#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-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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	5	81	0	0	0	1	0	5	81				
CRCP	27297	broad.mit.edu	37	7	65579857	65579857	+	5'UTR	SNP	C	C	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:65579857C>G	ENST00000395326.3	+	0	266				CRCP_ENST00000338592.5_5'UTR|CRCP_ENST00000431089.2_Missense_Mutation_p.S14R|CRCP_ENST00000398684.2_5'UTR|AC068533.7_ENST00000450043.1_Intron	NM_014478.4	NP_055293.1	O75575	RPC9_HUMAN	CGRP receptor component						defense response to virus (GO:0051607)|innate immune response (GO:0045087)|neuropeptide signaling pathway (GO:0007218)|transcription from RNA polymerase III promoter (GO:0006383)	acrosomal vesicle (GO:0001669)|DNA polymerase III complex (GO:0009360)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcitonin gene-related polypeptide receptor activity (GO:0001635)|DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)			cervix(1)|kidney(1)|lung(4)	6						GCGCGCGGAGCTGGCACCTTG	0.682																																						ENST00000431089.2																			0				cervix(1)|kidney(1)|lung(4)	6						c.(40-42)agC>agG		CGRP receptor component							47.0	46.0	46.0					7																	65579857		692	1591	2283	SO:0001623	5_prime_UTR_variant	27297				acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding	g.chr7:65579857C>G	AF073792	CCDS5532.1, CCDS47599.1, CCDS47600.1, CCDS55116.1	7q11.1	2009-01-14			ENSG00000241258	ENSG00000241258			17888	protein-coding gene	gene with protein product	"""calcitonin gene-related peptide-receptor component protein"""	606121				8622957, 10067875, 12482973	Standard	NM_014478		Approved	CGRP-RCP, RCP, RCP9	uc011kdw.2	O75575	OTTHUMG00000129519	ENST00000395326.3:c.-93C>G	7.37:g.65579857C>G						CRCP_ENST00000398684.2_5'UTR|CRCP_ENST00000395326.3_5'UTR|CRCP_ENST00000338592.5_5'UTR|AC068533.7_ENST00000450043.1_Intron	p.S14R	NM_001142414.1	NP_001135886.1	O75575	RPC9_HUMAN			1	45	+			0					A8MUZ4|A8MW23|B2R4H4|B4E198|Q3KRA3|Q5HYF1|Q8IXL4	Missense_Mutation	SNP	ENST00000395326.3	37	c.42C>G	CCDS5532.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946534	0.34377	.	.	ENSG00000241258	ENST00000431089	.	.	.	2.84	-1.79	0.07932	.	.	.	.	.	T	0.16896	0.0406	.	.	.	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.22556	-1.0213	7	0.25106	T	0.35	.	1.4051	0.02279	0.3716:0.3236:0.1828:0.122	.	14	B4E198	.	R	14	.	ENSP00000388653:S14R	S	+	3	2	CRCP	65217292	0.000000	0.05858	0.000000	0.03702	0.445000	0.32107	-0.828000	0.04419	-0.418000	0.07450	0.393000	0.25936	AGC		0.682	CRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251697.2	NM_014478		38	42	0	0	0	1	0	38	42				
MUC16	94025	broad.mit.edu	37	19	9085464	9085464	+	Silent	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:9085464G>A	ENST00000397910.4	-	1	6554	c.6351C>T	c.(6349-6351)gcC>gcT	p.A2117A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2117	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						AAGTACTCGCGGCTGTATTCT	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6349-6351)gcC>gcT		mucin 16, cell surface associated							133.0	129.0	130.0					19																	9085464		1923	4128	6051	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085464G>A	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.6351C>T	19.37:g.9085464G>A							p.A2117A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	6554	-			2117			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.6351C>T	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	774	0	0	0	1	0	6	774				
SAMD4B	55095	broad.mit.edu	37	19	39868378	39868378	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:39868378C>T	ENST00000314471.6	+	10	2393	c.1358C>T	c.(1357-1359)cCa>cTa	p.P453L	SAMD4B_ENST00000598913.1_Missense_Mutation_p.P453L|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCACCAGCTCCAGCTCCCACT	0.657																																						ENST00000314471.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15						c.(1357-1359)cCa>cTa		sterile alpha motif domain containing 4B							44.0	45.0	45.0					19																	39868378		2203	4300	6503	SO:0001583	missense	55095						protein binding	g.chr19:39868378C>T		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1358C>T	19.37:g.39868378C>T	ENSP00000317224:p.Pro453Leu					SAMD4B_ENST00000598913.1_Missense_Mutation_p.P453L|SAMD4B_ENST00000596368.1_Intron	p.P453L	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		10	2393	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		453					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.1358C>T	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	C	8.748	0.920575	0.17982	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	4.72	4.72	0.59763	.	0.532223	0.19871	N	0.104196	T	0.39886	0.1095	L	0.29908	0.895	0.49389	D	0.999789	B;B	0.26002	0.139;0.139	B;B	0.19666	0.026;0.026	T	0.18429	-1.0337	9	0.10111	T	0.7	.	10.2994	0.43644	0.1966:0.8034:0.0:0.0	.	453;453	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	L	453	.	ENSP00000317224:P453L	P	+	2	0	SAMD4B	44560218	0.027000	0.19231	0.950000	0.38849	0.272000	0.26649	0.630000	0.24553	2.449000	0.82847	0.467000	0.42956	CCA		0.657	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		89	176	0	0	0	1	0	89	176				
SETD5	55209	broad.mit.edu	37	3	9517301	9517301	+	Silent	SNP	C	C	T	rs369121817		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:9517301C>T	ENST00000406341.1	+	22	4045	c.3855C>T	c.(3853-3855)ccC>ccT	p.P1285P	SETD5_ENST00000402198.1_Silent_p.P1285P|SETD5_ENST00000402466.1_Silent_p.P1187P|SETD5_ENST00000407969.1_Silent_p.P1304P|SETD5_ENST00000302463.6_Silent_p.P1187P			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1285	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)		GAAACCCCCCCTCTCACGGTT	0.557																																						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.(3559-3561)ccC>ccT		SET domain containing 5							79.0	73.0	75.0					3																	9517301		1867	4102	5969	SO:0001819	synonymous_variant	55209							g.chr3:9517301C>T	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.3855C>T	3.37:g.9517301C>T						SETD5_ENST00000406341.1_Silent_p.P1285P|SETD5_ENST00000402198.1_Silent_p.P1285P|SETD5_ENST00000407969.1_Silent_p.P1304P|SETD5_ENST00000302463.6_Silent_p.P1187P	p.P1187P			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	24	4329	+	Medulloblastoma(99;0.227)		1285			Ser-rich.		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	37	c.3561C>T	CCDS46741.1																																																																																				0.557	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		4	447	0	0	0	1	0	4	447				
UGT2A1	10941	broad.mit.edu	37	4	70505335	70505335	+	Intron	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:70505335G>A	ENST00000503640.1	-	1	771				UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000514019.1_Intron|UGT2A2_ENST00000457664.2_Silent_p.T8T|UGT2A1_ENST00000286604.4_Intron	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus						cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTTAGGCATGGTAAAATCCC	0.323																																						ENST00000457664.2																			0											c.(22-24)acC>acT									54.0	53.0	53.0					4																	70505335		1827	4071	5898	SO:0001627	intron_variant	574537							g.chr4:70505335G>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.715+7312C>T	4.37:g.70505335G>A						UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000514019.1_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000286604.4_Intron	p.T8T	NM_001105677.2	NP_001099147.2					1	23	-								B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Silent	SNP	ENST00000503640.1	37	c.24C>T	CCDS3529.1																																																																																				0.323	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		5	163	0	0	0	1	0	5	163				
GPR112	139378	broad.mit.edu	37	X	135426760	135426760	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chrX:135426760G>A	ENST00000394143.1	+	6	1186	c.895G>A	c.(895-897)Gca>Aca	p.A299T	GPR112_ENST00000412101.1_Missense_Mutation_p.A94T|GPR112_ENST00000287534.4_Missense_Mutation_p.A236T|GPR112_ENST00000394141.1_Missense_Mutation_p.A94T|GPR112_ENST00000370652.1_Missense_Mutation_p.A299T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	299					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AACAATGACTGCACAAAAAAT	0.383																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(895-897)Gca>Aca		G protein-coupled receptor 112							146.0	124.0	132.0					X																	135426760		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135426760G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.895G>A	X.37:g.135426760G>A	ENSP00000377699:p.Ala299Thr					GPR112_ENST00000412101.1_Missense_Mutation_p.A94T|GPR112_ENST00000394141.1_Missense_Mutation_p.A94T|GPR112_ENST00000370652.1_Missense_Mutation_p.A299T|GPR112_ENST00000287534.4_Missense_Mutation_p.A236T	p.A299T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	1186	+	Acute lymphoblastic leukemia(192;0.000127)		299					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.895G>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	0.344	-0.948747	0.02304	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.39406	1.08;1.08;1.17;1.17;1.17	4.27	-1.6	0.08426	.	.	.	.	.	T	0.23330	0.0564	N	0.17082	0.46	0.09310	N	1	P;B;B	0.41041	0.736;0.22;0.141	B;B;B	0.43701	0.428;0.148;0.071	T	0.11251	-1.0595	9	0.30854	T	0.27	.	1.0489	0.01575	0.2212:0.3277:0.2829:0.1682	.	236;94;299	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	T	299;299;94;236;94	ENSP00000377699:A299T;ENSP00000359686:A299T;ENSP00000416526:A94T;ENSP00000287534:A236T;ENSP00000377697:A94T	ENSP00000287534:A236T	A	+	1	0	GPR112	135254426	0.002000	0.14202	0.013000	0.15412	0.169000	0.22640	-0.418000	0.07080	-0.243000	0.09653	0.502000	0.49764	GCA		0.383	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			5	698	0	0	0	1	0	5	698				
ATP10D	57205	broad.mit.edu	37	4	47583996	47583996	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:47583996C>T	ENST00000273859.3	+	21	3937	c.3668C>T	c.(3667-3669)aCt>aTt	p.T1223I	ATP10D_ENST00000512393.1_3'UTR	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1223					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						GGCTCAGATACTGACATCTTT	0.458																																						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.(3667-3669)aCt>aTt		ATPase, class V, type 10D							227.0	202.0	211.0					4																	47583996		2203	4300	6503	SO:0001583	missense	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.chr4:47583996C>T	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.3668C>T	4.37:g.47583996C>T	ENSP00000273859:p.Thr1223Ile					ATP10D_ENST00000512393.1_3'UTR	p.T1223I	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			21	3937	+			1223					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.3668C>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	T	0.553	-0.848709	0.02651	.	.	ENSG00000145246	ENST00000273859	T	0.37915	1.17	5.01	5.01	0.66863	.	0.214694	0.42053	N	0.000775	T	0.10035	0.0246	N	0.00661	-1.28	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21552	-1.0242	10	0.02654	T	1	-4.7338	10.1588	0.42838	0.0:0.078:0.0:0.922	.	1223	Q9P241	AT10D_HUMAN	I	1223	ENSP00000273859:T1223I	ENSP00000273859:T1223I	T	+	2	0	ATP10D	47278753	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	5.761000	0.68801	0.947000	0.37659	-0.332000	0.08345	ACT		0.458	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		60	742	0	0	0	1	0	60	742				
FCN2	2220	broad.mit.edu	37	9	137779023	137779023	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:137779023T>C	ENST00000291744.6	+	8	714	c.704T>C	c.(703-705)cTg>cCg	p.L235P	FCN2_ENST00000350339.2_Missense_Mutation_p.L197P	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	235	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GGAGATTCCCTGACGTTCCAC	0.473																																						ENST00000350339.2																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20						c.(589-591)cTg>cCg		ficolin (collagen/fibrinogen domain containing lectin) 2							158.0	139.0	146.0					9																	137779023		2203	4300	6503	SO:0001583	missense	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137779023T>C	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.704T>C	9.37:g.137779023T>C	ENSP00000291744:p.Leu235Pro					FCN2_ENST00000291744.6_Missense_Mutation_p.L235P	p.L197P	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	7	604	+		Myeloproliferative disorder(178;0.0333)	235			Fibrinogen C-terminal.		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	37	c.590T>C	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.305916	0.60305	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.79454	-1.27;-1.27	4.05	4.05	0.47172	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.33309	N	0.005045	D	0.92899	0.7741	H	0.99770	4.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.94178	0.7429	10	0.87932	D	0	.	10.9485	0.47315	0.0:0.0:0.0:1.0	.	197;235	Q15485-2;Q15485	.;FCN2_HUMAN	P	197;235	ENSP00000291741:L197P;ENSP00000291744:L235P	ENSP00000291744:L235P	L	+	2	0	FCN2	136918844	0.548000	0.26473	0.066000	0.19879	0.067000	0.16453	3.806000	0.55583	1.461000	0.47929	0.460000	0.39030	CTG		0.473	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		4	226	0	0	0	1	0	4	226				
