37	c.605_606insG	CCDS13804.1																																																																																				0.574	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		9	93						9	93	---	---	---	---
ZNF70	7621	broad.mit.edu	37	22	24087085	24087086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:24087085_24087086insG	ENST00000341976.3	-	2	702_703	c.242_243insC	c.(241-243)ccafs	p.P81fs		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GTCTGGTTCCTGGGGGGATACT	0.495																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(241-243)cggfs		zinc finger protein 70																																				SO:0001589	frameshift_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24087085_24087086insG	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.243dupC	22.37:g.24087091_24087091dupG	ENSP00000339314:p.Pro81fs						p.R81fs	NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN			2	702_703	-			81						Frame_Shift_Ins	INS	ENST00000341976.3	37	c.242_243insC	CCDS13812.1																																																																																				0.495	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		8	1194						8	1194	---	---	---	---
NEFH	4744	broad.mit.edu	37	22	29885754	29885777	+	In_Frame_Del	DEL	AAGTCCCCAGTGAAGGAAGAAGCA	AAGTCCCCAGTGAAGGAAGAAGCA	-	rs139600064|rs531060059	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:29885754_29885777delAAGTCCCCAGTGAAGGAAGAAGCA	ENST00000310624.6	+	4	2158_2181	c.2125_2148delAAGTCCCCAGTGAAGGAAGAAGCA	c.(2125-2148)aagtccccagtgaaggaagaagcadel	p.KSPVKEEA709del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	715	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|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)	p.E715K(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTG	0.562																																						ENST00000310624.6																			1	Substitution - Missense(1)	p.E715K(1)	skin(1)	cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(2125-2148)del		neurofilament, heavy polypeptide																																				SO:0001651	inframe_deletion	4744				cell death|nervous system development	neurofilament		g.chr22:29885754_29885777delAAGTCCCCAGTGAAGGAAGAAGCA		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.2125_2148delAAGTCCCCAGTGAAGGAAGAAGCA	22.37:g.29885754_29885777delAAGTCCCCAGTGAAGGAAGAAGCA	ENSP00000311997:p.Lys709_Ala716del						p.KSPVKEEA709del	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			4	2158_2181	+			715			30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	c.2125_2148delAAGTCCCCAGTGAAGGAAGAAGCA	CCDS13858.1																																																																																				0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		9	364						9	364	---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30415990	30415991	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:30415990_30415991insC	ENST00000401950.2	+	17	2684_2685	c.2342_2343insC	c.(2341-2346)gtccccfs	p.VP781fs	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Frame_Shift_Ins_p.VP781fs|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Frame_Shift_Ins_p.VP781fs|MTMR3_ENST00000406629.1_Frame_Shift_Ins_p.VP781fs|MTMR3_ENST00000323630.5_Frame_Shift_Ins_p.VP645fs	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	781					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCTCTCCAGGTCCCCCCCAGGG	0.554																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(2341-2343)gccfs		myotubularin related protein 3																																				SO:0001589	frameshift_variant	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30415990_30415991insC	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2349dupC	22.37:g.30415997_30415997dupC	ENSP00000384651:p.Val781fs					MTMR3_ENST00000323630.5_Frame_Shift_Ins_p.A645fs|MTMR3_ENST00000406629.1_Frame_Shift_Ins_p.A781fs|MTMR3_ENST00000401950.2_Frame_Shift_Ins_p.A781fs|MTMR3_ENST00000351488.3_Frame_Shift_Ins_p.A781fs|CTA-85E5.10_ENST00000429350.1_RNA	p.A781fs	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	2670_2671	+			781					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Frame_Shift_Ins	INS	ENST00000401950.2	37	c.2342_2343insC	CCDS13870.1																																																																																				0.554	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		7	278						7	278	---	---	---	---
TMPRSS6	164656	broad.mit.edu	37	22	37499435	37499436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:37499435_37499436insG	ENST00000346753.3	-	2	165_166	c.49_50insC	c.(49-51)cagfs	p.Q17fs	TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.Q8fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.Q17fs|TMPRSS6_ENST00000381792.2_Frame_Shift_Ins_p.Q8fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.Q8fs	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	17					angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCCAGCCACCTGGGGGGCCTCG	0.658																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(22-24)ggtfs		transmembrane protease, serine 6																																				SO:0001589	frameshift_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37499435_37499436insG	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.50dupC	22.37:g.37499441_37499441dupG	ENSP00000334962:p.Gln17fs					TMPRSS6_ENST00000346753.3_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.G8fs	p.G8fs			Q8IU80	TMPS6_HUMAN			2	162_163	-			17					B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Frame_Shift_Ins	INS	ENST00000346753.3	37	c.22_23insC	CCDS13941.1																																																																																				0.658	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		12	930						12	930	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:40681766_40681767insC	ENST00000454349.2	+	12	3911_3912	c.3700_3701insC	c.(3700-3702)tccfs	p.S1234fs	TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.S430fs|TNRC6B_ENST00000335727.9_Frame_Shift_Ins_p.S1124fs|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.S430fs|TNRC6B_ENST00000497559.1_3'UTR	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1234	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CCAGTTTATTTCCCCCCAGGTA	0.45																																						ENST00000454349.2																			0				breast(1)	1						c.(3700-3702)cccfs		trinucleotide repeat containing 6B																																				SO:0001589	frameshift_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40681766_40681767insC	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.3706dupC	22.37:g.40681772_40681772dupC	ENSP00000401946:p.Ser1234fs					TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs	p.P1234fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			12	3911_3912	+			1234					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Frame_Shift_Ins	INS	ENST00000454349.2	37	c.3700_3701insC	CCDS54533.1																																																																																				0.450	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				14	718						14	718	---	---	---	---
MEI1	150365	broad.mit.edu	37	22	42159249	42159250	+	Frame_Shift_Ins	INS	-	-	C	rs192926292		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:42159249_42159250insC	ENST00000401548.3	+	19	2232_2233	c.2192_2193insC	c.(2191-2196)cgccccfs	p.RP731fs	MEI1_ENST00000540880.1_Frame_Shift_Ins_p.RP49fs|MEI1_ENST00000540833.1_Frame_Shift_Ins_p.RP471fs|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Frame_Shift_Ins_p.RP99fs	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGGCGAGCGCCCCCCACTGG	0.535											OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(2191-2193)cccfs		meiosis inhibitor 1																																				SO:0001589	frameshift_variant	150365						binding	g.chr22:42159249_42159250insC	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2198dupC	22.37:g.42159255_42159255dupC	ENSP00000384115:p.Arg731fs		OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	906	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Frame_Shift_Ins_p.P49fs|MEI1_ENST00000540833.1_Frame_Shift_Ins_p.P471fs|MEI1_ENST00000400107.1_Frame_Shift_Ins_p.P99fs	p.P731fs	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			19	2232_2233	+			731						Frame_Shift_Ins	INS	ENST00000401548.3	37	c.2192_2193insC	CCDS46718.1																																																																																				0.535	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		9	248						9	248	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42271636	42271637	+	Frame_Shift_Ins	INS	-	-	C	rs79727196		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:42271636_42271637insC	ENST00000361204.4	+	7	1460_1461	c.1294_1295insC	c.(1294-1296)tccfs	p.S432fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	432	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTTCTGATGTCCCCCCCAGCC	0.52																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1294-1296)cccfs		sterol regulatory element binding transcription factor 2																																				SO:0001589	frameshift_variant	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42271636_42271637insC	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1301dupC	22.37:g.42271643_42271643dupC	ENSP00000354476:p.Ser432fs						p.P432fs	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			7	1460_1461	+			432			Interaction with LMNA (By similarity).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Frame_Shift_Ins	INS	ENST00000361204.4	37	c.1294_1295insC	CCDS14023.1																																																																																				0.520	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		9	356						9	356	---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-93)caccccfs	p.HP30fs	TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.HP30fs|TBC1D22A_ENST00000355704.3_Intron	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(88-90)cccfs		TBC1 domain family, member 22A																																				SO:0001589	frameshift_variant	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47188443_47188444insC	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.96dupC	22.37:g.47188450_47188450dupC	ENSP00000336724:p.His30fs					TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000472791.1_3'UTR	p.P30fs	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	2	255_256	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	30					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Frame_Shift_Ins	INS	ENST00000337137.4	37	c.89_90insC	CCDS14078.1																																																																																				0.569	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		30	605						30	605	---	---	---	---
ZNF645	158506	broad.mit.edu	37	X	22291220	22291221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:22291220_22291221insG	ENST00000323684.1	+	1	156_157	c.112_113insG	c.(112-114)tggfs	p.W38fs		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	38					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGGTTACCGTTGGGGGGACATT	0.351																																						ENST00000323684.1																			0				cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(112-114)gggfs		zinc finger protein 645																																				SO:0001589	frameshift_variant	158506					intracellular	zinc ion binding	g.chrX:22291220_22291221insG	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.118dupG	X.37:g.22291226_22291226dupG	ENSP00000323348:p.Trp38fs						p.G38fs	NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN			1	156_157	+			38					A0AV29|A0AV31|E3SBK4|Q6DJY9	Frame_Shift_Ins	INS	ENST00000323684.1	37	c.112_113insG	CCDS14205.1																																																																																				0.351	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		10	324						10	324	---	---	---	---
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	RNA	INS	-	-	G	rs41305745		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:48159107_48159108insG	ENST00000608568.1	-	0	580					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.49																																						ENST00000376909.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						c.(424-426)cggfs																																								280660							g.chrX:48159107_48159108insG	BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48159113_48159113dupG						SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs	p.R142fs							6	487_488	-									Frame_Shift_Ins	INS	ENST00000608568.1	37	c.425_426insC																																																																																					0.490	SSX9-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000472372.1	NR_073393		10	373						10	373	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)gaafs	p.E161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.E73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.48																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(481-483)acafs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48207024_48207025insC	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.482dupG	X.37:g.48207030_48207030dupC	ENSP00000298396:p.Glu161fs					SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	p.T161fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN			7	533_534	-			161					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.481_482insG	CCDS14291.1																																																																																				0.480	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		7	1011						7	1011	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)ccgfs	p.P142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.P142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.P54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			2	Substitution - Missense(2)	p.P142Q(2)	lung(2)	endometrium(3)|large_intestine(1)|lung(9)	13						c.(424-426)cggfs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48209462_48209463insG	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.426dupC	X.37:g.48209468_48209468dupG	ENSP00000298396:p.Pro142fs					SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	p.R142fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN			6	477_478	-			142					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.425_426insC	CCDS14291.1																																																																																				0.495	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		15	563						15	563	---	---	---	---
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)ggafs	p.G482fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""		"""papillary renal, alveolar soft part sarcoma, renal"""	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1444-1446)gccfs		transcription factor binding to IGHM enhancer 3																																				SO:0001589	frameshift_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48887951_48887952insC	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1446dupG	X.37:g.48887959_48887959dupC	ENSP00000314129:p.Gly482fs					TFE3_ENST00000493583.1_5'UTR	p.A482fs	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN			10	1704_1705	-			482					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Ins	INS	ENST00000315869.7	37	c.1445_1446insG	CCDS14315.3																																																																																				0.649	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		24	219						24	219	---	---	---	---
IL2RG	3561	broad.mit.edu	37	X	70327613	70327614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:70327613_70327614insG	ENST00000374202.2	-	8	1173_1174	c.1082_1083insC	c.(1081-1083)ccafs	p.P361fs	IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.P90fs|CXorf65_ENST00000374251.5_5'Flank|IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.P171fs	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGGTGTAACATGGGGGGGCCCA	0.584									Severe Combined Immunodeficiency, X-linked																													ENST00000374202.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15						c.(1081-1083)ctgfs		interleukin 2 receptor, gamma	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)																																			SO:0001589	frameshift_variant	3561	Severe Combined Immunodeficiency, X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70327613_70327614insG	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.1083dupC	X.37:g.70327620_70327620dupG	ENSP00000363318:p.Pro361fs					IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.L171fs|IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.L90fs	p.L361fs	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN			8	1173_1174	-	Renal(35;0.156)		361					Q5FC12	Frame_Shift_Ins	INS	ENST00000374202.2	37	c.1082_1083insC	CCDS14406.1																																																																																				0.584	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2			8	134						8	134	---	---	---	---
COL4A5	1287	broad.mit.edu	37	X	107834821	107834822	+	Frame_Shift_Ins	INS	-	-	C	rs281874665|rs281874666|rs104886321|rs104886113		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:107834821_107834822insC	ENST00000361603.2	+	21	1614_1615	c.1370_1371insC	c.(1369-1374)ggccccfs	p.GP457fs	COL4A5_ENST00000328300.6_Frame_Shift_Ins_p.GP457fs	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	457	Triple-helical region.		Missing (in APSX). {ECO:0000269|PubMed:9848783}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCCTCCAGGCCCCCCAGGAT	0.406									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99	GRCh37	CD961911	COL4A5	D		c.(1369-1371)gccfs		collagen, type IV, alpha 5																																				SO:0001589	frameshift_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107834821_107834822insC	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1376dupC	X.37:g.107834827_107834827dupC	ENSP00000354505:p.Gly457fs					COL4A5_ENST00000361603.2_Frame_Shift_Ins_p.A457fs	p.A457fs	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			21	1614_1615	+			457		Missing (in APSX).	Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Frame_Shift_Ins	INS	ENST00000361603.2	37	c.1370_1371insC	CCDS14543.1																																																																																				0.406	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			9	520						9	520	---	---	---	---
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C	rs186832346		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)tccfs	p.S310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(928-930)cccfs		zinc finger, CCHC domain containing 12																																				SO:0001589	frameshift_variant	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960135_117960136insC	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.934dupC	X.37:g.117960141_117960141dupC	ENSP00000308921:p.Ser310fs						p.P310fs	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	1435_1436	+			310					B3KV48|Q6PID5|Q8N1C1	Frame_Shift_Ins	INS	ENST00000310164.2	37	c.928_929insC	CCDS14574.1																																																																																				0.564	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		13	358						13	358	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150842424	150842425	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:150842424_150842425insC	ENST00000370357.4	+	15	2186_2187	c.1941_1942insC	c.(1942-1944)cccfs	p.P648fs		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	648						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			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)					CGTATCAAGGGCCCCCCGTGAA	0.455																																						ENST00000370357.4																			0				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.(1939-1944)ggccccfs		PAS domain containing 1																																				SO:0001589	frameshift_variant	139135					nucleus	signal transducer activity	g.chrX:150842424_150842425insC	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.1947dupC	X.37:g.150842430_150842430dupC	ENSP00000359382:p.Pro648fs						p.GP647fs	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			15	2186_2187	+	Acute lymphoblastic leukemia(192;6.56e-05)		647					Q3MNE0|Q69HD7|Q8N7X9	Frame_Shift_Ins	INS	ENST00000370357.4	37	c.1941_1942insC	CCDS35431.1																																																																																				0.455	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		12	332						12	332	---	---	---	---
F8	2157	broad.mit.edu	37	X	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-	rs387906455		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)aatfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413																																						ENST00000360256.4																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.N1460fs*5(2)|p.N1460fs*2(2)	haematopoietic_and_lymphoid_tissue(2)|breast(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CD910498	F8	D		c.(4378-4380)atfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						86.0	84.0	85.0					X																	154157686		2203	4300	6503	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157686delT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4379delA	X.37:g.154157686delT	ENSP00000353393:p.Asn1461fs						p.N1461fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4579	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1461			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.4379delA	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			8	438						8	438	---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65372850	65372851	+	Frame_Shift_Del	DEL	TC	TC	-	rs139764373		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:65372850_65372851delTC	ENST00000330909.8	-	15	2466_2467	c.2467_2468delGA	c.(2467-2469)gaafs	p.E823fs	MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	823	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGAATTGATTTCTCTCTCTCTC	0.401																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2467-2469)afs		membrane associated guanylate kinase, WW and PDZ domain containing 1																																				SO:0001589	frameshift_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65372850_65372851delTC	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000330909.8:c.2467_2468delGA	3.37:g.65372860_65372861delTC	ENSP00000331157:p.Glu823fs					MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000497477.2_Intron	p.E823fs	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	15	2466_2467	-		Lung NSC(201;0.0016)	823			PDZ 4.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Frame_Shift_Del	DEL	ENST00000330909.8	37	c.2467_2468delGA	CCDS33781.1																																																																																				0.401	MAGI1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349127.2	NM_004742		8	138						8	138	---	---	---	---
ZNF876P	642280	broad.mit.edu	37	4	206717	206736	+	RNA	DEL	GGGACCCGCGCTCCTGTCGG	GGGACCCGCGCTCCTGTCGG	-	rs534308162|rs558749809|rs577192664|rs202223370	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:206717_206736delGGGACCCGCGCTCCTGTCGG	ENST00000356347.3	+	0	172					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CCTCCGGTGAGGGACCCGCGCTCCTGTCGGGGGACCCGCG	0.718														271	0.0541134	0.1566	0.0331	5008	,	,		16027	0.002		0.0288	False		,,,				2504	0.0102					ENST00000356347.3																			0																																																			642280							g.chr4:206717_206736delGGGACCCGCGCTCCTGTCGG	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.206717_206736delGGGACCCGCGCTCCTGTCGG								NR_027481.1						0	172	+									RNA	DEL	ENST00000356347.3	37																																																																																						0.718	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		3	5						3	5	---	---	---	---
SLC12A9	56996	broad.mit.edu	37	7	100459450	100459451	+	Frame_Shift_Ins	INS	-	-	C	rs143756205	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:100459450_100459451insC	ENST00000354161.3	+	12	1753_1754	c.1628_1629insC	c.(1627-1632)ggcgccfs	p.A544fs	SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.A455fs|SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.A455fs|SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.A544fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.A544fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	544					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AACCCCCGGGGCGCCCTGCCTC	0.649																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(1627-1629)ggcfs		solute carrier family 12, member 9																																				SO:0001589	frameshift_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100459450_100459451insC	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1629dupC	7.37:g.100459451_100459451dupC	ENSP00000275730:p.Ala544fs					SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.G543fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.G543fs|SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.G454fs|SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.G454fs	p.G543fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			12	1753_1754	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		543					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Frame_Shift_Ins	INS	ENST00000354161.3	37	c.1628_1629insC	CCDS5707.1																																																																																				0.649	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		7	114						7	114	---	---	---	---