FAM192A	80011	broad.mit.edu	37	16	57207783	57207783	+	Splice_Site	SNP	T	T	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:57207783T>A	ENST00000309137.8	-	2	244		c.e2-2		FAM192A_ENST00000389447.5_5'UTR|FAM192A_ENST00000564108.1_Splice_Site|FAM192A_ENST00000567439.1_Splice_Site|FAM192A_ENST00000569266.1_Splice_Site|FAM192A_ENST00000566077.1_Intron	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A							nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						ACAACCAATCTACaaaacaaa	0.368																																						ENST00000309137.8																			0				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						c.e2-2		family with sequence similarity 192, member A							110.0	97.0	101.0					16																	57207783		1833	4089	5922	SO:0001630	splice_region_variant	80011					nucleus		g.chr16:57207783T>A		CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"""NEFA interacting nuclear protein NIP30"""		"""chromosome 16 open reading frame 94"""	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.15-2A>T	16.37:g.57207783T>A						FAM192A_ENST00000389447.5_5'UTR|FAM192A_ENST00000567439.1_Splice_Site|FAM192A_ENST00000569266.1_Splice_Site|FAM192A_ENST00000564108.1_Splice_Site|FAM192A_ENST00000566077.1_Intron		NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN			2	244	-									Splice_Site	SNP	ENST00000309137.8	37		CCDS42168.1																																																																																				0.368	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	NM_024946	Intron	6	369	0	0	0	1	0	6	369				
ZFYVE9	9372	broad.mit.edu	37	1	52704333	52704333	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:52704333T>A	ENST00000371591.1	+	3	1375	c.1244T>A	c.(1243-1245)gTa>gAa	p.V415E	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.V415E|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.V415E	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	415					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GATAGCCAAGTAAACGAAGAA	0.398																																						ENST00000287727.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(1243-1245)gTa>gAa		zinc finger, FYVE domain containing 9							89.0	86.0	87.0					1																	52704333		2203	4299	6502	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52704333T>A	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1244T>A	1.37:g.52704333T>A	ENSP00000360647:p.Val415Glu					ZFYVE9_ENST00000361625.1_Missense_Mutation_p.V415E|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.V415E|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.V415E	p.V415E	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN			4	1416	+			415					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.1244T>A	CCDS563.1	.	.	.	.	.	.	.	.	.	.	T	11.02	1.517424	0.27123	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.54071	1.09;0.59;1.08;1.08	5.06	-0.274	0.12910	.	0.740749	0.11737	N	0.534413	T	0.26991	0.0661	N	0.08118	0	0.24433	N	0.994565	B;B;B	0.26258	0.145;0.09;0.087	B;B;B	0.30855	0.099;0.018;0.121	T	0.29427	-1.0012	10	0.15066	T	0.55	.	5.5919	0.17305	0.0:0.1613:0.5993:0.2393	.	415;415;415	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	E	415	ENSP00000349737:V415E;ENSP00000355358:V415E;ENSP00000287727:V415E;ENSP00000360647:V415E	ENSP00000287727:V415E	V	+	2	0	ZFYVE9	52476921	0.966000	0.33281	0.998000	0.56505	0.973000	0.67179	0.637000	0.24659	0.040000	0.15660	0.533000	0.62120	GTA		0.398	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		5	215	0	0	0	1	0	5	215				
IQCE	23288	broad.mit.edu	37	7	2646841	2646841	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:2646841C>T	ENST00000402050.2	+	21	2133	c.1949C>T	c.(1948-1950)cCc>cTc	p.P650L	IQCE_ENST00000438376.2_Missense_Mutation_p.P634L|IQCE_ENST00000325979.7_Missense_Mutation_p.P585L|IQCE_ENST00000404984.1_Missense_Mutation_p.P599L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	650						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		TCCTCCCCACCCTTCCTCGCA	0.552																																						ENST00000402050.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1948-1950)cCc>cTc		IQ motif containing E							74.0	82.0	80.0					7																	2646841		1949	4135	6084	SO:0001583	missense	23288							g.chr7:2646841C>T	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1949C>T	7.37:g.2646841C>T	ENSP00000385597:p.Pro650Leu					IQCE_ENST00000438376.2_Missense_Mutation_p.P634L|IQCE_ENST00000404984.1_Missense_Mutation_p.P599L|IQCE_ENST00000325979.7_Missense_Mutation_p.P585L	p.P650L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	21	2133	+		Ovarian(82;0.0112)	650					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	37	c.1949C>T	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343620	0.61073	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000438376;ENST00000325979;ENST00000423196	T;T;T;T;T	0.27720	2.45;2.41;2.44;2.44;1.65	4.85	2.97	0.34412	.	0.321092	0.24417	N	0.038711	T	0.24160	0.0585	L	0.59436	1.845	0.09310	N	1	B;B;B;B;B	0.27882	0.121;0.121;0.121;0.121;0.192	B;B;B;B;B	0.27262	0.036;0.036;0.036;0.036;0.078	T	0.17561	-1.0365	10	0.11485	T	0.65	-16.3441	7.2223	0.25994	0.0:0.7254:0.1762:0.0984	.	585;634;650;650;634	B4DXN1;B4DDX4;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;IQCE_HUMAN;.;.	L	650;599;634;585;230	ENSP00000385597:P650L;ENSP00000385945:P599L;ENSP00000396178:P634L;ENSP00000313772:P585L;ENSP00000405982:P230L	ENSP00000313772:P585L	P	+	2	0	IQCE	2613367	0.001000	0.12720	0.003000	0.11579	0.458000	0.32498	1.211000	0.32382	1.147000	0.42369	0.655000	0.94253	CCC		0.552	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		3	68	0	0	0	1	0	3	68				
ANAPC4	29945	broad.mit.edu	37	4	25419775	25419775	+	Splice_Site	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:25419775A>T	ENST00000315368.3	+	29	2341		c.e29-1		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)				TTTCTTTTTTAGTTAAGCTCA	0.328																																						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.e29-1		anaphase promoting complex subunit 4							130.0	141.0	138.0					4																	25419775		2202	4299	6501	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.chr4:25419775A>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.2200-1A>T	4.37:g.25419775A>T						ANAPC4_ENST00000510092.1_Splice_Site		NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			29	2341	+		Breast(46;0.0503)						A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Splice_Site	SNP	ENST00000315368.3	37		CCDS3434.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.023355	0.75390	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4325	0.67259	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANAPC4	25028873	1.000000	0.71417	0.927000	0.36925	0.959000	0.62525	7.431000	0.80335	2.191000	0.70037	0.523000	0.50628	.		0.328	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367	Intron	10	318	0	0	0	1	0	10	318				
GNPTAB	79158	broad.mit.edu	37	12	102158980	102158980	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:102158980G>C	ENST00000299314.7	-	13	1977	c.1715C>G	c.(1714-1716)gCc>gGc	p.A572G	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	572					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TCCTCTTTTGGCTACTTCTGC	0.398																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1714-1716)gCc>gGc		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							185.0	173.0	177.0					12																	102158980		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158980G>C	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1715C>G	12.37:g.102158980G>C	ENSP00000299314:p.Ala572Gly						p.A572G	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			13	1977	-			572					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.1715C>G	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248999	0.80024	.	.	ENSG00000111670	ENST00000299314	D	0.96685	-4.09	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.93334	0.7875	L	0.34521	1.04	0.80722	D	1	P	0.36144	0.539	B	0.34722	0.188	D	0.91372	0.5120	10	0.18710	T	0.47	-20.6029	20.422	0.99049	0.0:0.0:1.0:0.0	.	572	Q3T906	GNPTA_HUMAN	G	572	ENSP00000299314:A572G	ENSP00000299314:A572G	A	-	2	0	GNPTAB	100683111	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.230000	0.95299	2.832000	0.97577	0.655000	0.94253	GCC		0.398	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			7	375	0	0	0	1	0	7	375				
PRKAA2	5563	broad.mit.edu	37	1	57140052	57140052	+	Splice_Site	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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	4	116	0	0	0	1	0	4	116				
SLC25A44	9673	broad.mit.edu	37	1	156170179	156170179	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:156170179G>A	ENST00000359511.4	+	2	713	c.541G>A	c.(541-543)Ggc>Agc	p.G181S	SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.G158S	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	181					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					TGGACTTCGCGGCTTCTATCG	0.557																																						ENST00000359511.4																			0				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(541-543)Ggc>Agc		solute carrier family 25, member 44							119.0	102.0	108.0					1																	156170179		2203	4300	6503	SO:0001583	missense	9673				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr1:156170179G>A	AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.541G>A	1.37:g.156170179G>A	ENSP00000352497:p.Gly181Ser					SLC25A44_ENST00000423538.2_Missense_Mutation_p.G158S|SLC25A44_ENST00000469537.1_3'UTR	p.G181S	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN			2	713	+	Hepatocellular(266;0.158)		181					O75034	Missense_Mutation	SNP	ENST00000359511.4	37	c.541G>A	CCDS1133.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666621	0.67814	.	.	ENSG00000160785	ENST00000359511;ENST00000423538	D;D	0.82255	-1.59;-1.59	5.55	5.55	0.83447	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.91136	0.7209	M	0.86651	2.83	0.80722	D	1	D;D;D	0.71674	0.977;0.989;0.998	P;D;D	0.70016	0.696;0.923;0.967	D	0.91648	0.5332	10	0.72032	D	0.01	0.2378	17.0553	0.86532	0.0:0.0:1.0:0.0	.	158;158;181	E9PGQ0;B4DGC4;Q96H78	.;.;S2544_HUMAN	S	181;158	ENSP00000352497:G181S;ENSP00000407560:G158S	ENSP00000352497:G181S	G	+	1	0	SLC25A44	154436803	1.000000	0.71417	0.968000	0.41197	0.823000	0.46562	9.303000	0.96183	2.894000	0.99253	0.591000	0.81541	GGC		0.557	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	NM_014655		4	267	0	0	0	1	0	4	267				
ZNF443	10224	broad.mit.edu	37	19	12542199	12542199	+	Missense_Mutation	SNP	G	G	A	rs569249959	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:12542199G>A	ENST00000301547.5	-	4	984	c.787C>T	c.(787-789)Cct>Tct	p.P263S	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	263					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CTGTAAAAAGGAAAGGCTTTA	0.373													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		22557	0.0		0.0	False		,,,				2504	0.0					ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(787-789)Cct>Tct		zinc finger protein 443							162.0	167.0	165.0					19																	12542199		2203	4299	6502	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542199G>A	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.787C>T	19.37:g.12542199G>A	ENSP00000301547:p.Pro263Ser					CTD-3105H18.16_ENST00000595562.1_Intron	p.P263S	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	984	-			263						Missense_Mutation	SNP	ENST00000301547.5	37	c.787C>T	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-4.101678	0.00002	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.06933	3.24	1.1	-2.2	0.06994	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01592	0.0051	N	0.00746	-1.225	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25916	-1.0118	9	0.02654	T	1	.	0.7093	0.00922	0.2816:0.2534:0.2949:0.1701	.	263	Q9Y2A4	ZN443_HUMAN	S	263	ENSP00000301547:P263S	ENSP00000301547:P263S	P	-	1	0	ZNF443	12403199	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-2.168000	0.01270	-4.048000	0.00078	-2.542000	0.00179	CCT		0.373	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		5	880	0	0	0	1	0	5	880				
DHX57	90957	broad.mit.edu	37	2	39090649	39090649	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:39090649A>T	ENST00000295373.6	-	3	363	c.237T>A	c.(235-237)agT>agA	p.S79R	DHX57_ENST00000479345.2_5'UTR|AC018693.6_ENST00000442829.1_RNA	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	79							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TGCTTATGTTACTGTTGCTAG	0.403																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(235-237)agT>agA		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							199.0	189.0	192.0					2																	39090649		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39090649A>T	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.237T>A	2.37:g.39090649A>T	ENSP00000295373:p.Ser79Arg					DHX57_ENST00000479345.2_5'UTR	p.S79R	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			3	363	-		all_hematologic(82;0.248)	79					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.237T>A	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	A	9.089	1.001132	0.19121	.	.	ENSG00000163214	ENST00000295373	T	0.02837	4.14	5.38	4.22	0.49857	.	0.324083	0.26844	N	0.022219	T	0.01905	0.0060	N	0.14661	0.345	0.24988	N	0.991551	P;B	0.36837	0.571;0.257	B;B	0.33254	0.16;0.049	T	0.50659	-0.8802	10	0.22109	T	0.4	.	9.8413	0.40999	0.9219:0.0:0.0781:0.0	.	79;79	Q6P158-2;Q6P158	.;DHX57_HUMAN	R	79	ENSP00000295373:S79R	ENSP00000295373:S79R	S	-	3	2	DHX57	38944153	0.059000	0.20769	0.954000	0.39281	0.172000	0.22775	1.372000	0.34261	0.982000	0.38575	0.459000	0.35465	AGT		0.403	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		5	305	0	0	0	1	0	5	305				