ZNF79	7633	broad.mit.edu	37	9	130206998	130207012	+	In_Frame_Del	DEL	AGGCCTTCAGTTACT	AGGCCTTCAGTTACT	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:130206998_130207012delAGGCCTTCAGTTACT	ENST00000342483.5	+	5	1425_1439	c.1019_1033delAGGCCTTCAGTTACT	c.(1018-1035)aaggccttcagttactgc>agc	p.340_345KAFSYC>S	ZNF79_ENST00000543471.1_In_Frame_Del_p.316_321KAFSYC>S|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	340				C -> G (in Ref. 4; CAA46339). {ECO:0000305}.	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)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAGTGTGGGAAGGCCTTCAGTTACTGCGCAGCGTT	0.577																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(1018-1035)agc>a		zinc finger protein 79																																				SO:0001651	inframe_deletion	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130206998_130207012delAGGCCTTCAGTTACT	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1019_1033delAGGCCTTCAGTTACT	9.37:g.130206998_130207012delAGGCCTTCAGTTACT	ENSP00000362446:p.Lys340_Cys345delinsSer					ZNF79_ENST00000543471.1_In_Frame_Del_p.KAFSYC316del	p.KAFSYC340del	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1425_1439	+			340					Q5VVW1|Q96NV1	In_Frame_Del	DEL	ENST00000342483.5	37	c.1019_1033delAGGCCTTCAGTTACT	CCDS6871.1																																																																																				0.577	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		40	113						40	113	---	---	---	---
DUSP3	1845	broad.mit.edu	37	17	41852151	41852152	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:41852151_41852152delTG	ENST00000226004.3	-	2	343_344	c.280_281delCA	c.(280-282)cagfs	p.Q94fs	DUSP3_ENST00000397937.2_Frame_Shift_Del_p.Q53fs|DUSP3_ENST00000591618.1_5'Flank	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	94					in utero embryonic development (GO:0001701)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of JNK cascade (GO:0046329)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of mitotic cell cycle (GO:0045931)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		GTTGAACTCCTGTGTGTCGTTG	0.535																																					Esophageal Squamous(114;1511 1593 4801 6912 51717)	ENST00000226004.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7						c.(280-282)gfs		dual specificity phosphatase 3																																				SO:0001589	frameshift_variant	1845				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:41852151_41852152delTG	BC035701	CCDS11469.1	17q21	2011-06-09	2008-02-04			ENSG00000108861		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3069	protein-coding gene	gene with protein product		600183	"""vaccinia virus phosphatase VH1-related"""	VHR		7829094	Standard	NM_004090		Approved		uc002ied.4	P51452		ENST00000226004.3:c.280_281delCA	17.37:g.41852155_41852156delTG	ENSP00000226004:p.Gln94fs					DUSP3_ENST00000397937.2_Frame_Shift_Del_p.Q53fs	p.Q94fs	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.116)	2	343_344	-		Breast(137;0.00725)	94					D3DX45|Q5U0J1|Q8IYJ9	Frame_Shift_Del	DEL	ENST00000226004.3	37	c.280_281delCA	CCDS11469.1																																																																																				0.535	DUSP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453503.1	NM_004090		15	159						15	159	---	---	---	---
ZNF628	89887	broad.mit.edu	37	19	55993042	55993042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:55993042delC	ENST00000598519.1	+	3	1035	c.482delC	c.(481-483)tccfs	p.S162fs	ZNF628_ENST00000391718.2_Frame_Shift_Del_p.S158fs			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	162					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AAGAACTCGTCCAGCCTGCGG	0.662																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(469-471)tcfs		zinc finger protein 628							29.0	29.0	29.0					19																	55993042		2203	4298	6501	SO:0001589	frameshift_variant	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55993042delC	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.482delC	19.37:g.55993042delC	ENSP00000469591:p.Ser162fs					ZNF628_ENST00000598519.1_Frame_Shift_Del_p.S162fs	p.S158fs			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	1035	+	Breast(117;0.155)		158					Q86X34	Frame_Shift_Del	DEL	ENST00000598519.1	37	c.470delC	CCDS33116.3																																																																																				0.662	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		19	34						19	34	---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:56099187delT	ENST00000608263.1	-	1	736	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_ENST00000608440.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608158.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608425.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.K25fs	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(73-75)aafs		CCCTC-binding factor (zinc finger protein)-like							231.0	258.0	249.0					20																	56099187		2203	4300	6503	SO:0001589	frameshift_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099187delT		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.75delA	20.37:g.56099187delT	ENSP00000476783:p.Lys25fs					CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs	p.K25fs			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	736	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		25					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Del	DEL	ENST00000608263.1	37	c.75delA	CCDS13459.1																																																																																				0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		10	1082						10	1082	---	---	---	---
NOC2L	26155	broad.mit.edu	37	1	880150	880151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr1:880150_880151insC	ENST00000327044.6	-	19	2222_2223	c.2173_2174insG	c.(2173-2175)gccfs	p.A725fs		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	725	Asp/Glu-rich (acidic).				apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTCCCCAGGGGCCAGCCCCGCC	0.614																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(2173-2175)cccfs		nucleolar complex associated 2 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	26155					nucleolus	protein binding	g.chr1:880150_880151insC	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.2174dupG	1.37:g.880152_880152dupC	ENSP00000317992:p.Ala725fs						p.P725fs	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	19	2222_2223	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	725			Asp/Glu-rich (acidic).		Q5SVA3|Q9BTN6	Frame_Shift_Ins	INS	ENST00000327044.6	37	c.2173_2174insG	CCDS3.1																																																																																				0.614	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		3	6						3	6	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142699941	142699942	+	lincRNA	DEL	TA	TA	-	rs376314079|rs376520780		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr1:142699941_142699942delTA	ENST00000610091.1	-	0	3130																											GAGGAAACACtatatatatata	0.248																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142699941_142699942delTA																													1.37:g.142699951_142699952delTA														0	2077	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.248	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	8						5	8	---	---	---	---
ARHGEF3	50650	broad.mit.edu	37	3	56789130	56789131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:56789130_56789131insG	ENST00000296315.3	-	3	421_422	c.253_254insC	c.(253-255)cgafs	p.R85fs	ARHGEF3_ENST00000495373.1_Frame_Shift_Ins_p.R85fs|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000413728.2_Frame_Shift_Ins_p.R91fs|ARHGEF3_ENST00000496106.1_Frame_Shift_Ins_p.R91fs|ARHGEF3_ENST00000497267.1_Frame_Shift_Ins_p.R56fs|ARHGEF3_ENST00000338458.4_Frame_Shift_Ins_p.R117fs	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	85					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GGACCAGGGTCGGGGGGCGAGG	0.579																																						ENST00000413728.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25						c.(271-273)accfs		Rho guanine nucleotide exchange factor (GEF) 3																																				SO:0001589	frameshift_variant	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56789130_56789131insG	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.254dupC	3.37:g.56789136_56789136dupG	ENSP00000296315:p.Arg85fs					ARHGEF3_ENST00000496106.1_Frame_Shift_Ins_p.T91fs|ARHGEF3_ENST00000296315.3_Frame_Shift_Ins_p.T85fs|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000497267.1_Frame_Shift_Ins_p.T56fs|ARHGEF3_ENST00000495373.1_Frame_Shift_Ins_p.T85fs|ARHGEF3_ENST00000338458.4_Frame_Shift_Ins_p.T117fs	p.T91fs	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	3	814_815	-			85					A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Frame_Shift_Ins	INS	ENST00000296315.3	37	c.271_272insC	CCDS2878.1																																																																																				0.579	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		7	382						7	382	---	---	---	---
ZNF717	100131827	broad.mit.edu	37	3	75790810	75790811	+	Frame_Shift_Ins	INS	-	-	T	rs199577560	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:75790810_75790811insT	ENST00000477374.1	-	3	305_306	c.134_135insA	c.(133-135)accfs	p.T45fs	ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000422325.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000478296.1_5'UTR			Q9BY31	ZN717_HUMAN	zinc finger protein 717	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCCTGTACAGGGTCCTCTGAGC	0.51																																						ENST00000422325.1																			0				autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						c.(133-135)actfs		zinc finger protein 717																																				SO:0001589	frameshift_variant	100131827				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:75790810_75790811insT	AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000477374.1:c.134_135insA	3.37:g.75790810_75790811insT	ENSP00000417902:p.Thr45fs					ZNF717_ENST00000478296.1_5'UTR|ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000491507.1_5'UTR	p.T45fs	NM_001128223.1	NP_001121695.1	C9JSV9	C9JSV9_HUMAN			3	456_457	-			45						Frame_Shift_Ins	INS	ENST00000477374.1	37	c.134_135insA																																																																																					0.510	ZNF717-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000352767.1	NM_001128223		4	3						4	3	---	---	---	---
SLC9C1	285335	broad.mit.edu	37	3	111936361	111936362	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:111936361_111936362insT	ENST00000305815.5	-	15	1969_1970	c.1717_1718insA	c.(1717-1719)acafs	p.T573fs	SLC9C1_ENST00000487372.1_Frame_Shift_Ins_p.T525fs	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	573					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AAAGGTAACTGTTTTTTGGCTT	0.297																																						ENST00000305815.5																			0											c.(1717-1719)agtfs		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1																																				SO:0001589	frameshift_variant	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111936361_111936362insT	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1718dupA	3.37:g.111936367_111936367dupT	ENSP00000306627:p.Thr573fs					SLC9C1_ENST00000487372.1_Frame_Shift_Ins_p.S525fs	p.S573fs	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			15	1969_1970	-			573					Q6ZRP4|Q7RTP2	Frame_Shift_Ins	INS	ENST00000305815.5	37	c.1717_1718insA	CCDS33817.1																																																																																				0.297	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		7	149						7	149	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134851847	134851848	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:134851847_134851848insC	ENST00000398015.3	+	5	1623_1624	c.1253_1254insC	c.(1252-1257)ttccccfs	p.FP418fs	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	418	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AAGAGTCCCTTCCCCCCACAGC	0.579																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1252-1254)tccfs		EPH receptor B1																																				SO:0001589	frameshift_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134851847_134851848insC	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1259dupC	3.37:g.134851853_134851853dupC	ENSP00000381097:p.Phe418fs					EPHB1_ENST00000493838.1_5'UTR	p.S418fs	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			5	1623_1624	+			418			Fibronectin type-III 1.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Frame_Shift_Ins	INS	ENST00000398015.3	37	c.1253_1254insC	CCDS46921.1																																																																																				0.579	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		8	270						8	270	---	---	---	---
MME	4311	broad.mit.edu	37	3	154884713	154884714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:154884713_154884714insC	ENST00000460393.1	+	18	1803_1804	c.1683_1684insC	c.(1684-1686)cccfs	p.P562fs	MME_ENST00000462745.1_Frame_Shift_Ins_p.P562fs|MME_ENST00000493237.1_Frame_Shift_Ins_p.P562fs|MME_ENST00000360490.2_Frame_Shift_Ins_p.P562fs|MME_ENST00000492661.1_Frame_Shift_Ins_p.P562fs|MME-AS1_ENST00000484721.1_RNA	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	562					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.Q561H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GCATTCTGCAGCCCCCCTTCTT	0.446																																						ENST00000460393.1																			1	Substitution - Missense(1)	p.Q561H(1)	lung(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1681-1686)caccccfs		membrane metallo-endopeptidase	Candoxatril(DB00616)																																			SO:0001589	frameshift_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154884713_154884714insC		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1689dupC	3.37:g.154884719_154884719dupC	ENSP00000418525:p.Pro562fs					MME_ENST00000492661.1_Frame_Shift_Ins_p.HP561fs|MME_ENST00000493237.1_Frame_Shift_Ins_p.HP561fs|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000462745.1_Frame_Shift_Ins_p.HP561fs|MME_ENST00000360490.2_Frame_Shift_Ins_p.HP561fs	p.HP561fs	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		18	1803_1804	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	561					A8K6U6|D3DNJ9|Q3MIX4	Frame_Shift_Ins	INS	ENST00000460393.1	37	c.1683_1684insC	CCDS3172.1																																																																																				0.446	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		9	420						9	420	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195690462	195690463	+	RNA	INS	-	-	G	rs201480883		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:195690462_195690463insG	ENST00000427841.1	-	0	2203					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		catgcgcaacaggggactgtaa	0.366																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			255812							g.chr3:195690462_195690463insG	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195690466_195690466dupG								NR_003264.2						0	2203	-									RNA	INS	ENST00000427841.1	37																																																																																						0.366	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	6						3	6	---	---	---	---
IGFBP7	3490	broad.mit.edu	37	4	57907076	57907077	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:57907076_57907077insG	ENST00000295666.4	-	2	531_532	c.498_499insC	c.(496-501)cccaagfs	p.K167fs	IGFBP7_ENST00000537922.1_Frame_Shift_Ins_p.K167fs|IGFBP7_ENST00000512512.1_5'UTR	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	167	Ig-like C2-type.				cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAGATGTCCTTGGGGGGCGTCA	0.505																																						ENST00000295666.4																			0				central_nervous_system(1)|endometrium(1)|lung(3)	5						c.(496-501)ccaggafs		insulin-like growth factor binding protein 7	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	3490				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding	g.chr4:57907076_57907077insG	S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"""Immunoglobulin superfamily / I-set domain containing"""	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.499dupC	4.37:g.57907082_57907082dupG	ENSP00000295666:p.Lys167fs					IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Frame_Shift_Ins_p.G167fs	p.G167fs	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN			2	531_532	-	Glioma(25;0.08)|all_neural(26;0.181)		167			Ig-like C2-type.		B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Frame_Shift_Ins	INS	ENST00000295666.4	37	c.498_499insC	CCDS3512.1																																																																																				0.505	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250693.1			7	202						7	202	---	---	---	---
CXCL9	4283	broad.mit.edu	37	4	76924806	76924806	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:76924806delT	ENST00000264888.5	-	4	361	c.323delA	c.(322-324)aagfs	p.K109fs	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	109					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|defense response (GO:0006952)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|cytokine activity (GO:0005125)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CAGAACTTTCTTTTTTTGATG	0.333																																						ENST00000264888.5																			0				large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11						c.(322-324)agfs		chemokine (C-X-C motif) ligand 9							169.0	158.0	162.0					4																	76924806		2202	4298	6500	SO:0001589	frameshift_variant	4283				cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity	g.chr4:76924806delT	X72755	CCDS34014.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000138755		"""Endogenous ligands"""	7098	protein-coding gene	gene with protein product		601704	"""monokine induced by gamma interferon"""	CMK, MIG		8476424, 9730616	Standard	NM_002416		Approved	SCYB9, Humig, crg-10	uc003hjh.1	Q07325		ENST00000264888.5:c.323delA	4.37:g.76924806delT	ENSP00000354901:p.Lys109fs					RP11-630D6.5_ENST00000501239.2_RNA	p.K109fs	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		4	361	-			109					Q503B4	Frame_Shift_Del	DEL	ENST00000264888.5	37	c.323delA	CCDS34014.1																																																																																				0.333	CXCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362819.1			8	715						8	715	---	---	---	---
RP11-242J7.1	0	broad.mit.edu	37	4	185536410	185536413	+	lincRNA	DEL	TTTG	TTTG	-	rs141045634	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:185536410_185536413delTTTG	ENST00000522554.1	-	0	292																											CAAAGCCGATtttgtttgtttgtt	0.451														576	0.115016	0.0318	0.1974	5008	,	,		25388	0.0982		0.169	False		,,,				2504	0.1309					ENST00000522554.1																			0																																																			0							g.chr4:185536410_185536413delTTTG																													4.37:g.185536418_185536421delTTTG														0	292	-									RNA	DEL	ENST00000522554.1	37																																																																																						0.451	RP11-242J7.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000374071.1			4	6						4	6	---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149755744	149755745	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr5:149755744_149755745insC	ENST00000504761.2	+	13	1993_1994	c.1993_1994insC	c.(1993-1995)gccfs	p.A665fs	TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.A588fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000451292.1_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.A588fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.A665fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	665			A -> P (in dbSNP:rs2071240). {ECO:0000269|PubMed:15019983, ECO:0000269|PubMed:8563749, ECO:0000269|PubMed:9074926, ECO:0000269|PubMed:9096354}.		skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCACCCAAGCCCCCCGGAAA	0.584																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1993-1995)cccfs		Treacher Collins-Franceschetti syndrome 1																																				SO:0001589	frameshift_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755744_149755745insC		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1999dupC	5.37:g.149755750_149755750dupC	ENSP00000421655:p.Ala665fs					TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.P665fs	p.P665fs			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2101_2102	+		all_hematologic(541;0.224)	665		A -> P (in dbSNP:rs2071240).			A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Frame_Shift_Ins	INS	ENST00000504761.2	37	c.1993_1994insC	CCDS54936.1																																																																																				0.584	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		9	454						9	454	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26422387	26422388	+	RNA	INS	-	-	CTTCCTCCTCCTCCT	rs141260282	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:26422387_26422388insCTTCCTCCTCCTCCT	ENST00000466808.2	+	0	41_42							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											CGGCCAGCCTCCCTCCTCCTCC	0.589														93	0.0185703	0.0144	0.0144	5008	,	,		16333	0.002		0.0358	False		,,,				2504	0.0266					ENST00000466808.2																			0																																																			54718							g.chr6:26422387_26422388insCTTCCTCCTCCTCCT	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422387_26422388insCTTCCTCCTCCTCCT														0	41_42	+								A6NEF4	RNA	INS	ENST00000466808.2	37																																																																																						0.589	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		7	103						7	103	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76112242	76112243	+	Frame_Shift_Ins	INS	-	-	C	rs143934697		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr7:76112242_76112243insC	ENST00000324432.5	+	5	1196_1197	c.686_687insC	c.(685-690)caccccfs	p.HP229fs	DTX2_ENST00000413936.2_Frame_Shift_Ins_p.HP229fs|DTX2_ENST00000307569.8_Frame_Shift_Ins_p.HP229fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.HP138fs|DTX2_ENST00000430490.2_Frame_Shift_Ins_p.HP229fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.HP229fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	229					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GTCCCCCAGCACCCCCCACACA	0.649																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(685-687)cccfs		deltex homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112242_76112243insC		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.692dupC	7.37:g.76112248_76112248dupC	ENSP00000322885:p.His229fs					DTX2_ENST00000430490.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.P138fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000413936.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000307569.8_Frame_Shift_Ins_p.P229fs	p.P229fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1196_1197	+			229					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Frame_Shift_Ins	INS	ENST00000324432.5	37	c.686_687insC	CCDS5587.1																																																																																				0.649	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			7	220						7	220	---	---	---	---
MROH5	389690	broad.mit.edu	37	8	142445062	142445063	+	RNA	INS	-	-	G	rs544786714|rs35650977	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr8:142445062_142445063insG	ENST00000606664.1	+	0	418_419				MROH5_ENST00000430863.1_RNA																							TGGGACGGGCTGGGGGCCCTGG	0.644													GGGGGG|GGGGG|GGGGGG|deletion	3286	0.65615	0.8752	0.5447	5008	,	,		15031	0.4514		0.6491	False		,,,				2504	0.6575					ENST00000606664.1																			0																																																			389690							g.chr8:142445062_142445063insG																													8.37:g.142445067_142445067dupG						MROH5_ENST00000430863.1_RNA								0	418_419	+									RNA	INS	ENST00000606664.1	37																																																																																						0.644	CTD-3064M3.7-001	KNOWN	non_canonical_TEC|basic	antisense	antisense	OTTHUMT00000470872.1			4	2						4	2	---	---	---	---