ITIH4	3700	broad.mit.edu	37	3	52850939	52850939	+	Missense_Mutation	SNP	G	G	A	rs535415256		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:52850939G>A	ENST00000266041.4	-	21	2528	c.2432C>T	c.(2431-2433)gCg>gTg	p.A811V	ITIH4_ENST00000346281.5_Missense_Mutation_p.A795V|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Missense_Mutation_p.A781V|ITIH4_ENST00000485816.1_Missense_Mutation_p.A816V	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	811					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCACTTGTACGCAGAGCTTCT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20472	0.0		0.0	False		,,,				2504	0.001					ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(2431-2433)gCg>gTg		inter-alpha-trypsin inhibitor heavy chain family, member 4							174.0	176.0	176.0					3																	52850939		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52850939G>A	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2432C>T	3.37:g.52850939G>A	ENSP00000266041:p.Ala811Val					ITIH4_ENST00000346281.5_Missense_Mutation_p.A795V|ITIH4_ENST00000485816.1_Missense_Mutation_p.A816V|ITIH4_ENST00000406595.1_Missense_Mutation_p.A781V	p.A811V	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	21	2528	-			811					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.2432C>T	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	G	0.038	-1.295048	0.01375	.	.	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	5.47	-3.73	0.04398	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	1.894920	0.02389	N	0.079523	T	0.14013	0.0339	L	0.57536	1.79	0.09310	N	1	P;P;P;B	0.36125	0.479;0.538;0.538;0.016	B;B;B;B	0.38803	0.16;0.224;0.282;0.01	T	0.29731	-1.0002	10	0.23891	T	0.37	-1.2486	10.4885	0.44737	0.0793:0.0:0.192:0.7286	.	781;816;811;795	E9PGN5;B7ZKJ8;Q14624;Q14624-2	.;.;ITIH4_HUMAN;.	V	811;795;816;781;769	ENSP00000266041:A811V;ENSP00000340520:A795V;ENSP00000417824:A816V;ENSP00000384425:A781V	ENSP00000266041:A811V	A	-	2	0	ITIH4	52825979	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.605000	0.05661	-1.254000	0.02485	-1.177000	0.01723	GCG		0.577	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		3	140	0	0	0	1	0	3	140				
GPR21	2844	broad.mit.edu	37	9	125797055	125797055	+	Silent	SNP	T	T	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:125797055T>C	ENST00000373642.1	+	1	250	c.210T>C	c.(208-210)acT>acC	p.T70T	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	70					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.T70T(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						TTATCCAGACTATGGCATATG	0.423																																						ENST00000373642.1																			1	Substitution - coding silent(1)	p.T70T(1)	endometrium(1)	endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						c.(208-210)acT>acC		G protein-coupled receptor 21							166.0	144.0	151.0					9																	125797055		2203	4300	6503	SO:0001819	synonymous_variant	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797055T>C	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.210T>C	9.37:g.125797055T>C						RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron	p.T70T	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN			1	250	+			70					B2R8W9|Q6NXU2	Silent	SNP	ENST00000373642.1	37	c.210T>C	CCDS6849.1																																																																																				0.423	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		3	115	0	0	0	1	0	3	115				
PCDHGB6	56100	broad.mit.edu	37	5	140789895	140789895	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:140789895T>A	ENST00000520790.1	+	1	2126	c.2126T>A	c.(2125-2127)cTg>cAg	p.L709Q	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	709					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGTGATTCTGGCCATTGCC	0.587																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(2125-2127)cTg>cAg									150.0	157.0	154.0					5																	140789895		2091	4222	6313	SO:0001583	missense	56100							g.chr5:140789895T>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.2126T>A	5.37:g.140789895T>A	ENSP00000428603:p.Leu709Gln					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.L709Q	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2126	+								Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.2126T>A	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	t	16.09	3.025034	0.54683	.	.	ENSG00000253305	ENST00000520790	T	0.27256	1.68	5.18	5.18	0.71444	.	.	.	.	.	T	0.59810	0.2221	H	0.94847	3.59	0.09310	N	1	P;D	0.76494	0.85;0.999	P;D	0.75020	0.507;0.985	T	0.60419	-0.7267	9	0.87932	D	0	.	9.757	0.40508	0.0:0.0805:0.0:0.9195	.	709;709	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	Q	709	ENSP00000428603:L709Q	ENSP00000428603:L709Q	L	+	2	0	PCDHGB6	140770079	0.023000	0.18921	0.992000	0.48379	0.600000	0.36913	2.213000	0.42844	1.956000	0.56807	0.460000	0.39030	CTG		0.587	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		37	69	0	0	0	1	0	37	69				
FMN1	342184	broad.mit.edu	37	15	33261380	33261380	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:33261380A>T	ENST00000559047.1	-	5	2521	c.2522T>A	c.(2521-2523)cTc>cAc	p.L841H	FMN1_ENST00000334528.9_Missense_Mutation_p.L618H|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Missense_Mutation_p.L743H			Q68DA7	FMN1_HUMAN	formin 1	841	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGGGGGTGAGAGCTGGCTTAA	0.498																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(1852-1854)cTc>cAc		formin 1							177.0	168.0	171.0					15																	33261380		2017	4183	6200	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261380A>T	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2522T>A	15.37:g.33261380A>T	ENSP00000454047:p.Leu841His					FMN1_ENST00000559047.1_Missense_Mutation_p.L841H|FMN1_ENST00000561249.1_Missense_Mutation_p.L743H	p.L618H	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	1852	-		all_lung(180;1.14e-07)	841			Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.1853T>A		.	.	.	.	.	.	.	.	.	.	A	8.147	0.786500	0.16189	.	.	ENSG00000248905	ENST00000334528	T	0.39997	1.05	4.42	4.42	0.53409	.	0.474033	0.19106	N	0.122561	T	0.49677	0.1571	L	0.44542	1.39	.	.	.	D	0.71674	0.998	P	0.61592	0.891	T	0.62992	-0.6736	9	0.72032	D	0.01	.	8.5414	0.33395	0.9132:0.0:0.0868:0.0	.	618	Q68DA7-5	.	H	618	ENSP00000333950:L618H	ENSP00000333950:L618H	L	-	2	0	FMN1	31048672	0.897000	0.30589	0.555000	0.28281	0.175000	0.22909	3.579000	0.53900	1.858000	0.53909	0.454000	0.30748	CTC		0.498	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		11	408	0	0	0	1	0	11	408				
C1QC	714	broad.mit.edu	37	1	22974251	22974251	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:22974251C>G	ENST00000374639.3	+	3	831	c.713C>G	c.(712-714)tCc>tGc	p.S238C	C1QC_ENST00000374640.4_Missense_Mutation_p.S238C|C1QC_ENST00000374637.1_Missense_Mutation_p.S238C	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	238	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCGTCTTCTCCGGCTTCCTG	0.642																																					Ovarian(26;671 750 8290 29071 43278)	ENST00000374639.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15						c.(712-714)tCc>tGc		complement component 1, q subcomponent, C chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						82.0	83.0	83.0					1																	22974251		2203	4300	6503	SO:0001583	missense	714				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		g.chr1:22974251C>G	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.713C>G	1.37:g.22974251C>G	ENSP00000363770:p.Ser238Cys					C1QC_ENST00000374640.4_Missense_Mutation_p.S238C|C1QC_ENST00000374637.1_Missense_Mutation_p.S238C	p.S238C	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	3	831	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	238			C1q.		Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	ENST00000374639.3	37	c.713C>G	CCDS227.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552207	0.86127	.	.	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	T;T;T	0.79845	-1.31;-1.31;-1.31	4.79	4.79	0.61399	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.92443	0.7601	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94652	0.7840	10	0.87932	D	0	.	16.3983	0.83631	0.0:1.0:0.0:0.0	.	238	P02747	C1QC_HUMAN	C	238	ENSP00000363771:S238C;ENSP00000363770:S238C;ENSP00000363768:S238C	ENSP00000363768:S238C	S	+	2	0	C1QC	22846838	1.000000	0.71417	0.972000	0.41901	0.992000	0.81027	5.396000	0.66297	2.198000	0.70561	0.561000	0.74099	TCC		0.642	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		25	102	0	0	0	1	0	25	102				
ITGAM	3684	broad.mit.edu	37	16	31332563	31332563	+	Splice_Site	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:31332563G>A	ENST00000287497.8	+	15	1784	c.1709G>A	c.(1708-1710)cGg>cAg	p.R570Q	ITGAM_ENST00000544665.3_Splice_Site_p.R571Q			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	570					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.R570Q(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TACCCTCAGCGGATAGCAGGC	0.522																																						ENST00000544665.3																			1	Substitution - Missense(1)	p.R570Q(1)	endometrium(1)	endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.e15-1		integrin, alpha M (complement component 3 receptor 3 subunit)							156.0	158.0	157.0					16																	31332563		2012	4194	6206	SO:0001630	splice_region_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31332563G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1708-1G>A	16.37:g.31332563G>A						ITGAM_ENST00000287497.8_Splice_Site_p.R570_splice	p.R571_splice	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			15	1783	+			570					Q4VAK0|Q4VAK1|Q4VAK2	Splice_Site	SNP	ENST00000287497.8	37	c.1710_splice	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081934	0.94050	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.64260	-0.09;-0.09	5.19	5.19	0.71726	.	.	.	.	.	D	0.83723	0.5316	M	0.92077	3.27	0.39116	D	0.961571	D;D	0.89917	1.0;1.0	D;D	0.71656	0.974;0.974	D	0.88458	0.3053	9	0.87932	D	0	.	17.6276	0.88097	0.0:0.0:1.0:0.0	.	570;570	Q4VAK1;P11215	.;ITAM_HUMAN	Q	571;570	ENSP00000441691:R571Q;ENSP00000287497:R570Q	ENSP00000287497:R570Q	R	+	2	0	ITGAM	31240064	1.000000	0.71417	0.255000	0.24374	0.333000	0.28666	6.074000	0.71253	2.681000	0.91329	0.655000	0.94253	CGG		0.522	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	Missense_Mutation	5	550	0	0	0	1	0	5	550				
SIPA1L3	23094	broad.mit.edu	37	19	38692610	38692610	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:38692610C>T	ENST00000222345.6	+	20	5602	c.5093C>T	c.(5092-5094)cCg>cTg	p.P1698L	CTB-102L5.8_ENST00000598146.1_RNA|RN7SL663P_ENST00000578592.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1698					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGGGACCCCCGACCCCCAGG	0.647																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(5092-5094)cCg>cTg		signal-induced proliferation-associated 1 like 3							56.0	60.0	59.0					19																	38692610		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38692610C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.5093C>T	19.37:g.38692610C>T	ENSP00000222345:p.Pro1698Leu						p.P1698L	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		20	5602	+			1698					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.5093C>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	6.415	0.444639	0.12164	.	.	ENSG00000105738	ENST00000222345	T	0.28255	1.62	4.82	2.57	0.30868	.	0.830110	0.10805	N	0.632226	T	0.17534	0.0421	N	0.24115	0.695	0.30818	N	0.738114	B	0.29270	0.24	B	0.24701	0.055	T	0.25398	-1.0133	10	0.07813	T	0.8	-10.8889	9.6934	0.40143	0.393:0.607:0.0:0.0	.	1698	O60292	SI1L3_HUMAN	L	1698	ENSP00000222345:P1698L	ENSP00000222345:P1698L	P	+	2	0	SIPA1L3	43384450	0.594000	0.26849	0.977000	0.42913	0.951000	0.60555	1.461000	0.35255	0.373000	0.24621	0.561000	0.74099	CCG		0.647	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		45	53	0	0	0	1	0	45	53				
NPR2	4882	broad.mit.edu	37	9	35808752	35808752	+	Splice_Site	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:35808752G>A	ENST00000342694.2	+	20	3143	c.2888G>A	c.(2887-2889)gGg>gAg	p.G963E	SPAG8_ENST00000340291.2_Intron|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000479751.1_5'Flank	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	963	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTTCTCAAAGGGCCAGTCTGT	0.522																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.e20-1		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						117.0	110.0	113.0					9																	35808752		2203	4300	6503	SO:0001630	splice_region_variant	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35808752G>A	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2888-1G>A	9.37:g.35808752G>A						SPAG8_ENST00000340291.2_Intron	p.G963_splice	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		20	3143	+	all_epithelial(49;0.161)		963			Guanylate cyclase.		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Splice_Site	SNP	ENST00000342694.2	37	c.2887_splice	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386780	0.82902	.	.	ENSG00000159899	ENST00000342694	D	0.99089	-5.41	5.99	5.99	0.97316	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.43919	D	0.000510	D	0.99746	0.9899	H	0.99933	4.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96904	0.9662	10	0.87932	D	0	.	19.0558	0.93064	0.0:0.0:1.0:0.0	.	963;963	P20594-2;P20594	.;ANPRB_HUMAN	E	963	ENSP00000341083:G963E	ENSP00000341083:G963E	G	+	2	0	NPR2	35798752	1.000000	0.71417	0.958000	0.39756	0.902000	0.53008	9.813000	0.99286	2.840000	0.97914	0.655000	0.94253	GGG		0.522	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		Missense_Mutation	4	231	0	0	0	1	0	4	231				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	491	0	0	0	1	0	4	491				