ZNF79	7633	broad.mit.edu	37	9	130206998	130207012	+	In_Frame_Del	DEL	AGGCCTTCAGTTACT	AGGCCTTCAGTTACT	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:130206998_130207012delAGGCCTTCAGTTACT	ENST00000342483.5	+	5	1425_1439	c.1019_1033delAGGCCTTCAGTTACT	c.(1018-1035)aaggccttcagttactgc>agc	p.340_345KAFSYC>S	ZNF79_ENST00000543471.1_In_Frame_Del_p.316_321KAFSYC>S|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	340				C -> G (in Ref. 4; CAA46339). {ECO:0000305}.	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)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAGTGTGGGAAGGCCTTCAGTTACTGCGCAGCGTT	0.577																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(1018-1035)agc>a		zinc finger protein 79																																				SO:0001651	inframe_deletion	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130206998_130207012delAGGCCTTCAGTTACT	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1019_1033delAGGCCTTCAGTTACT	9.37:g.130206998_130207012delAGGCCTTCAGTTACT	ENSP00000362446:p.Lys340_Cys345delinsSer					ZNF79_ENST00000543471.1_In_Frame_Del_p.KAFSYC316del	p.KAFSYC340del	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1425_1439	+			340					Q5VVW1|Q96NV1	In_Frame_Del	DEL	ENST00000342483.5	37	c.1019_1033delAGGCCTTCAGTTACT	CCDS6871.1																																																																																				0.577	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		96	280						96	280	---	---	---	---
APBB1	322	broad.mit.edu	37	11	6423807	6423808	+	Splice_Site	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr11:6423807_6423808insC	ENST00000609360.1	-	7	1351_1352	c.1252_1253insG	c.(1252-1254)gaa>gGaa	p.E418fs	APBB1_ENST00000299402.6_Splice_Site_p.E418fs|APBB1_ENST00000389906.2_Splice_Site_p.E418fs|APBB1_ENST00000608645.1_Splice_Site_p.E159fs|APBB1_ENST00000530885.1_Splice_Site_p.E198fs|APBB1_ENST00000609331.1_Splice_Site_p.E183fs|APBB1_ENST00000608394.1_Splice_Site_p.E159fs|APBB1_ENST00000311051.3_Splice_Site_p.E418fs|APBB1_ENST00000608655.1_Splice_Site_p.E198fs|APBB1_ENST00000608704.1_Splice_Site_p.E159fs|APBB1_ENST00000529519.1_Intron	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	418	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGTCCTTACTTCCCCCCAGCCC	0.584																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.e7+1		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)																																				SO:0001630	splice_region_variant	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6423807_6423808insC	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1254+1->G	11.37:g.6423813_6423813dupC						APBB1_ENST00000311051.3_Splice_Site_p.R418_splice|APBB1_ENST00000299402.6_Splice_Site_p.R418_splice|APBB1_ENST00000530885.1_Splice_Site_p.R198_splice|APBB1_ENST00000533407.1_Splice_Site_p.R159_splice|APBB1_ENST00000524626.1_5'UTR	p.R418_splice	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	7	1351_1352	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	418			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Splice_Site	INS	ENST00000609360.1	37	c.1254_splice																																																																																					0.584	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164	Frame_Shift_Ins	11	409						11	409	---	---	---	---
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs202225573|rs142447712		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr11:66272154_66272155insC	ENST00000360510.2	+	17	2015_2016	c.1950_1951insC	c.(1951-1953)cccfs	p.P651fs	DPP3_ENST00000531863.1_Frame_Shift_Ins_p.P671fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.P621fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000532677.1_Frame_Shift_Ins_p.P670fs			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	651					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(2005-2010)gcccccfs		dipeptidyl-peptidase 3																																				SO:0001589	frameshift_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66272154_66272155insC	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1956dupC	11.37:g.66272160_66272160dupC	ENSP00000353701:p.Pro651fs					DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs	p.AP669fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			17	2408_2409	+			650					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Frame_Shift_Ins	INS	ENST00000360510.2	37	c.2007_2008insC	CCDS8141.1																																																																																				0.579	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			8	233						8	233	---	---	---	---
BBS1	582	broad.mit.edu	37	11	66299155	66299156	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr11:66299155_66299156insC	ENST00000318312.7	+	16	1688_1689	c.1637_1638insC	c.(1636-1641)taccccfs	p.YP546fs	BBS1_ENST00000393994.2_Frame_Shift_Ins_p.YP417fs|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Frame_Shift_Ins_p.YP449fs|CTD-3074O7.11_ENST00000419755.3_Frame_Shift_Ins_p.YP583fs	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	546					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GGGCTCAACTACCCCCTGGAGA	0.54									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	ENST00000419755.3																			0											c.(1747-1749)tccfs																																						SO:0001589	frameshift_variant	0		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr11:66299155_66299156insC	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1642dupC	11.37:g.66299160_66299160dupC	ENSP00000317469:p.Tyr546fs					BBS1_ENST00000318312.7_Frame_Shift_Ins_p.S546fs|BBS1_ENST00000455748.2_Frame_Shift_Ins_p.S449fs|BBS1_ENST00000393994.2_Frame_Shift_Ins_p.S417fs|ZDHHC24_ENST00000526986.1_Intron	p.S583fs							16	1826_1827	+								Q32MM9|Q32MN0|Q96SN4	Frame_Shift_Ins	INS	ENST00000318312.7	37	c.1748_1749insC	CCDS8142.1																																																																																				0.540	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			8	1010						8	1010	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6701714	6701715	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr12:6701714_6701715insA	ENST00000357008.2	-	19	2955_2956	c.2792_2793insT	c.(2791-2793)ttgfs	p.L931fs	CHD4_ENST00000544040.1_Frame_Shift_Ins_p.L924fs|CHD4_ENST00000544484.1_Frame_Shift_Ins_p.L928fs|CHD4_ENST00000309577.6_Frame_Shift_Ins_p.L931fs	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	931					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CAAACTCCTCCAAAAAACCTTC	0.436																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(2791-2793)tgafs		chromodomain helicase DNA binding protein 4																																				SO:0001589	frameshift_variant	1108				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|zinc ion binding	g.chr12:6701714_6701715insA	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2793dupT	12.37:g.6701720_6701720dupA	ENSP00000349508:p.Leu931fs					CHD4_ENST00000357008.2_Frame_Shift_Ins_p.*931fs|CHD4_ENST00000544484.1_Frame_Shift_Ins_p.*928fs|CHD4_ENST00000544040.1_Frame_Shift_Ins_p.*924fs	p.*931fs			Q14839	CHD4_HUMAN			19	2955_2956	-			931					Q8IXZ5	Frame_Shift_Ins	INS	ENST00000357008.2	37	c.2792_2793insT	CCDS8552.1																																																																																				0.436	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		9	698						9	698	---	---	---	---
TROAP	10024	broad.mit.edu	37	12	49725380	49725381	+	Frame_Shift_Ins	INS	-	-	C	rs78835037		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr12:49725380_49725381insC	ENST00000257909.3	+	15	2393_2394	c.2317_2318insC	c.(2317-2319)gccfs	p.A773fs	TROAP_ENST00000547923.1_Frame_Shift_Ins_p.A452fs|TROAP_ENST00000551245.1_Frame_Shift_Ins_p.A863fs	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	773					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGGTTCTGCTGCCCCCCAGGGC	0.55											OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000551245.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(2587-2589)cccfs		trophinin associated protein																																				SO:0001589	frameshift_variant	10024				cell adhesion	cytoplasm		g.chr12:49725380_49725381insC	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.2323dupC	12.37:g.49725386_49725386dupC	ENSP00000257909:p.Ala773fs		OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964	TROAP_ENST00000257909.3_Frame_Shift_Ins_p.P773fs|TROAP_ENST00000547923.1_Frame_Shift_Ins_p.P452fs	p.P863fs			Q12815	TROAP_HUMAN			14	2698_2699	+			0					F8VSF9|Q6PJU7|Q8N5B2	Frame_Shift_Ins	INS	ENST00000257909.3	37	c.2587_2588insC	CCDS8784.1																																																																																				0.550	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		9	409						9	409	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112601004	112601005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr12:112601004_112601005insC	ENST00000430131.2	-	74	12840_12841	c.11695_11696insG	c.(11695-11697)gccfs	p.A3899fs	HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.A4149fs|HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.A4175fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3899	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CATCTCCAGGGCCCCCCAGAAG	0.614																																						ENST00000550722.1																			0											c.(12523-12525)cctfs		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	283450							g.chr12:112601004_112601005insC	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11696dupG	12.37:g.112601010_112601010dupC	ENSP00000404379:p.Ala3899fs					HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.P3899fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P4149fs	p.P4175fs	NM_001109662.3	NP_001103132.3					75	12918_12919	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37	c.12523_12524insG																																																																																					0.614	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		8	135						8	135	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			646405							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			4	7						4	7	---	---	---	---
LRRC16B	90668	broad.mit.edu	37	14	24532702	24532703	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr14:24532702_24532703insC	ENST00000342740.5	+	31	3093_3094	c.2939_2940insC	c.(2938-2943)cgccccfs	p.RP980fs	LRRC16B_ENST00000334420.7_Frame_Shift_Ins_p.RP76fs	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	980						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGGAGGCCCCGCCCCCCCAGGA	0.594																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(2938-2940)cccfs		leucine rich repeat containing 16B																																				SO:0001589	frameshift_variant	90668							g.chr14:24532702_24532703insC	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2946dupC	14.37:g.24532709_24532709dupC	ENSP00000340467:p.Arg980fs					LRRC16B_ENST00000334420.7_Frame_Shift_Ins_p.P76fs	p.P980fs	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	31	3093_3094	+			980					Q8TEF7|Q96HS9	Frame_Shift_Ins	INS	ENST00000342740.5	37	c.2939_2940insC	CCDS32054.1																																																																																				0.594	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		9	105						9	105	---	---	---	---
RBM25	58517	broad.mit.edu	37	14	73572734	73572737	+	Frame_Shift_Del	DEL	ACGA	ACGA	-	rs538459054	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr14:73572734_73572737delACGA	ENST00000261973.7	+	11	1607_1610	c.1322_1325delACGA	c.(1321-1326)tacgaafs	p.YE441fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.YE441fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	441	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GAAGATGCATACGAACGAAGAAAA	0.422																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1321-1326)tafs		RNA binding motif protein 25																																				SO:0001589	frameshift_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73572734_73572737delACGA	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1322_1325delACGA	14.37:g.73572738_73572741delACGA	ENSP00000261973:p.Tyr441fs					RBM25_ENST00000527432.1_Frame_Shift_Del_p.YE441fs	p.YE441fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	11	1607_1610	+			441			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Frame_Shift_Del	DEL	ENST00000261973.7	37	c.1322_1325delACGA	CCDS32113.1																																																																																				0.422	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		7	499						7	499	---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45457005	45457006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:45457005_45457006insC	ENST00000321429.4	+	35	4969_4970	c.4562_4563insC	c.(4561-4566)ggccccfs	p.GP1521fs	DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.GP1521fs|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.GP1167fs	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1521					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.G1524fs*26(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TTTAGCTGTGGCCCCCCTGGCA	0.545																																						ENST00000321429.4																			1	Insertion - Frameshift(1)	p.G1524fs*26(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(4561-4563)gccfs		dual oxidase 1																																				SO:0001589	frameshift_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45457005_45457006insC	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4568dupC	15.37:g.45457011_45457011dupC	ENSP00000317997:p.Gly1521fs					DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.A1167fs|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.A1521fs	p.A1521fs	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	35	4969_4970	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1521					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Frame_Shift_Ins	INS	ENST00000321429.4	37	c.4562_4563insC	CCDS32221.1																																																																																				0.545	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		8	879						8	879	---	---	---	---
ERN2	10595	broad.mit.edu	37	16	23718095	23718096	+	Frame_Shift_Ins	INS	-	-	G	rs143761786|rs201055598		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:23718095_23718096insG	ENST00000457008.2	-	6	504_505	c.466_467insC	c.(466-468)cgcfs	p.R156fs	ERN2_ENST00000256797.4_Frame_Shift_Ins_p.R204fs					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AATGTAGAGGCGGGGGGTGGAG	0.604																																						ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(610-612)cctfs		endoplasmic reticulum to nucleus signaling 2				47,4201		1,45,2078						-0.1	0.8			55	97,8145		0,97,4024	no	frameshift	ERN2	NM_033266.3		1,142,6102	A1A1,A1R,RR		1.1769,1.1064,1.1529				144,12346				SO:0001589	frameshift_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23718095_23718096insG	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.467dupC	16.37:g.23718101_23718101dupG	ENSP00000413812:p.Arg156fs					ERN2_ENST00000457008.2_Frame_Shift_Ins_p.P156fs	p.P204fs	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	6	778_779	-			156						Frame_Shift_Ins	INS	ENST00000457008.2	37	c.610_611insC																																																																																					0.604	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			8	360						8	360	---	---	---	---
DUSP3	1845	broad.mit.edu	37	17	41852151	41852152	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr17:41852151_41852152delTG	ENST00000226004.3	-	2	343_344	c.280_281delCA	c.(280-282)cagfs	p.Q94fs	DUSP3_ENST00000397937.2_Frame_Shift_Del_p.Q53fs|DUSP3_ENST00000591618.1_5'Flank	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	94					in utero embryonic development (GO:0001701)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of JNK cascade (GO:0046329)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of mitotic cell cycle (GO:0045931)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		GTTGAACTCCTGTGTGTCGTTG	0.535																																					Esophageal Squamous(114;1511 1593 4801 6912 51717)	ENST00000226004.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7						c.(280-282)gfs		dual specificity phosphatase 3																																				SO:0001589	frameshift_variant	1845				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:41852151_41852152delTG	BC035701	CCDS11469.1	17q21	2011-06-09	2008-02-04			ENSG00000108861		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3069	protein-coding gene	gene with protein product		600183	"""vaccinia virus phosphatase VH1-related"""	VHR		7829094	Standard	NM_004090		Approved		uc002ied.4	P51452		ENST00000226004.3:c.280_281delCA	17.37:g.41852155_41852156delTG	ENSP00000226004:p.Gln94fs					DUSP3_ENST00000397937.2_Frame_Shift_Del_p.Q53fs	p.Q94fs	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.116)	2	343_344	-		Breast(137;0.00725)	94					D3DX45|Q5U0J1|Q8IYJ9	Frame_Shift_Del	DEL	ENST00000226004.3	37	c.280_281delCA	CCDS11469.1																																																																																				0.535	DUSP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453503.1	NM_004090		16	203						16	203	---	---	---	---
CCDC97	90324	broad.mit.edu	37	19	41825594	41825595	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:41825594_41825595insC	ENST00000269967.3	+	3	740_741	c.618_619insC	c.(619-621)cccfs	p.P207fs		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	207										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CAACCCACCAGCCCCCCAAGCC	0.649																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(616-621)caccccfs		coiled-coil domain containing 97																																				SO:0001589	frameshift_variant	90324							g.chr19:41825594_41825595insC	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.624dupC	19.37:g.41825600_41825600dupC	ENSP00000269967:p.Pro207fs						p.HP206fs	NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN			3	740_741	+			206					Q658N6|Q96IF3	Frame_Shift_Ins	INS	ENST00000269967.3	37	c.618_619insC	CCDS12578.1																																																																																				0.649	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		8	361						8	361	---	---	---	---
BCKDHA	593	broad.mit.edu	37	19	41916543	41916544	+	Splice_Site	INS	-	-	C	rs398123489		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:41916543_41916544insC	ENST00000269980.2	+	2	478_479	c.110_111insC	c.(109-114)cacccc>caCcccc	p.HP37fs	CTC-435M10.3_ENST00000604424.1_3'UTR|BCKDHA_ENST00000457836.2_Intron|BCKDHA_ENST00000595085.1_Splice_Site_p.HP71fs|CTC-435M10.3_ENST00000540732.1_Splice_Site_p.HP71fs	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	37					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CTTCCCCAGCACCCCCCCAGGC	0.609																																						ENST00000269980.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						c.e2-1		branched chain keto acid dehydrogenase E1, alpha polypeptide																																				SO:0001630	splice_region_variant	593				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	g.chr19:41916543_41916544insC	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.109-1->C	19.37:g.41916550_41916550dupC						BCKDHA_ENST00000595085.1_Splice_Site_p.P71_splice|CTC-435M10.3_ENST00000540732.1_Splice_Site_p.P71_splice|BCKDHA_ENST00000457836.2_Intron	p.P37_splice	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN			2	478_479	+			37					B4DP47|E7EW46|Q16034|Q16472	Splice_Site	INS	ENST00000269980.2	37	c.108_splice	CCDS12581.1																																																																																				0.609	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709	Frame_Shift_Ins	10	122						10	122	---	---	---	---
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:45556128_45556129insC	ENST00000221455.3	+	4	375_376	c.277_278insC	c.(277-279)accfs	p.T93fs	CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000544944.2_Frame_Shift_Ins_p.T93fs	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	93					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.L96fs*17(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCCGACTACACCCCCCCTCTG	0.614																																						ENST00000544944.2																			1	Insertion - Frameshift(1)	p.L96fs*17(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(277-279)cccfs		CLK4-associating serine/arginine rich protein																																				SO:0001589	frameshift_variant	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45556128_45556129insC	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.284dupC	19.37:g.45556135_45556135dupC	ENSP00000221455:p.Thr93fs					CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs	p.P93fs			Q8N2M8	CLASR_HUMAN			3	969_970	+			93					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Frame_Shift_Ins	INS	ENST00000221455.3	37	c.277_278insC	CCDS12652.2																																																																																				0.614	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		7	200						7	200	---	---	---	---
POLD1	5424	broad.mit.edu	37	19	50905323	50905324	+	Frame_Shift_Ins	INS	-	-	G	rs140707092|rs150702648		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:50905323_50905324insG	ENST00000440232.2	+	5	584_585	c.531_532insG	c.(532-534)gggfs	p.G178fs	POLD1_ENST00000595904.1_Frame_Shift_Ins_p.G178fs|POLD1_ENST00000599857.1_Frame_Shift_Ins_p.G178fs	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	178					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.R177R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGGACAGTCGCGGGGGGAGGGA	0.673								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			1	Substitution - coding silent(1)	p.R177R(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(529-534)cgggggfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit																																				SO:0001589	frameshift_variant	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50905323_50905324insG		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.537dupG	19.37:g.50905329_50905329dupG	ENSP00000406046:p.Gly178fs					POLD1_ENST00000599857.1_Frame_Shift_Ins_p.RG177fs|POLD1_ENST00000595904.1_Frame_Shift_Ins_p.RG177fs	p.RG177fs	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	5	584_585	+		all_neural(266;0.0571)	177		R -> H (in dbSNP:rs3218750).			Q8NER3|Q96H98	Frame_Shift_Ins	INS	ENST00000440232.2	37	c.531_532insG	CCDS12795.1																																																																																				0.673	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			8	123						8	123	---	---	---	---
ZNF628	89887	broad.mit.edu	37	19	55993042	55993042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:55993042delC	ENST00000598519.1	+	3	1035	c.482delC	c.(481-483)tccfs	p.S162fs	ZNF628_ENST00000391718.2_Frame_Shift_Del_p.S158fs			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	162					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AAGAACTCGTCCAGCCTGCGG	0.662																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(469-471)tcfs		zinc finger protein 628							29.0	29.0	29.0					19																	55993042		2203	4298	6501	SO:0001589	frameshift_variant	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55993042delC	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.482delC	19.37:g.55993042delC	ENSP00000469591:p.Ser162fs					ZNF628_ENST00000598519.1_Frame_Shift_Del_p.S162fs	p.S158fs			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	1035	+	Breast(117;0.155)		158					Q86X34	Frame_Shift_Del	DEL	ENST00000598519.1	37	c.470delC	CCDS33116.3																																																																																				0.662	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		31	42						31	42	---	---	---	---
JAG1	182	broad.mit.edu	37	20	10630923	10630924	+	Frame_Shift_Ins	INS	-	-	G	rs144204614|rs35615084		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr20:10630923_10630924insG	ENST00000254958.5	-	9	1720_1721	c.1205_1206insC	c.(1204-1206)ccafs	p.P402fs	JAG1_ENST00000423891.2_Frame_Shift_Ins_p.P243fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	402	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAGTCCACTGTGGGGGGCACAC	0.465									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44	GRCh37	CI983122	JAG1	I		c.(1204-1206)ccafs		jagged 1																																				SO:0001589	frameshift_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10630923_10630924insG	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1206dupC	20.37:g.10630929_10630929dupG	ENSP00000254958:p.Pro402fs					JAG1_ENST00000423891.2_Frame_Shift_Ins_p.P243fs	p.P402fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			9	1720_1721	-			402			EGF-like 5; calcium-binding (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Frame_Shift_Ins	INS	ENST00000254958.5	37	c.1205_1206insC	CCDS13112.1																																																																																				0.465	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		7	120						7	120	---	---	---	---