C9orf9	11092	broad.mit.edu	37	9	135759453	135759453	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:135759453T>C	ENST00000372136.3	+	2	566	c.119T>C	c.(118-120)aTc>aCc	p.I40T	C9orf9_ENST00000350499.6_Missense_Mutation_p.I40T|C9orf9_ENST00000356311.5_Missense_Mutation_p.I40T			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	40						cytoplasmic microtubule (GO:0005881)		p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		CACGACAAGATCCGGCCCATC	0.627																																						ENST00000372136.3																			1	Unknown(1)	p.?(1)	bone(1)	cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(118-120)aTc>aCc		chromosome 9 open reading frame 9							77.0	73.0	74.0					9																	135759453		2203	4300	6503	SO:0001583	missense	11092							g.chr9:135759453T>C		CCDS6955.1	9q34.13	2012-03-06			ENSG00000165698	ENSG00000165698			1367	protein-coding gene	gene with protein product							Standard	NM_018956		Approved		uc004cby.1	Q96E40	OTTHUMG00000020847	ENST00000372136.3:c.119T>C	9.37:g.135759453T>C	ENSP00000361209:p.Ile40Thr					C9orf9_ENST00000356311.5_Missense_Mutation_p.I40T|C9orf9_ENST00000350499.6_Missense_Mutation_p.I40T	p.I40T			Q96E40	CI009_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)	2	566	+			40					Q9UGQ0	Missense_Mutation	SNP	ENST00000372136.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	T	15.94	2.981959	0.53827	.	.	ENSG00000165698	ENST00000372136;ENST00000356311;ENST00000350499	T;T;T	0.43688	0.94;0.94;0.94	5.46	5.46	0.80206	.	0.058804	0.64402	D	0.000003	T	0.51669	0.1688	L	0.39898	1.24	0.50467	D	0.999875	D;D	0.76494	0.996;0.999	D;D	0.83275	0.99;0.996	T	0.42085	-0.9472	10	0.08837	T	0.75	-42.1787	14.7297	0.69372	0.0:0.0:0.0:1.0	.	40;40	Q96E40-2;Q96E40	.;CI009_HUMAN	T	40	ENSP00000361209:I40T;ENSP00000348659:I40T;ENSP00000298546:I40T	ENSP00000298546:I40T	I	+	2	0	C9orf9	134749274	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.573000	0.53856	2.081000	0.62600	0.533000	0.62120	ATC		0.627	C9orf9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000054806.1	NM_018956		5	98	0	0	0	1	0	5	98				
KRTAP4-12	83755	broad.mit.edu	37	17	39280266	39280266	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr17:39280266G>A	ENST00000394014.1	-	1	153	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	37	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCTGGGGCGGCAGCAGGTG	0.672																																						ENST00000394014.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(109-111)Cgc>Tgc		keratin associated protein 4-12							32.0	48.0	43.0					17																	39280266		2164	4264	6428	SO:0001583	missense	83755					keratin filament		g.chr17:39280266G>A	AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"""Keratin associated proteins"""	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.109C>T	17.37:g.39280266G>A	ENSP00000377582:p.Arg37Cys						p.R37C	NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	153	-		Breast(137;0.000496)	37			31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		A3KMC5|Q495I0	Missense_Mutation	SNP	ENST00000394014.1	37	c.109C>T	CCDS32649.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|.	12.21|12.21	1.870197|1.870197	0.33069|0.33069	.|.	.|.	ENSG00000213416|ENSG00000213416	ENST00000455597|ENST00000394014	.|T	.|0.00603	.|6.28	4.97|4.97	-1.26|-1.26	0.09376|0.09376	.|.	.|1.503340	.|0.05841	.|U	.|0.619340	.|T	.|0.00845	.|0.0028	M|M	0.79475|0.79475	2.455|2.455	0.33535|0.33535	D|D	0.594152|0.594152	.|B	.|0.33477	.|0.413	.|B	.|0.30646	.|0.118	.|T	.|0.39014	.|-0.9634	.|10	.|0.52906	.|T	.|0.07	.|.	3.2134|3.2134	0.06690|0.06690	0.0882:0.3778:0.2699:0.2641|0.0882:0.3778:0.2699:0.2641	.|.	.|37	.|Q9BQ66	.|KR412_HUMAN	.|C	-1|37	.|ENSP00000377582:R37C	.|ENSP00000377582:R37C	.|R	-|-	.|1	.|0	KRTAP4-12|KRTAP4-12	36533792|36533792	0.000000|0.000000	0.05858|0.05858	0.998000|0.998000	0.56505|0.56505	0.401000|0.401000	0.30781|0.30781	-0.818000|-0.818000	0.04467|0.04467	0.180000|0.180000	0.19960|0.19960	-0.519000|-0.519000	0.04390|0.04390	.|CGC		0.672	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			5	62	0	0	0	1	0	5	62				
CTDSPL2	51496	broad.mit.edu	37	15	44751187	44751187	+	Splice_Site	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:44751187A>T	ENST00000260327.4	+	2	539		c.e2-1		CTDSPL2_ENST00000558966.1_Splice_Site|CTDSPL2_ENST00000396780.1_Splice_Site|CTDSPL2_ENST00000558373.1_5'Flank	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2								phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		tttCTCTTTTAGTTTTACATG	0.343																																						ENST00000260327.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13						c.e2-1		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2							35.0	38.0	37.0					15																	44751187		2195	4296	6491	SO:0001630	splice_region_variant	51496						phosphoprotein phosphatase activity	g.chr15:44751187A>T	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.-24-1A>T	15.37:g.44751187A>T						CTDSPL2_ENST00000558966.1_Splice_Site|CTDSPL2_ENST00000396780.1_Splice_Site		NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)	2	539	+		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)						Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Splice_Site	SNP	ENST00000260327.4	37		CCDS10110.1																																																																																				0.343	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396	Intron	5	92	0	0	0	1	0	5	92				
KIAA0754	643314	broad.mit.edu	37	1	39879325	39879325	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:39879325C>T	ENST00000530275.1	+	1	3175	c.2980C>T	c.(2980-2982)Ccc>Tcc	p.P994S	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	994	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCAGAGGAGCCCGCCTCCCC	0.706																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(2980-2982)Ccc>Tcc		KIAA0754																																				SO:0001583	missense	643314							g.chr1:39879325C>T			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2980C>T	1.37:g.39879325C>T	ENSP00000431179:p.Pro994Ser					MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron	p.P994S	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	3175	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	994			Ala-rich.		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.2980C>T		.	.	.	.	.	.	.	.	.	.	c	14.12	2.441741	0.43326	.	.	ENSG00000255103	ENST00000530275	T	0.24723	1.84	3.8	0.879	0.19155	.	.	.	.	.	T	0.24275	0.0588	N	0.14661	0.345	0.09310	N	1	P	0.46784	0.884	P	0.58873	0.847	T	0.13953	-1.0490	9	0.38643	T	0.18	.	5.3402	0.15979	0.1618:0.6519:0.0:0.1863	.	994	O94854	K0754_HUMAN	S	994	ENSP00000431179:P994S	ENSP00000431179:P994S	P	+	1	0	RP4-562N20.1	39651912	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.158000	0.10070	0.235000	0.21160	-0.381000	0.06696	CCC		0.706	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		3	4	0	0	0	1	0	3	4				
PVRL2	5819	broad.mit.edu	37	19	45375310	45375310	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:45375310C>T	ENST00000252483.5	+	3	679	c.679C>T	c.(679-681)Ccc>Tcc	p.P227S	PVRL2_ENST00000252485.4_Missense_Mutation_p.P227S	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	227	Ig-like C2-type 1.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CACCTTGGTGCCCTCGGGCCG	0.597																																						ENST00000252483.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(679-681)Ccc>Tcc		poliovirus receptor-related 2 (herpesvirus entry mediator B)							115.0	90.0	98.0					19																	45375310		2203	4300	6503	SO:0001583	missense	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45375310C>T	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.679C>T	19.37:g.45375310C>T	ENSP00000252483:p.Pro227Ser					PVRL2_ENST00000252485.4_Missense_Mutation_p.P227S	p.P227S	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	3	679	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	227			Ig-like C2-type 1.		A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	c.679C>T	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694637	0.48202	.	.	ENSG00000130202	ENST00000252483;ENST00000252485	T;T	0.79749	-1.3;-1.3	4.25	4.25	0.50352	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000078	D	0.87489	0.6190	M	0.70903	2.155	0.34971	D	0.753188	D;D	0.69078	0.997;0.996	D;D	0.72338	0.977;0.961	D	0.91478	0.5202	10	0.72032	D	0.01	.	12.0078	0.53270	0.0:1.0:0.0:0.0	.	227;227	Q92692;Q92692-2	PVRL2_HUMAN;.	S	227	ENSP00000252483:P227S;ENSP00000252485:P227S	ENSP00000252483:P227S	P	+	1	0	PVRL2	50067150	0.946000	0.32159	0.206000	0.23566	0.497000	0.33675	2.482000	0.45224	2.190000	0.69967	0.561000	0.74099	CCC		0.597	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		5	430	0	0	0	1	0	5	430				
PRPF40B	25766	broad.mit.edu	37	12	50025308	50025308	+	Missense_Mutation	SNP	C	C	T	rs149751647		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:50025308C>T	ENST00000380281.1	+	2	207	c.143C>T	c.(142-144)gCg>gTg	p.A48V	PRPF40B_ENST00000548825.2_Missense_Mutation_p.A70V|PRPF40B_ENST00000261897.1_Missense_Mutation_p.A42V			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	48	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCAATGGGGGCGCCACCACCA	0.612																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(124-126)gCg>gTg		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	64.0	68.0	67.0		143,125	4.5	1.0	12	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRPF40B	NM_001031698.1,NM_012272.1	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	48/872,42/859	50025308	1,13005	2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50025308C>T	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.143C>T	12.37:g.50025308C>T	ENSP00000369634:p.Ala48Val					PRPF40B_ENST00000380281.1_Missense_Mutation_p.A48V|PRPF40B_ENST00000548825.2_Missense_Mutation_p.A70V	p.A42V			Q6NWY9	PR40B_HUMAN			2	676	+			48			Pro-rich.		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.125C>T		.	.	.	.	.	.	.	.	.	.	C	12.03	1.814713	0.32053	0.0	1.16E-4	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	T;T;T	0.23754	1.92;1.9;1.89	5.41	4.47	0.54385	.	0.107089	0.39341	N	0.001388	T	0.13457	0.0326	N	0.22421	0.69	0.42471	D	0.992827	P;P;P	0.42871	0.688;0.792;0.792	B;B;B	0.31337	0.06;0.128;0.128	T	0.06162	-1.0842	9	.	.	.	-11.7007	11.7512	0.51849	0.0:0.6945:0.3055:0.0	.	48;42;48	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	V	70;42;48	ENSP00000448073:A70V;ENSP00000261897:A42V;ENSP00000369634:A48V	.	A	+	2	0	PRPF40B	48311575	0.999000	0.42202	0.994000	0.49952	0.993000	0.82548	3.523000	0.53488	2.699000	0.92147	0.655000	0.94253	GCG		0.612	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		19	172	0	0	0	1	0	19	172				
OR6C3	254786	broad.mit.edu	37	12	55725568	55725568	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:55725568A>T	ENST00000379667.1	+	1	84	c.84A>T	c.(82-84)ttA>ttT	p.L28F		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	28					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)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTCTCTTTTTATTTATCACGT	0.423																																						ENST00000379667.1																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(82-84)ttA>ttT		olfactory receptor, family 6, subfamily C, member 3							142.0	151.0	148.0					12																	55725568		2203	4300	6503	SO:0001583	missense	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55725568A>T	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.84A>T	12.37:g.55725568A>T	ENSP00000368989:p.Leu28Phe						p.L28F	NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN			1	84	+			28						Missense_Mutation	SNP	ENST00000379667.1	37	c.84A>T	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.702933	0.88924	.	.	ENSG00000205329	ENST00000379667	T	0.00012	9.3	4.82	-7.43	0.01383	.	0.000000	0.32328	N	0.006257	T	0.00073	0.0002	N	0.02420	-0.555	0.09310	N	1	D	0.57899	0.981	D	0.63793	0.918	T	0.59198	-0.7499	10	0.59425	D	0.04	.	1.9968	0.03458	0.1246:0.2875:0.305:0.2829	.	28	Q9NZP0	OR6C3_HUMAN	F	28	ENSP00000368989:L28F	ENSP00000368989:L28F	L	+	3	2	OR6C3	54011835	0.000000	0.05858	0.000000	0.03702	0.782000	0.44232	-3.716000	0.00385	-1.315000	0.02297	0.378000	0.23410	TTA		0.423	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			7	395	0	0	0	1	0	7	395				
PPP3CA	5530	broad.mit.edu	37	4	102015074	102015074	+	Splice_Site	SNP	T	T	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:102015074T>A	ENST00000394854.3	-	6	1326		c.e6-2		PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000523694.2_Splice_Site|PPP3CA_ENST00000510292.1_Splice_Site|PPP3CA_ENST00000323055.6_Splice_Site|PPP3CA_ENST00000507176.1_Splice_Site|PPP3CA_ENST00000394853.4_Splice_Site	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme						calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TCGGTCTAACTAAGAAAAATA	0.408																																						ENST00000394854.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20						c.e6-2		protein phosphatase 3, catalytic subunit, alpha isozyme							62.0	62.0	62.0					4																	102015074		2203	4300	6503	SO:0001630	splice_region_variant	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:102015074T>A		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.643-2A>T	4.37:g.102015074T>A						PPP3CA_ENST00000394853.4_Splice_Site|PPP3CA_ENST00000523694.2_Splice_Site|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000510292.1_Splice_Site|PPP3CA_ENST00000507176.1_Splice_Site|PPP3CA_ENST00000323055.6_Splice_Site		NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	6	1326	-								A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Splice_Site	SNP	ENST00000394854.3	37		CCDS34037.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407203	0.83230	.	.	ENSG00000138814	ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8652	0.70409	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPP3CA	102234097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.744000	0.85034	1.987000	0.57996	0.372000	0.22366	.		0.408	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944	Intron	5	253	0	0	0	1	0	5	253				
USP34	9736	broad.mit.edu	37	2	61566560	61566560	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:61566560T>A	ENST00000398571.2	-	18	2746	c.2670A>T	c.(2668-2670)ttA>ttT	p.L890F		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	890					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACCAACATACTAACGAACAAA	0.279																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(2668-2670)ttA>ttT		ubiquitin specific peptidase 34							80.0	72.0	75.0					2																	61566560		1797	4062	5859	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61566560T>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2670A>T	2.37:g.61566560T>A	ENSP00000381577:p.Leu890Phe						p.L890F	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		18	2746	-			890					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.2670A>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	18.07	3.542255	0.65198	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.06768	3.26	5.69	0.7	0.18099	.	0.000000	0.64402	D	0.000002	T	0.19805	0.0476	L	0.57536	1.79	0.47037	D	0.999291	D	0.65815	0.995	D	0.72982	0.979	T	0.00162	-1.1970	10	0.59425	D	0.04	.	9.164	0.37041	0.0:0.3577:0.0:0.6423	.	890	Q70CQ2	UBP34_HUMAN	F	738;738;890	ENSP00000381577:L890F	ENSP00000263989:L738F	L	-	3	2	USP34	61420064	1.000000	0.71417	0.997000	0.53966	0.833000	0.47200	0.723000	0.25939	-0.095000	0.12351	-0.467000	0.05162	TTA		0.279	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			4	69	0	0	0	1	0	4	69				
MPZL3	196264	broad.mit.edu	37	11	118111081	118111081	+	Missense_Mutation	SNP	C	C	T	rs201186451		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:118111081C>T	ENST00000278949.4	-	2	140	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	29					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)		p.V29I(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AAGGAAAAGACGATATAAACA	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19985	0.0		0.0	False		,,,				2504	0.0					ENST00000278949.4																			1	Substitution - Missense(1)	p.V29I(1)	large_intestine(1)	autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8						c.(85-87)Gtc>Atc		myelin protein zero-like 3							136.0	119.0	125.0					11																	118111081		2200	4296	6496	SO:0001583	missense	196264				cell adhesion	integral to membrane		g.chr11:118111081C>T	AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"""Immunoglobulin superfamily / V-set domain containing"""	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.85G>A	11.37:g.118111081C>T	ENSP00000278949:p.Val29Ile					MPZL3_ENST00000527472.1_Intron|MPZL3_ENST00000525386.1_Intron	p.V29I			Q6UWV2	MPZL3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	2	140	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	29					A8K025|B4DLD5|B4E2I8	Missense_Mutation	SNP	ENST00000278949.4	37	c.85G>A	CCDS8392.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.84	2.654334	0.47467	.	.	ENSG00000160588	ENST00000278949	D	0.95238	-3.65	5.51	4.6	0.57074	.	0.344830	0.26387	N	0.024677	D	0.89911	0.6852	L	0.29908	0.895	0.80722	D	1	B	0.17268	0.021	B	0.09377	0.004	D	0.86018	0.1505	10	0.37606	T	0.19	.	13.73	0.62781	0.0:0.9257:0.0:0.0743	.	29	Q6UWV2	MPZL3_HUMAN	I	29	ENSP00000278949:V29I	ENSP00000278949:V29I	V	-	1	0	MPZL3	117616291	0.022000	0.18835	0.689000	0.30133	0.991000	0.79684	0.853000	0.27777	1.462000	0.47948	0.655000	0.94253	GTC		0.388	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275		4	378	0	0	0	1	0	4	378				
CD109	135228	broad.mit.edu	37	6	74440152	74440152	+	Missense_Mutation	SNP	G	G	A	rs111900767		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:74440152G>A	ENST00000287097.5	+	4	474	c.362G>A	c.(361-363)cGc>cAc	p.R121H	CD109_ENST00000422508.2_Intron|CD109_ENST00000437994.2_Missense_Mutation_p.R121H			Q6YHK3	CD109_HUMAN	CD109 molecule	121					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AATAGTACCCGCTTATCATTT	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		18420	0.0		0.0	False		,,,				2504	0.001					ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(361-363)cGc>cAc		CD109 molecule							131.0	127.0	128.0					6																	74440152		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74440152G>A	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.362G>A	6.37:g.74440152G>A	ENSP00000287097:p.Arg121His					CD109_ENST00000422508.2_Intron|CD109_ENST00000287097.5_Missense_Mutation_p.R121H	p.R121H	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			4	793	+			121					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.362G>A	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	5.860	0.342880	0.11069	.	.	ENSG00000156535	ENST00000437994;ENST00000287097	T;T	0.24350	1.86;1.86	4.28	-2.17	0.07059	.	1.017200	0.07823	N	0.960159	T	0.03390	0.0098	N	0.14661	0.345	0.09310	N	0.999997	B;B;B	0.16396	0.017;0.004;0.001	B;B;B	0.13407	0.005;0.009;0.002	T	0.41106	-0.9527	10	0.39692	T	0.17	.	0.7748	0.01030	0.2431:0.3321:0.1914:0.2334	.	121;121;121	Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	H	121	ENSP00000388062:R121H;ENSP00000287097:R121H	ENSP00000287097:R121H	R	+	2	0	CD109	74496873	0.001000	0.12720	0.207000	0.23584	0.211000	0.24417	-0.075000	0.11431	-0.338000	0.08413	-0.150000	0.13652	CGC		0.418	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		60	22	0	0	0	1	0	60	22				
USP39	10713	broad.mit.edu	37	2	85863199	85863199	+	Missense_Mutation	SNP	T	T	C	rs374381478		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:85863199T>C	ENST00000323701.6	+	7	983	c.973T>C	c.(973-975)Tgg>Cgg	p.W325R	USP39_ENST00000409025.1_Missense_Mutation_p.W325R|USP39_ENST00000409470.1_Missense_Mutation_p.W325R|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409766.3_Missense_Mutation_p.W325R|USP39_ENST00000450066.2_Missense_Mutation_p.W222R	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	325	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CTTTCTGTCTTGGTTTCTGAA	0.398																																						ENST00000323701.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(973-975)Tgg>Cgg		ubiquitin specific peptidase 39		T	ARG/TRP	1,4405	2.1+/-5.4	0,1,2202	164.0	168.0	167.0		973	5.8	1.0	2		167	0,8600		0,0,4300	no	missense	USP39	NM_006590.2	101	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	325/566	85863199	1,13005	2203	4300	6503	SO:0001583	missense	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85863199T>C	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.973T>C	2.37:g.85863199T>C	ENSP00000312981:p.Trp325Arg					USP39_ENST00000409025.1_Missense_Mutation_p.W325R|USP39_ENST00000450066.2_Missense_Mutation_p.W222R|USP39_ENST00000409766.3_Missense_Mutation_p.W325R|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Missense_Mutation_p.W325R	p.W325R	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN			7	983	+			325					A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	ENST00000323701.6	37	c.973T>C	CCDS33234.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.411196	0.83340	2.27E-4	0.0	ENSG00000168883	ENST00000450066;ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T;T	0.29397	1.57;4.16;1.57;1.57;1.57	5.83	5.83	0.93111	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	H	0.95043	3.615	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.996;0.998;0.998;0.999;0.996	T	0.77835	-0.2440	10	0.87932	D	0	-7.3129	14.1404	0.65316	0.0:0.0:0.0:1.0	.	222;247;325;325;325;325	B4DHT4;B7Z7L9;G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;.;.;SNUT2_HUMAN	R	222;325;325;325;325;325	ENSP00000396133:W222R;ENSP00000386572:W325R;ENSP00000386864:W325R;ENSP00000312981:W325R;ENSP00000386803:W325R	ENSP00000312981:W325R	W	+	1	0	USP39	85716710	1.000000	0.71417	0.995000	0.50966	0.964000	0.63967	7.376000	0.79658	2.231000	0.72958	0.454000	0.30748	TGG		0.398	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		4	533	0	0	0	1	0	4	533				
MUC16	94025	broad.mit.edu	37	19	9015723	9015723	+	Silent	SNP	C	C	T	rs371329008	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:9015723C>T	ENST00000397910.4	-	29	38303	c.38100G>A	c.(38098-38100)ccG>ccA	p.P12700P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12702	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						TGAGGGTGAACGGCACCAGGA	0.468													-|||	7	0.00139776	0.0053	0.0	5008	,	,		14756	0.0		0.0	False		,,,				2504	0.0					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.(38098-38100)ccG>ccA		mucin 16, cell surface associated		C		13,3935		0,13,1961	193.0	169.0	177.0		38100	-5.8	0.0	19	dbSNP_134	177	0,8264		0,0,4132	no	coding-synonymous	MUC16	NM_024690.2		0,13,6093	TT,TC,CC		0.0,0.3293,0.1065		12700/14508	9015723	13,12199	1974	4132	6106	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9015723C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38100G>A	19.37:g.9015723C>T							p.P12700P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			29	38303	-			12702			SEA 5.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.38100G>A	CCDS54212.1																																																																																				0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	1906	0	0	0	1	0	10	1906				
ZAN	7455	broad.mit.edu	37	7	100350458	100350458	+	RNA	SNP	A	A	G	rs111855792		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:100350458A>G	ENST00000348028.3	+	0	2895				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCATCTCCCCAGAAAAACCCA	0.507																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							299.0	350.0	334.0					7																	100350458		1869	4094	5963			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350458A>G	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350458A>G						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2878	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.507	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	29	0	0	0	1	0	3	29				
MAP3K12	7786	broad.mit.edu	37	12	53876678	53876678	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:53876678G>A	ENST00000267079.2	-	12	2035	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	MAP3K12_ENST00000547035.1_Missense_Mutation_p.R637C|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R637C	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	604					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GACATTTTGCGGAGCAGGAGG	0.687																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(1810-1812)Cgc>Tgc		mitogen-activated protein kinase kinase kinase 12							42.0	47.0	45.0					12																	53876678		2202	4299	6501	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53876678G>A	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1810C>T	12.37:g.53876678G>A	ENSP00000267079:p.Arg604Cys					MAP3K12_ENST00000547488.1_Missense_Mutation_p.R637C|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R637C	p.R604C	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			12	2035	-			604					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.1810C>T	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259545	0.59321	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.80123	-1.33;-1.34;-1.34	3.99	3.99	0.46301	.	0.352402	0.20985	N	0.082143	T	0.78214	0.4248	L	0.32530	0.975	0.41767	D	0.989746	D;D	0.65815	0.995;0.991	P;B	0.50754	0.649;0.446	T	0.81182	-0.1049	10	0.66056	D	0.02	.	14.0207	0.64553	0.0:0.0:1.0:0.0	.	637;604	G3V1Y2;Q12852	.;M3K12_HUMAN	C	604;637;637	ENSP00000267079:R604C;ENSP00000449038:R637C;ENSP00000448689:R637C	ENSP00000267079:R604C	R	-	1	0	MAP3K12	52162945	0.877000	0.30153	1.000000	0.80357	0.991000	0.79684	2.204000	0.42761	2.523000	0.85059	0.491000	0.48974	CGC		0.687	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		3	182	0	0	0	1	0	3	182				