RBPJL	11317	broad.mit.edu	37	20	43940237	43940238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr20:43940237_43940238insC	ENST00000343694.3	+	4	338_339	c.266_267insC	c.(265-270)tgccccfs	p.CP89fs	RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.CP89fs|RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.CP89fs	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	89					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AGGTTCTTCTGCCCCCCGCCCT	0.604											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(265-267)tccfs		recombination signal binding protein for immunoglobulin kappa J region-like																																				SO:0001589	frameshift_variant	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43940237_43940238insC	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.272dupC	20.37:g.43940243_43940243dupC	ENSP00000341243:p.Cys89fs		OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	920	RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.S89fs|RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.S89fs	p.S89fs	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN			4	338_339	+		Myeloproliferative disorder(115;0.0122)	89					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Frame_Shift_Ins	INS	ENST00000343694.3	37	c.266_267insC	CCDS13349.1																																																																																				0.604	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		7	217						7	217	---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109792735	109792736	+	In_Frame_Ins	INS	-	-	CGC	rs377757908|rs59201433|rs144034706	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr1:109792735_109792736insCGC	ENST00000271332.3	+	1	95_96	c.34_35insCGC	c.(34-36)acg>aCGCcg	p.16_17insP		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	16					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCCTCCCAACgccgccgccg	0.752														2846	0.568291	0.4198	0.6311	5008	,	,		10222	0.5298		0.7276	False		,,,				2504	0.6002				NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(34-36)gcc>CGCgcc		cadherin, EGF LAG seven-pass G-type receptor 2				1363,1439		473,417,511						3.0	0.1		dbSNP_130	6	4135,1897		1679,777,560	no	coding	CELSR2	NM_001408.2		2152,1194,1071	A1A1,A1R,RR		31.4489,48.6438,37.7632				5498,3336				SO:0001652	inframe_insertion	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109792735_109792736insCGC	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.47_49dupCGC	1.37:g.109792742_109792744dupCGC	ENSP00000271332:p.Pro16_Pro16dup						p.11_12insR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	95_96	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	11					Q5T2Y7|Q92566	In_Frame_Ins	INS	ENST00000271332.3	37	c.34_35insCGC	CCDS796.1																																																																																				0.752	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		10	9						10	9	---	---	---	---
ZNF876P	642280	broad.mit.edu	37	4	206717	206736	+	RNA	DEL	GGGACCCGCGCTCCTGTCGG	GGGACCCGCGCTCCTGTCGG	-	rs534308162|rs558749809|rs577192664|rs202223370	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:206717_206736delGGGACCCGCGCTCCTGTCGG	ENST00000356347.3	+	0	172					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CCTCCGGTGAGGGACCCGCGCTCCTGTCGGGGGACCCGCG	0.718														271	0.0541134	0.1566	0.0331	5008	,	,		16027	0.002		0.0288	False		,,,				2504	0.0102					ENST00000356347.3																			0																																																			642280							g.chr4:206717_206736delGGGACCCGCGCTCCTGTCGG	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.206717_206736delGGGACCCGCGCTCCTGTCGG								NR_027481.1						0	172	+									RNA	DEL	ENST00000356347.3	37																																																																																						0.718	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		3	5						3	5	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1388504	1388505	+	Frame_Shift_Del	DEL	CG	CG	-	rs568118449|rs528384190|rs115485610	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:1388504_1388505delCG	ENST00000324803.4	+	1	3165_3166	c.205_206delCG	c.(205-207)cgtfs	p.R69fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	69					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCTCACACACGTGTCCATGTG	0.629														54	0.0107827	0.0174	0.0043	5008	,	,		20699	0.002		0.0169	False		,,,				2504	0.0092					ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(205-207)tfs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388504_1388505delCG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.205_206delCG	4.37:g.1388504_1388505delCG	ENSP00000323978:p.Arg69fs						p.R69fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3165_3166	+			69					Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	c.205_206delCG	CCDS3349.1																																																																																				0.629	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		14	919						14	919	---	---	---	---
LOC101928516	101928516	broad.mit.edu	37	6	74942038	74942041	+	lincRNA	DEL	TTCA	TTCA	-	rs199906763|rs62439875	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:74942038_74942041delTTCA	ENST00000435946.1	+	0	138																											ccttccttccttcatccctctctc	0.51																																						ENST00000435946.1																			0																																																			101928516							g.chr6:74942038_74942041delTTCA																													6.37:g.74942038_74942041delTTCA														0	138	+									RNA	DEL	ENST00000435946.1	37																																																																																						0.510	RP11-554D15.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000041234.1			5	1						5	1	---	---	---	---
SLC12A9	56996	broad.mit.edu	37	7	100459450	100459451	+	Frame_Shift_Ins	INS	-	-	C	rs143756205	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr7:100459450_100459451insC	ENST00000354161.3	+	12	1753_1754	c.1628_1629insC	c.(1627-1632)ggcgccfs	p.A544fs	SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.A455fs|SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.A455fs|SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.A544fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.A544fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	544					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AACCCCCGGGGCGCCCTGCCTC	0.649																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(1627-1629)ggcfs		solute carrier family 12, member 9																																				SO:0001589	frameshift_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100459450_100459451insC	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1629dupC	7.37:g.100459451_100459451dupC	ENSP00000275730:p.Ala544fs					SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.G454fs|SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.G454fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.G543fs|SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.G543fs	p.G543fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			12	1753_1754	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		543					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Frame_Shift_Ins	INS	ENST00000354161.3	37	c.1628_1629insC	CCDS5707.1																																																																																				0.649	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		7	114						7	114	---	---	---	---
MROH5	389690	broad.mit.edu	37	8	142445062	142445063	+	RNA	INS	-	-	G	rs544786714|rs35650977	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr8:142445062_142445063insG	ENST00000606664.1	+	0	418_419				MROH5_ENST00000430863.1_RNA																							TGGGACGGGCTGGGGGCCCTGG	0.644													GGGGGG|GGGGG|GGGGGG|deletion	3286	0.65615	0.8752	0.5447	5008	,	,		15031	0.4514		0.6491	False		,,,				2504	0.6575					ENST00000606664.1																			0																																																			389690							g.chr8:142445062_142445063insG																													8.37:g.142445067_142445067dupG						MROH5_ENST00000430863.1_RNA								0	418_419	+									RNA	INS	ENST00000606664.1	37																																																																																						0.644	CTD-3064M3.7-001	KNOWN	non_canonical_TEC|basic	antisense	antisense	OTTHUMT00000470872.1			19	8						19	8	---	---	---	---
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	lincRNA	DEL	G	G	-	rs201713470	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:41962602delG	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373																																						ENST00000454645.1																			0																																																			654466							g.chr9:41962602delG																													9.37:g.41962602delG								NR_003670.1						0	902	-									RNA	DEL	ENST00000454645.1	37																																																																																						0.373	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			7	158						7	158	---	---	---	---
ZNF79	7633	broad.mit.edu	37	9	130206998	130207012	+	In_Frame_Del	DEL	AGGCCTTCAGTTACT	AGGCCTTCAGTTACT	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:130206998_130207012delAGGCCTTCAGTTACT	ENST00000342483.5	+	5	1425_1439	c.1019_1033delAGGCCTTCAGTTACT	c.(1018-1035)aaggccttcagttactgc>agc	p.340_345KAFSYC>S	ZNF79_ENST00000543471.1_In_Frame_Del_p.316_321KAFSYC>S|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	340				C -> G (in Ref. 4; CAA46339). {ECO:0000305}.	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)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAGTGTGGGAAGGCCTTCAGTTACTGCGCAGCGTT	0.577																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(1018-1035)agc>a		zinc finger protein 79																																				SO:0001651	inframe_deletion	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130206998_130207012delAGGCCTTCAGTTACT	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1019_1033delAGGCCTTCAGTTACT	9.37:g.130206998_130207012delAGGCCTTCAGTTACT	ENSP00000362446:p.Lys340_Cys345delinsSer					ZNF79_ENST00000543471.1_In_Frame_Del_p.KAFSYC316del	p.KAFSYC340del	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1425_1439	+			340					Q5VVW1|Q96NV1	In_Frame_Del	DEL	ENST00000342483.5	37	c.1019_1033delAGGCCTTCAGTTACT	CCDS6871.1																																																																																				0.577	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		40	113						40	113	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1031058	1031059	+	Splice_Site	INS	-	-	G	rs71464128	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr11:1031058_1031059insG	ENST00000421673.2	-	6	625		c.e6-2			NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAACTTGCCTGGGGTGCAGAA	0.703													GGGGG|GGGG|GGGGG|deletion	644	0.128594	0.348	0.0879	5008	,	,		7216	0.002		0.0895	False		,,,				2504	0.0317					ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.e6-2		mucin 6, oligomeric mucus/gel-forming				1070,2502		189,692,905						2.3	0.8		dbSNP_130	29	606,7194		45,516,3339	no	splice-3	MUC6	NM_005961.2		234,1208,4244	A1A1,A1R,RR		7.7692,29.9552,14.738				1676,9696				SO:0001630	splice_region_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1031058_1031059insG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.575-2->C	11.37:g.1031062_1031062dupG								NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	625	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)						O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Splice_Site	INS	ENST00000421673.2	37		CCDS44513.1																																																																																				0.703	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	Intron	7	8						7	8	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711145	6711147	+	In_Frame_Del	DEL	TCC	TCC	-	rs71584865|rs1639122	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr12:6711145_6711147delTCC	ENST00000357008.2	-	4	580_582	c.417_419delGGA	c.(415-420)gaggat>gat	p.E139del	CHD4_ENST00000544040.1_In_Frame_Del_p.E132del|CHD4_ENST00000544484.1_In_Frame_Del_p.E136del|CHD4_ENST00000309577.6_In_Frame_Del_p.E139del	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	139	Poly-Asp.		E -> D (in dbSNP:rs1639122). {ECO:0000269|PubMed:7575689}.		ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						ATCATCATCAtcctcctcctcct	0.453																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(415-420)gat>ga		chromodomain helicase DNA binding protein 4																																				SO:0001651	inframe_deletion	1108				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|zinc ion binding	g.chr12:6711145_6711147delTCC	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.417_419delGGA	12.37:g.6711154_6711156delTCC	ENSP00000349508:p.Glu139del					CHD4_ENST00000357008.2_In_Frame_Del_p.ED139del|CHD4_ENST00000544484.1_In_Frame_Del_p.ED136del|CHD4_ENST00000544040.1_In_Frame_Del_p.ED132del	p.ED139del			Q14839	CHD4_HUMAN			4	580_582	-			139		E -> D (in dbSNP:rs1639122).	