SLC45A1	50651	broad.mit.edu	37	1	8399610	8399610	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:8399610A>G	ENST00000471889.1	+	8	2217	c.1832A>G	c.(1831-1833)tAt>tGt	p.Y611C	SLC45A1_ENST00000377479.2_Missense_Mutation_p.Y645C|SLC45A1_ENST00000289877.8_Missense_Mutation_p.Y611C			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	611					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TTCATCGCCTATCTCGCCTTC	0.607																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(1831-1833)tAt>tGt		solute carrier family 45, member 1							157.0	138.0	145.0					1																	8399610		2203	4300	6503	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8399610A>G	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1832A>G	1.37:g.8399610A>G	ENSP00000418096:p.Tyr611Cys					SLC45A1_ENST00000289877.8_Missense_Mutation_p.Y611C|SLC45A1_ENST00000377479.2_Missense_Mutation_p.Y645C	p.Y611C			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	8	2217	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	611					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.1832A>G	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273035	0.80580	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.92699	-3.09;-3.09;-3.09	5.22	5.22	0.72569	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95592	0.8567	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95237	0.8348	10	0.42905	T	0.14	-16.5387	14.3011	0.66352	1.0:0.0:0.0:0.0	.	611	Q9Y2W3	S45A1_HUMAN	C	611;645;611	ENSP00000418096:Y611C;ENSP00000366699:Y645C;ENSP00000289877:Y611C	ENSP00000289877:Y611C	Y	+	2	0	SLC45A1	8322197	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	8.818000	0.91991	1.965000	0.57142	0.454000	0.30748	TAT		0.607	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			64	27	0	0	0	1	0	64	27				
PSMD4	5710	broad.mit.edu	37	1	151237916	151237916	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:151237916G>A	ENST00000368884.3	+	6	565	c.485G>A	c.(484-486)gGc>gAc	p.G162D	PSMD4_ENST00000368881.4_Missense_Mutation_p.G162D	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	162	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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 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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACGTTGAATGGCAAAGATGGA	0.517																																						ENST00000368884.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(7)	11						c.(484-486)gGc>gAc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 4							82.0	77.0	79.0					1																	151237916		2203	4298	6501	SO:0001583	missense	5710				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|DNA repair|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|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	g.chr1:151237916G>A	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"""Proteasome (prosome, macropain) subunits"""	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.485G>A	1.37:g.151237916G>A	ENSP00000357879:p.Gly162Asp					PSMD4_ENST00000368881.4_Missense_Mutation_p.G162D	p.G162D	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	565	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		162			VWFA.		D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	ENST00000368884.3	37	c.485G>A	CCDS991.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929112	0.92389	.	.	ENSG00000159352	ENST00000368884;ENST00000368881;ENST00000437736	T;T;T	0.26373	1.74;1.74;1.74	5.96	5.96	0.96718	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.48003	0.1476	M	0.83223	2.63	0.80722	D	1	D;D	0.60160	0.987;0.987	P;P	0.62491	0.903;0.903	T	0.47636	-0.9102	10	0.56958	D	0.05	-27.8244	20.0035	0.97427	0.0:0.0:1.0:0.0	.	162;162	Q5VWC4;P55036	.;PSMD4_HUMAN	D	162;162;147	ENSP00000357879:G162D;ENSP00000357876:G162D;ENSP00000414499:G147D	ENSP00000357876:G162D	G	+	2	0	PSMD4	149504540	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.400000	0.97290	2.833000	0.97629	0.650000	0.86243	GGC		0.517	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810		4	217	0	0	0	1	0	4	217				
FLG	2312	broad.mit.edu	37	1	152281389	152281389	+	Silent	SNP	C	C	T	rs138652718	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:152281389C>T	ENST00000368799.1	-	3	6008	c.5973G>A	c.(5971-5973)gcG>gcA	p.A1991A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1991	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGGATGACGCAGCCTGTC	0.572									Ichthyosis				-|||	9	0.00179712	0.0053	0.0029	5008	,	,		29400	0.0		0.0	False		,,,				2504	0.0					ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5971-5973)gcG>gcA		filaggrin		C		29,4377	33.5+/-64.1	0,29,2174	584.0	465.0	505.0		5973	-7.1	0.0	1	dbSNP_134	505	0,8600		0,0,4300	no	coding-synonymous	FLG	NM_002016.1		0,29,6474	TT,TC,CC		0.0,0.6582,0.223		1991/4062	152281389	29,12977	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281389C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5973G>A	1.37:g.152281389C>T						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.A1991A	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6008	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1991			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.5973G>A	CCDS30860.1																																																																																				0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		9	874	0	0	0	1	0	9	874				
SENP6	26054	broad.mit.edu	37	6	76380267	76380267	+	Splice_Site	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:76380267A>T	ENST00000447266.2	+	11	1702		c.e11-1		SENP6_ENST00000541192.1_Splice_Site|SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000370014.3_Splice_Site|SENP6_ENST00000327284.8_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_ENST00000327284.8_Splice_Site|SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000447266.2_Splice_Site|SENP6_ENST00000541192.1_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	5	86	0	0	0	1	0	5	86				
ARAP2	116984	broad.mit.edu	37	4	36162173	36162173	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:36162173C>T	ENST00000303965.4	-	13	2839	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	784	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTCTCTTTTCTACTGGTGAG	0.308																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(2350-2352)Gaa>Aaa		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							41.0	42.0	42.0					4																	36162173		2201	4288	6489	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36162173C>T	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.2350G>A	4.37:g.36162173C>T	ENSP00000302895:p.Glu784Lys						p.E784K	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			13	2839	-			784			Arf-GAP.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.2350G>A	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598885	0.87055	.	.	ENSG00000047365	ENST00000303965	T	0.44881	0.91	5.67	5.67	0.87782	.	0.108350	0.64402	D	0.000009	T	0.53642	0.1809	M	0.65975	2.015	0.45056	D	0.998075	D;P	0.53885	0.963;0.822	P;P	0.54174	0.744;0.478	T	0.51458	-0.8703	10	0.40728	T	0.16	.	13.0217	0.58791	0.0:0.9265:0.0:0.0735	.	714;784	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	K	784	ENSP00000302895:E784K	ENSP00000302895:E784K	E	-	1	0	ARAP2	35838568	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.570000	0.67398	2.670000	0.90874	0.655000	0.94253	GAA		0.308	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		3	39	0	0	0	1	0	3	39				
SNHG14	104472715	broad.mit.edu	37	15	25310247	25310247	+	RNA	SNP	A	A	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:25310247A>G	ENST00000549804.2	+	0	538				SNORD116-5_ENST00000384462.1_RNA|SNORD116-7_ENST00000384404.1_RNA|SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TCATACCGTCATTCTCATCGG	0.453																																						ENST00000549804.2																			0																				205.0	181.0	188.0					15																	25310247		876	1991	2867			104472715							g.chr15:25310247A>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25310247A>G						SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA								0	538	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.453	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			5	508	0	0	0	1	0	5	508				
OR2L3	391192	broad.mit.edu	37	1	248224344	248224344	+	Missense_Mutation	SNP	C	C	T	rs202209437		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:248224344C>T	ENST00000359959.3	+	1	361	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGCCTATGATCGTTACATTGC	0.443																																						ENST00000359959.3																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(361-363)Cgt>Tgt		olfactory receptor, family 2, subfamily L, member 3							265.0	269.0	268.0					1																	248224344		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224344C>T	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.361C>T	1.37:g.248224344C>T	ENSP00000353044:p.Arg121Cys					OR2L13_ENST00000366478.2_Intron	p.R121C	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	361	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		121					B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.361C>T	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	9.444	1.088746	0.20390	.	.	ENSG00000198128	ENST00000359959	T	0.77358	-1.09	1.91	0.938	0.19500	GPCR, rhodopsin-like superfamily (1);	0.540487	0.13896	N	0.355267	T	0.74711	0.3752	M	0.79614	2.46	0.41081	D	0.985523	B	0.22983	0.078	B	0.20184	0.028	T	0.69614	-0.5098	10	0.66056	D	0.02	.	7.9507	0.30012	0.0:0.8623:0.0:0.1377	.	121	Q8NG85	OR2L3_HUMAN	C	121	ENSP00000353044:R121C	ENSP00000353044:R121C	R	+	1	0	OR2L3	246290967	0.003000	0.15002	0.008000	0.14137	0.005000	0.04900	-0.032000	0.12266	0.121000	0.18284	-0.379000	0.06801	CGT		0.443	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		5	422	0	0	0	1	0	5	422				
GUF1	60558	broad.mit.edu	37	4	44696427	44696427	+	Splice_Site	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:44696427A>T	ENST00000281543.5	+	14	1807		c.e14-1		RP11-700J17.1_ENST00000610260.1_RNA|GUF1_ENST00000506793.1_Splice_Site	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTTCCTTTTAGTTTTGATTA	0.343																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.e14-1		GUF1 GTPase homolog (S. cerevisiae)							80.0	81.0	81.0					4																	44696427		2203	4297	6500	SO:0001630	splice_region_variant	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44696427A>T		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1614-1A>T	4.37:g.44696427A>T						GUF1_ENST00000506793.1_Splice_Site		NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN			14	1807	+									Splice_Site	SNP	ENST00000281543.5	37		CCDS3468.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.789302	0.49997	.	.	ENSG00000151806	ENST00000281543	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6308	0.68655	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GUF1	44391184	1.000000	0.71417	0.956000	0.39512	0.701000	0.40568	8.881000	0.92415	2.055000	0.61198	0.482000	0.46254	.		0.343	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927	Intron	4	72	0	0	0	1	0	4	72				
MAP3K19	80122	broad.mit.edu	37	2	135740822	135740822	+	Intron	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:135740822C>T	ENST00000375845.3	-	8	3253				MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.W1118*	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19								ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTGTTTTTGCCATCTAGTAAT	0.413																																						ENST00000392915.1																			0											c.(3352-3354)tGg>tAg		mitogen-activated protein kinase kinase kinase 19							158.0	156.0	157.0					2																	135740822		876	1991	2867	SO:0001627	intron_variant	80122							g.chr2:135740822C>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3222+423G>A	2.37:g.135740822C>T						MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000315513.3_5'UTR	p.W1118*							9	3472	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Nonsense_Mutation	SNP	ENST00000375845.3	37	c.3353G>A	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	37	6.474427	0.97594	.	.	ENSG00000176601	ENST00000392915	.	.	.	3.58	-2.94	0.05581	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3282	0.38005	0.0:0.2999:0.0:0.7001	.	.	.	.	X	1118	.	ENSP00000376647:W1118X	W	-	2	0	YSK4	135457292	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-0.743000	0.04845	-0.737000	0.04824	0.579000	0.79373	TGG		0.413	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		3	157	0	0	0	1	0	3	157				
MRGPRX3	117195	broad.mit.edu	37	11	18159156	18159156	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:18159156G>A	ENST00000396275.2	+	3	768	c.407G>A	c.(406-408)aGa>aAa	p.R136K		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CGCCGCCCCAGATACCTGTCA	0.567																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(406-408)aGa>aAa		MAS-related GPR, member X3							123.0	115.0	118.0					11																	18159156		2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159156G>A		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.407G>A	11.37:g.18159156G>A	ENSP00000379571:p.Arg136Lys						p.R136K	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	768	+			136					B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.407G>A	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	G	3.829	-0.036268	0.07497	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.70516	-0.49;-0.49	1.46	-2.31	0.06765	GPCR, rhodopsin-like superfamily (1);	0.688882	0.14303	N	0.328148	T	0.43055	0.1230	N	0.11313	0.125	0.09310	N	1	B	0.23735	0.09	B	0.31245	0.126	T	0.34378	-0.9831	10	0.13853	T	0.58	.	3.6529	0.08210	0.3127:0.419:0.2683:0.0	.	136	Q96LB0	MRGX3_HUMAN	K	136	ENSP00000379571:R136K;ENSP00000436242:R136K	ENSP00000379571:R136K	R	+	2	0	MRGPRX3	18115732	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.811000	0.04500	-0.688000	0.05155	-2.855000	0.00102	AGA		0.567	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		5	137	0	0	0	1	0	5	137				