Poly-Asp.		Q8IXZ5	In_Frame_Del	DEL	ENST00000357008.2	37	c.417_419delGGA	CCDS8552.1																																																																																				0.453	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		10	112						10	112	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs11428482|rs374779752|rs17857448		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	11	25						11	25	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr12:122812690_122812691insT	ENST00000540338.1	-	16	3093_3094	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.S593fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.S896fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.S972fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.S1007fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3019-3021)ccafs		CAP-GLY domain containing linker protein 1																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812690_122812691insT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3053dupA	12.37:g.122812692_122812692dupT	ENSP00000439093:p.Ser1018fs					CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs	p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3173_3174	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1018					A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.3019_3020insA	CCDS58285.1																																																																																				0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		27	483						27	483	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			646405							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			9	12						9	12	---	---	---	---
TSC22D1	8848	broad.mit.edu	37	13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-	rs112613609		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)cagcaa>caa	p.501_502QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.501_502QQ>Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	501	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1501-1506)caa>ca		TSC22 domain family, member 1																																				SO:0001651	inframe_deletion	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148706_45148708delTGC	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1503_1505delGCA	13.37:g.45148715_45148717delTGC	ENSP00000397435:p.Gln509del					TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1993_1995	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	507			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	c.1503_1505delGCA	CCDS31966.1																																																																																				0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		10	179						10	179	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000440815.3_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_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs			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_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|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		29	547						29	547	---	---	---	---
RP11-51O6.1	0	broad.mit.edu	37	16	61089302	61089302	+	RNA	DEL	C	C	-	rs567241949|rs56076856|rs371501468|rs61593494|rs201948984|rs78942570|rs572952892	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:61089302delC	ENST00000591758.1	-	0	566																											GCttcttcttctttttttttt	0.244																																						ENST00000591758.1																			0																																																			0							g.chr16:61089302delC																													16.37:g.61089302delC														0	566	-									RNA	DEL	ENST00000591758.1	37																																																																																						0.244	RP11-51O6.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000460612.1			9	82						9	82	---	---	---	---
MON1B	22879	broad.mit.edu	37	16	77228709	77228710	+	Frame_Shift_Ins	INS	-	-	G	rs374699775		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:77228709_77228710insG	ENST00000248248.3	+	4	1303_1304	c.953_954insG	c.(952-957)gcgggtfs	p.AG318fs	MON1B_ENST00000439557.2_Frame_Shift_Ins_p.AG209fs|MON1B_ENST00000545553.1_Frame_Shift_Ins_p.AG172fs|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	318										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCCTTTGCGGCGGGTGAGGCTT	0.634																																						ENST00000248248.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(952-954)gggfs		MON1 secretory trafficking family member B																																				SO:0001589	frameshift_variant	22879						protein binding	g.chr16:77228709_77228710insG	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.956dupG	16.37:g.77228712_77228712dupG	ENSP00000248248:p.Ala318fs					MON1B_ENST00000545553.1_Frame_Shift_Ins_p.G172fs|MON1B_ENST00000439557.2_Frame_Shift_Ins_p.G209fs|MON1B_ENST00000320859.6_Intron	p.G318fs	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN			4	1303_1304	+			318					B4DDZ0|O94949	Frame_Shift_Ins	INS	ENST00000248248.3	37	c.953_954insG	CCDS10925.1																																																																																				0.634	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		8	235						8	235	---	---	---	---
DUSP3	1845	broad.mit.edu	37	17	41852151	41852152	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr17:41852151_41852152delTG	ENST00000226004.3	-	2	343_344	c.280_281delCA	c.(280-282)cagfs	p.Q94fs	DUSP3_ENST00000397937.2_Frame_Shift_Del_p.Q53fs|DUSP3_ENST00000591618.1_5'Flank	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	94					in utero embryonic development (GO:0001701)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of JNK cascade (GO:0046329)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of mitotic cell cycle (GO:0045931)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		GTTGAACTCCTGTGTGTCGTTG	0.535																																					Esophageal Squamous(114;1511 1593 4801 6912 51717)	ENST00000226004.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7						c.(280-282)gfs		dual specificity phosphatase 3																																				SO:0001589	frameshift_variant	1845				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:41852151_41852152delTG	BC035701	CCDS11469.1	17q21	2011-06-09	2008-02-04			ENSG00000108861		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3069	protein-coding gene	gene with protein product		600183	"""vaccinia virus phosphatase VH1-related"""	VHR		7829094	Standard	NM_004090		Approved		uc002ied.4	P51452		ENST00000226004.3:c.280_281delCA	17.37:g.41852155_41852156delTG	ENSP00000226004:p.Gln94fs					DUSP3_ENST00000397937.2_Frame_Shift_Del_p.Q53fs	p.Q94fs	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.116)	2	343_344	-		Breast(137;0.00725)	94					D3DX45|Q5U0J1|Q8IYJ9	Frame_Shift_Del	DEL	ENST00000226004.3	37	c.280_281delCA	CCDS11469.1																																																																																				0.535	DUSP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453503.1	NM_004090		15	159						15	159	---	---	---	---
CTC-400I9.3	0	broad.mit.edu	37	19	31443058	31443059	+	lincRNA	INS	-	-	CTCC	rs144141390		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:31443058_31443059insCTCC	ENST00000587702.1	+	0	92																											tccctccctctctccctccctc	0.465																																						ENST00000587702.1																			0																																																			0							g.chr19:31443058_31443059insCTCC																													19.37:g.31443063_31443066dupCTCC														0	92	+									RNA	INS	ENST00000587702.1	37																																																																																						0.465	CTC-400I9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000460487.1			2	4						2	4	---	---	---	---
LRP3	4037	broad.mit.edu	37	19	33696466	33696467	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:33696466_33696467insC	ENST00000253193.7	+	5	992_993	c.790_791insC	c.(790-792)tccfs	p.S264fs	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	264	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CTTCTACGGCTCCTTTGCCTCC	0.723																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(790-792)cttfs		low density lipoprotein receptor-related protein 3				73,3711		3,67,1822						4.6	1.0			9	119,7515		6,107,3704	no	frameshift	LRP3	NM_002333.3		9,174,5526	A1A1,A1R,RR		1.5588,1.9292,1.6816				192,11226				SO:0001589	frameshift_variant	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33696466_33696467insC	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.792dupC	19.37:g.33696468_33696468dupC	ENSP00000253193:p.Ser264fs						p.L264fs	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			5	992_993	+	Esophageal squamous(110;0.137)		264			CUB 2.		B3KQD6|B4DKF2	Frame_Shift_Ins	INS	ENST00000253193.7	37	c.790_791insC	CCDS12430.1																																																																																				0.723	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			7	39						7	39	---	---	---	---
AF038458.3	0	broad.mit.edu	37	19	36448398	36448398	+	lincRNA	DEL	T	T	-	rs35742682|rs397768211	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:36448398delT	ENST00000592518.1	+	0	244																											ACCATAACCCttttttttttt	0.498													|||unknown(HR)	2421	0.483427	0.5061	0.5591	5008	,	,		20171	0.5506		0.4245	False		,,,				2504	0.3906					ENST00000592518.1																			0																																																			0							g.chr19:36448398delT																													19.37:g.36448398delT														0	244	+									RNA	DEL	ENST00000592518.1	37																																																																																						0.498	AF038458.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000457405.1			2	4						2	4	---	---	---	---
ZNF628	89887	broad.mit.edu	37	19	55993042	55993042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:55993042delC	ENST00000598519.1	+	3	1035	c.482delC	c.(481-483)tccfs	p.S162fs	ZNF628_ENST00000391718.2_Frame_Shift_Del_p.S158fs			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	162					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AAGAACTCGTCCAGCCTGCGG	0.662																																						ENST00000598519.1																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(481-483)tcfs		zinc finger protein 628							29.0	29.0	29.0					19																	55993042		2203	4298	6501	SO:0001589	frameshift_variant	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55993042delC	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.482delC	19.37:g.55993042delC	ENSP00000469591:p.Ser162fs					ZNF628_ENST00000391718.2_Frame_Shift_Del_p.S158fs	p.S162fs	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	1035	+	Breast(117;0.155)		158					Q86X34	Frame_Shift_Del	DEL	ENST00000598519.1	37	c.482delC	CCDS33116.3																																																																																				0.662	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		19	34						19	34	---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr20:56099187delT	ENST00000608263.1	-	1	736	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_ENST00000608440.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608158.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608425.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.K25fs	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(73-75)aafs		CCCTC-binding factor (zinc finger protein)-like							231.0	258.0	249.0					20																	56099187		2203	4300	6503	SO:0001589	frameshift_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099187delT		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.75delA	20.37:g.56099187delT	ENSP00000476783:p.Lys25fs					CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron	p.K25fs			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	736	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		25					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Del	DEL	ENST00000608263.1	37	c.75delA	CCDS13459.1																																																																																				0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		10	1082						10	1082	---	---	---	---