SERTAD3	29946	broad.mit.edu	37	19	40947607	40947607	+	Silent	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:40947607G>A	ENST00000322354.3	-	2	877	c.381C>T	c.(379-381)ccC>ccT	p.P127P	CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000392028.4_Silent_p.P127P|SERTAD3_ENST00000601217.1_5'Flank	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	127					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GATCAGGCTGGGGTGGCACTT	0.557																																						ENST00000322354.3																			0				kidney(1)|large_intestine(4)|lung(2)	7						c.(379-381)ccC>ccT		SERTA domain containing 3							60.0	65.0	63.0					19																	40947607		2203	4300	6503	SO:0001819	synonymous_variant	29946				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr19:40947607G>A	AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"""RPA-binding trans-activator"""	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.381C>T	19.37:g.40947607G>A						SERTAD3_ENST00000392028.4_Silent_p.P127P	p.P127P	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	877	-			127					B3KQB3|Q96CQ2	Silent	SNP	ENST00000322354.3	37	c.381C>T	CCDS12558.1																																																																																				0.557	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462573.1	NM_013368		4	392	0	0	0	1	0	4	392				
ITGA4	3676	broad.mit.edu	37	2	182400218	182400218	+	Missense_Mutation	SNP	T	T	A	rs550966429		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:182400218T>A	ENST00000397033.2	+	28	3493	c.3063T>A	c.(3061-3063)agT>agA	p.S1021R		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	1021					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GAAGAGACAGTTGGAGTTATA	0.313																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(3061-3063)agT>agA		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						146.0	146.0	146.0					2																	182400218		1824	4078	5902	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182400218T>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.3063T>A	2.37:g.182400218T>A	ENSP00000380227:p.Ser1021Arg						p.S1021R	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		28	3493	+			1021					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.3063T>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.944818	0.73672	.	.	ENSG00000115232	ENST00000397033	T	0.66099	-0.19	5.45	-0.279	0.12890	.	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	L	0.58101	1.795	0.51233	D	0.999915	D	0.89917	1.0	D	0.85130	0.997	T	0.66168	-0.5991	10	0.42905	T	0.14	.	10.6919	0.45875	0.0:0.4424:0.0:0.5576	.	1021	P13612	ITA4_HUMAN	R	1021	ENSP00000380227:S1021R	ENSP00000380227:S1021R	S	+	3	2	ITGA4	182108463	0.907000	0.30839	0.996000	0.52242	0.972000	0.66771	-0.275000	0.08525	-0.283000	0.09115	0.460000	0.39030	AGT		0.313	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			4	282	0	0	0	1	0	4	282				
CAMTA1	23261	broad.mit.edu	37	1	7797351	7797351	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:7797351G>A	ENST00000303635.7	+	15	3586	c.3379G>A	c.(3379-3381)Gtc>Atc	p.V1127I	CAMTA1_ENST00000439411.2_Missense_Mutation_p.V1127I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGAAGCTGCCGTCGTGCTGTA	0.557			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(3379-3381)Gtc>Atc		calmodulin binding transcription activator 1							101.0	104.0	103.0					1																	7797351		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7797351G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3379G>A	1.37:g.7797351G>A	ENSP00000306522:p.Val1127Ile					CAMTA1_ENST00000439411.2_Missense_Mutation_p.V1127I	p.V1127I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	15	3586	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1127					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.3379G>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136969	0.56936	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	T;T	0.33438	1.41;1.41	5.91	4.99	0.66335	Ankyrin repeat-containing domain (3);	0.058965	0.64402	D	0.000003	T	0.20333	0.0489	N	0.19112	0.55	0.53005	D	0.99996	B;B;B;B	0.28850	0.094;0.095;0.225;0.046	B;B;B;B	0.19666	0.026;0.012;0.026;0.011	T	0.03587	-1.1022	10	0.33940	T	0.23	-20.0504	15.3596	0.74460	0.0673:0.0:0.9327:0.0	.	1127;214;83;1127	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;.;CMTA1_HUMAN	I	1127;1127;214;83	ENSP00000306522:V1127I;ENSP00000402561:V1127I	ENSP00000306522:V1127I	V	+	1	0	CAMTA1	7719938	1.000000	0.71417	0.781000	0.31783	0.979000	0.70002	5.673000	0.68109	2.793000	0.96121	0.655000	0.94253	GTC		0.557	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		4	119	0	0	0	1	0	4	119				
CCDC146	57639	broad.mit.edu	37	7	76885765	76885765	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:76885765A>G	ENST00000285871.4	+	6	750	c.623A>G	c.(622-624)aAg>aGg	p.K208R	AC073635.5_ENST00000476561.2_RNA|CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	208										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TCTAAACAAAAGCAATTATTA	0.323																																						ENST00000285871.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(622-624)aAg>aGg		coiled-coil domain containing 146							66.0	65.0	65.0					7																	76885765		2203	4299	6502	SO:0001583	missense	57639							g.chr7:76885765A>G	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.623A>G	7.37:g.76885765A>G	ENSP00000285871:p.Lys208Arg					CCDC146_ENST00000431197.1_5'UTR|AC073635.5_ENST00000476561.2_RNA	p.K208R	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN			6	750	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	208					A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.623A>G	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.154770	0.38021	.	.	ENSG00000135205	ENST00000285871	D	0.84944	-1.92	5.95	4.61	0.57282	.	0.221533	0.44902	D	0.000402	T	0.71846	0.3388	N	0.16903	0.455	0.80722	D	1	B	0.26318	0.146	B	0.27076	0.076	T	0.66905	-0.5805	10	0.24483	T	0.36	-27.9408	8.8489	0.35188	0.8455:0.0:0.1545:0.0	.	208	Q8IYE0	CC146_HUMAN	R	208	ENSP00000285871:K208R	ENSP00000285871:K208R	K	+	2	0	AC007000.1	76723701	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	2.189000	0.42621	2.272000	0.75746	0.460000	0.39030	AAG		0.323	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		6	402	0	0	0	1	0	6	402				
IFT74	80173	broad.mit.edu	37	9	26988665	26988665	+	Splice_Site	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:26988665A>T	ENST00000443698.1	+	7	636		c.e7-1		IFT74_ENST00000429045.2_Splice_Site|IFT74_ENST00000380062.5_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_ENST00000429045.2_Splice_Site|IFT74_ENST00000380062.5_Splice_Site|IFT74_ENST00000433700.1_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	4	27	0	0	0	1	0	4	27				
ATP1A3	478	broad.mit.edu	37	19	42492233	42492233	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:42492233G>A	ENST00000302102.5	-	4	362	c.212C>T	c.(211-213)aCg>aTg	p.T71M	ATP1A3_ENST00000543770.1_Missense_Mutation_p.T82M|ATP1A3_ENST00000602133.1_Missense_Mutation_p.T41M|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000545399.1_Missense_Mutation_p.T84M	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	71					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGGCGGTGGCGTGAGTGCGTT	0.632																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(250-252)aCg>aTg		ATPase, Na+/K+ transporting, alpha 3 polypeptide							109.0	112.0	111.0					19																	42492233		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42492233G>A		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.212C>T	19.37:g.42492233G>A	ENSP00000302397:p.Thr71Met					ATP1A3_ENST00000543770.1_Missense_Mutation_p.T82M|ATP1A3_ENST00000602133.1_Missense_Mutation_p.T41M|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000302102.5_Missense_Mutation_p.T71M	p.T84M	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			4	404	-			71					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.251C>T	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982885	0.53827	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770;ENST00000448429	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.09	4.09	0.47781	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92538	0.7630	H	0.98721	4.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.981;0.986;0.995;0.992	D	0.95233	0.8344	10	0.87932	D	0	.	14.1703	0.65506	0.0:0.0:1.0:0.0	.	84;82;71;71	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	M	71;71;84;41;82;84	ENSP00000302397:T71M;ENSP00000411503:T71M;ENSP00000444688:T84M;ENSP00000437577:T82M	ENSP00000302397:T71M	T	-	2	0	ATP1A3	47184073	1.000000	0.71417	0.907000	0.35723	0.049000	0.14656	9.808000	0.99193	2.010000	0.58986	0.491000	0.48974	ACG		0.632	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		141	215	0	0	0	1	0	141	215				
DHX35	60625	broad.mit.edu	37	20	37620095	37620095	+	Splice_Site	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr20:37620095A>T	ENST00000252011.3	+	6	483		c.e6-1		DHX35_ENST00000373323.4_Splice_Site|DHX35_ENST00000373325.2_Splice_Site	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35						mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TTTATTTTTTAGTTTCTTACT	0.313																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.e6-1		DEAH (Asp-Glu-Ala-His) box polypeptide 35							112.0	112.0	112.0					20																	37620095		2203	4300	6503	SO:0001630	splice_region_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37620095A>T	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.451-1A>T	20.37:g.37620095A>T						DHX35_ENST00000373323.4_Splice_Site|DHX35_ENST00000373325.2_Splice_Site		NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			6	483	+		Myeloproliferative disorder(115;0.00878)						A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Splice_Site	SNP	ENST00000252011.3	37		CCDS13310.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028280	0.75390	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	.	.	.	5.95	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9984	0.47591	0.9261:0.0:0.0739:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX35	37053509	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.751000	0.85126	1.066000	0.40716	0.460000	0.39030	.		0.313	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931	Intron	7	211	0	0	0	1	0	7	211				
IL12RB1	3594	broad.mit.edu	37	19	18173055	18173055	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:18173055C>T	ENST00000600835.2	-	15	1949	c.1651G>A	c.(1651-1653)Gcc>Acc	p.A551T	IL12RB1_ENST00000593993.2_Missense_Mutation_p.A551T			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	551					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCCAGGGAGGCGAAGAAGATG	0.572																																						ENST00000600835.1																			0				endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(1651-1653)Gcc>Acc		interleukin 12 receptor, beta 1							93.0	98.0	97.0					19																	18173055		2008	4175	6183	SO:0001583	missense	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18173055C>T	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1651G>A	19.37:g.18173055C>T	ENSP00000470788:p.Ala551Thr					IL12RB1_ENST00000593993.1_Missense_Mutation_p.A551T|IL12RB1_ENST00000430026.2_Missense_Mutation_p.A551T	p.A551T			P42701	I12R1_HUMAN			15	1954	-			551					A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	c.1651G>A	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295366	0.40594	.	.	ENSG00000096996	ENST00000430026	D	0.82526	-1.62	2.49	0.234	0.15390	.	1.214380	0.06327	N	0.705434	T	0.80732	0.4679	L	0.50333	1.59	0.09310	N	1	D;D	0.60160	0.987;0.977	P;P	0.51016	0.656;0.454	T	0.66212	-0.5980	10	0.26408	T	0.33	-1.7014	3.7268	0.08477	0.0:0.5885:0.2579:0.1536	.	551;551	P42701-2;P42701	.;I12R1_HUMAN	T	551	ENSP00000403103:A551T	ENSP00000403103:A551T	A	-	1	0	IL12RB1	18034055	0.000000	0.05858	0.000000	0.03702	0.860000	0.49131	-0.057000	0.11768	0.148000	0.19059	0.313000	0.20887	GCC		0.572	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			21	325	0	0	0	1	0	21	325				
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000487020.1_5'Flank|OSBPL3_ENST00000431825.2_Splice_Site	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_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000396431.1_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	10	258	0	0	0	1	0	10	258				
OR10A2	341276	broad.mit.edu	37	11	6891808	6891808	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:6891808A>C	ENST00000307322.4	+	1	885	c.823A>C	c.(823-825)Att>Ctt	p.I275L		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTTGAACCCCATTATCTACAG	0.468																																						ENST00000307322.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24						c.(823-825)Att>Ctt		olfactory receptor, family 10, subfamily A, member 2							137.0	131.0	133.0					11																	6891808		2201	4296	6497	SO:0001583	missense	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891808A>C	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.823A>C	11.37:g.6891808A>C	ENSP00000303862:p.Ile275Leu						p.I275L	NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	885	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	275					B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	37	c.823A>C	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	a	0.123	-1.122900	0.01785	.	.	ENSG00000170790	ENST00000307322	T	0.37752	1.18	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.13372	0.0324	N	0.05280	-0.08	0.25508	N	0.98749	B	0.13594	0.008	B	0.13407	0.009	T	0.32402	-0.9908	10	0.02654	T	1	.	6.4514	0.21906	0.8907:0.0:0.1093:0.0	.	275	Q9H208	O10A2_HUMAN	L	275	ENSP00000303862:I275L	ENSP00000303862:I275L	I	+	1	0	OR10A2	6848384	0.000000	0.05858	0.998000	0.56505	0.071000	0.16799	-0.493000	0.06459	1.908000	0.55244	0.529000	0.55759	ATT		0.468	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		4	290	0	0	0	1	0	4	290				
MRPL2	51069	broad.mit.edu	37	6	43023724	43023724	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:43023724G>A	ENST00000388752.3	-	5	966	c.542C>T	c.(541-543)gCg>gTg	p.A181V	CUL7_ENST00000535468.1_5'Flank|MRPL2_ENST00000230413.5_Missense_Mutation_p.A181V|MRPL2_ENST00000489623.1_Intron|CUL7_ENST00000265348.3_5'Flank	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	181					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		AAGAGGATGCGCATCCCCTTC	0.552																																						ENST00000388752.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9						c.(541-543)gCg>gTg		mitochondrial ribosomal protein L2							56.0	53.0	54.0					6																	43023724		2203	4300	6503	SO:0001583	missense	51069				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:43023724G>A	AB051617	CCDS34454.1, CCDS75458.1	6p21.3	2012-09-13			ENSG00000112651	ENSG00000112651		"""Mitochondrial ribosomal proteins / large subunits"""	14056	protein-coding gene	gene with protein product		611822					Standard	XM_005249161		Approved	MRP-L14, RPML14, CGI-22	uc003ots.1	Q5T653	OTTHUMG00000014719	ENST00000388752.3:c.542C>T	6.37:g.43023724G>A	ENSP00000373404:p.Ala181Val					MRPL2_ENST00000489623.1_Intron|MRPL2_ENST00000230413.5_Missense_Mutation_p.A181V	p.A181V	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)	5	966	-		Ovarian(999;0.0014)	181					B2RC56|Q8WUL1|Q96Q56|Q9Y311	Missense_Mutation	SNP	ENST00000388752.3	37	c.542C>T	CCDS34454.1	.	.	.	.	.	.	.	.	.	.	G	35	5.538874	0.96474	.	.	ENSG00000112651	ENST00000388752;ENST00000230413	T;T	0.44083	0.93;0.93	5.73	5.73	0.89815	Translation protein SH3-like (1);Translation protein SH3-like, subgroup (1);Ribosomal protein L2, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	M	0.71296	2.17	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.60131	-0.7323	10	0.62326	D	0.03	-12.9536	18.0825	0.89445	0.0:0.0:1.0:0.0	.	181	Q5T653	RM02_HUMAN	V	181	ENSP00000373404:A181V;ENSP00000230413:A181V	ENSP00000230413:A181V	A	-	2	0	MRPL2	43131702	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.464000	0.97655	2.706000	0.92434	0.563000	0.77884	GCG		0.552	MRPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040577.2			3	73	0	0	0	1	0	3	73				
ZMAT2	153527	broad.mit.edu	37	5	140083501	140083501	+	Splice_Site	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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	6	499	0	0	0	1	0	6	499				
TAF7	6879	broad.mit.edu	37	5	140699180	140699180	+	Silent	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:140699180C>T	ENST00000313368.5	-	1	1150	c.432G>A	c.(430-432)agG>agA	p.R144R		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	144					DNA-templated transcription, initiation (GO:0006352)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of histone acetylation (GO:0035067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermine transport (GO:0000296)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	histone acetyltransferase binding (GO:0035035)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|vitamin D receptor binding (GO:0042809)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTTCTCTTCCTGACATTCT	0.388																																						ENST00000313368.5																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12						c.(430-432)agG>agA		TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa							120.0	126.0	124.0					5																	140699180		2203	4300	6503	SO:0001819	synonymous_variant	6879				negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding	g.chr5:140699180C>T	AF349038	CCDS4259.1	5q31	2008-02-05	2002-08-29	2001-12-07	ENSG00000178913	ENSG00000178913			11541	protein-coding gene	gene with protein product		600573	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD"""	TAF2F		7824954	Standard	NM_005642		Approved	TAFII55	uc003ljg.3	Q15545	OTTHUMG00000129628	ENST00000313368.5:c.432G>A	5.37:g.140699180C>T							p.R144R	NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1150	-			144					B2RBV9|Q13036	Silent	SNP	ENST00000313368.5	37	c.432G>A	CCDS4259.1																																																																																				0.388	TAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251823.2	NM_005642		5	157	0	0	0	1	0	5	157				
WDR27	253769	broad.mit.edu	37	6	170033136	170033136	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:170033136C>A	ENST00000448612.1	-	21	2239	c.2130G>T	c.(2128-2130)agG>agT	p.R710S	WDR27_ENST00000423258.1_Missense_Mutation_p.R583S|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000333572.6_Missense_Mutation_p.R710S	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	680						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CTTCCACGGTCCTGTTCCGGC	0.532																																						ENST00000333572.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12						c.(2128-2130)agG>agT		WD repeat domain 27							59.0	61.0	60.0					6																	170033136		1997	4161	6158	SO:0001583	missense	253769							g.chr6:170033136C>A	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.2130G>T	6.37:g.170033136C>A	ENSP00000416289:p.Arg710Ser					WDR27_ENST00000448612.1_Missense_Mutation_p.R710S|WDR27_ENST00000423258.1_Missense_Mutation_p.R583S|WDR27_ENST00000546525.1_5'UTR	p.R710S			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	21	2649	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	680					A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.2130G>T	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838957	0.32513	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.39592	5.02;1.07;5.02	5.04	0.587	0.17439	.	0.000000	0.64402	D	0.000001	T	0.37785	0.1016	L	0.57536	1.79	0.30279	N	0.791524	D;D;D	0.89917	0.997;1.0;0.992	D;D;P	0.83275	0.938;0.996;0.804	T	0.20874	-1.0262	10	0.51188	T	0.08	-24.8568	5.8724	0.18810	0.0:0.1766:0.1642:0.6593	.	710;583;710	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	S	710;710;583	ENSP00000416289:R710S;ENSP00000330265:R710S;ENSP00000397869:R583S	ENSP00000330265:R710S	R	-	3	2	WDR27	169775061	0.433000	0.25562	0.002000	0.10522	0.064000	0.16182	0.139000	0.16036	-0.129000	0.11620	-0.142000	0.14014	AGG		0.532	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		22	12	1	0	1.66031e-10	1	1.77415e-10	22	12				
MUC16	94025	broad.mit.edu	37	19	9065630	9065630	+	Silent	SNP	A	A	T	rs569047320		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:9065630A>T	ENST00000397910.4	-	3	22019	c.21816T>A	c.(21814-21816)atT>atA	p.I7272I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7274	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						TAGTAGCACCAATGGACACTT	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(21814-21816)atT>atA		mucin 16, cell surface associated							138.0	132.0	134.0					19																	9065630		2007	4174	6181	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065630A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21816T>A	19.37:g.9065630A>T							p.I7272I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	22019	-			7274			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.21816T>A	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	765	0	0	0	1	0	7	765				
MMP2	4313	broad.mit.edu	37	16	55523710	55523710	+	Missense_Mutation	SNP	G	G	A	rs371828436		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:55523710G>A	ENST00000219070.4	+	7	1663	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	MMP2_ENST00000543485.1_Missense_Mutation_p.R309H|MMP2_ENST00000570308.1_Missense_Mutation_p.R309H|MMP2_ENST00000437642.2_Missense_Mutation_p.R335H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	385	Collagen-binding.|Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GATGATGACCGCAAGTGGGGC	0.567																																						ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1153-1155)cGc>cAc		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						89.0	72.0	78.0					16																	55523710		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55523710G>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1154G>A	16.37:g.55523710G>A	ENSP00000219070:p.Arg385His					MMP2_ENST00000543485.1_Missense_Mutation_p.R309H|MMP2_ENST00000437642.2_Missense_Mutation_p.R335H|MMP2_ENST00000570308.1_Missense_Mutation_p.R309H	p.R385H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	7	1663	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	385			Collagen-binding.|Fibronectin type-II 3.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1154G>A	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849232	0.91277	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.50277	0.75;0.75;0.75	5.05	5.05	0.67936	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.059398	0.64402	D	0.000001	T	0.56615	0.1997	L	0.48935	1.535	0.80722	D	1	B;D	0.71674	0.415;0.998	B;P	0.53912	0.128;0.737	T	0.59568	-0.7430	10	0.59425	D	0.04	.	18.7816	0.91934	0.0:0.0:1.0:0.0	.	335;385	E9PE45;P08253	.;MMP2_HUMAN	H	385;309;335	ENSP00000219070:R385H;ENSP00000444143:R309H;ENSP00000394237:R335H	ENSP00000219070:R385H	R	+	2	0	MMP2	54081211	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.717000	0.68446	2.504000	0.84457	0.655000	0.94253	CGC		0.567	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			4	182	0	0	0	1	0	4	182				
ANKRD36BP2	645784	broad.mit.edu	37	2	89084114	89084114	+	RNA	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:89084114G>A	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		TTGCTTTTCAGTGTCTTCTCA	0.313																																						ENST00000393525.3																			0																																																			645784							g.chr2:89084114G>A			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89084114G>A														0	576	+									RNA	SNP	ENST00000393525.3	37																																																																																						0.313	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			5	138	0	0	0	1	0	5	138				
DOCK3	1795	broad.mit.edu	37	3	51308360	51308360	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:51308360C>A	ENST00000266037.9	+	24	2493	c.2470C>A	c.(2470-2472)Cac>Aac	p.H824N		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	824					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGCACTGTGCACATTGGGCA	0.512																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(2470-2472)Cac>Aac		dedicator of cytokinesis 3							141.0	143.0	143.0					3																	51308360		2094	4230	6324	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51308360C>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2470C>A	3.37:g.51308360C>A	ENSP00000266037:p.His824Asn						p.H824N	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	24	2493	+			824					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.2470C>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954287	0.34471	.	.	ENSG00000088538	ENST00000266037	T	0.04862	3.54	5.54	5.54	0.83059	.	0.101382	0.64402	D	0.000003	T	0.09247	0.0228	L	0.51422	1.61	0.53005	D	0.999965	B	0.23058	0.079	B	0.23275	0.045	T	0.26677	-1.0096	10	0.17832	T	0.49	.	19.4671	0.94946	0.0:1.0:0.0:0.0	.	824	Q8IZD9	DOCK3_HUMAN	N	824	ENSP00000266037:H824N	ENSP00000266037:H824N	H	+	1	0	DOCK3	51283400	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.075000	0.41538	2.608000	0.88229	0.585000	0.79938	CAC		0.512	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		6	208	1	0	0.00116845	1	0.00119399	6	208				
NHEJ1	79840	broad.mit.edu	37	2	220022916	220022916	+	Nonsense_Mutation	SNP	G	G	A	rs118204451		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:220022916G>A	ENST00000356853.5	-	2	302	c.169C>T	c.(169-171)Cga>Tga	p.R57*	NHEJ1_ENST00000409720.1_Nonsense_Mutation_p.R57*	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	57	Globular head.		R -> G (in NHEJ1-SCID; fails to translocate to the nucleus). {ECO:0000269|PubMed:16439204}.		B cell differentiation (GO:0030183)|central nervous system development (GO:0007417)|DNA recombination (GO:0006310)|double-strand break repair via nonhomologous end joining (GO:0006303)|positive regulation of ligase activity (GO:0051351)|response to ionizing radiation (GO:0010212)|T cell differentiation (GO:0030217)	nonhomologous end joining complex (GO:0070419)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		ACCTTGGCTCGCTGGCTGACC	0.507								Non-homologous end-joining																														ENST00000356853.5																			0				kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12	GRCh37	CM067704	NHEJ1	M	rs118204451	c.(169-171)Cga>Tga	Non-homologous end-joining	nonhomologous end-joining factor 1							137.0	117.0	124.0					2																	220022916		2203	4300	6503	SO:0001587	stop_gained	79840				B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding	g.chr2:220022916G>A	AJ972687	CCDS2432.1	2q35	2014-09-17			ENSG00000187736	ENSG00000187736			25737	protein-coding gene	gene with protein product		611290				16439204, 16439205	Standard	NM_024782		Approved	Cernunnos, XLF, FLJ12610	uc002vjp.4	Q9H9Q4	OTTHUMG00000133127	ENST00000356853.5:c.169C>T	2.37:g.220022916G>A	ENSP00000349313:p.Arg57*					NHEJ1_ENST00000409720.1_Nonsense_Mutation_p.R57*	p.R57*	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)	2	302	-		Renal(207;0.0915)	57		R -> G (in NHEJ1-SCID; fails to translocate to the nucleus).			B8ZZA4|Q4ZFW7|Q6IA64|Q96JS9	Nonsense_Mutation	SNP	ENST00000356853.5	37	c.169C>T	CCDS2432.1	.	.	.	.	.	.	.	.	.	.	G	36	5.600891	0.96614	.	.	ENSG00000187736	ENST00000409720;ENST00000356853;ENST00000457600	.	.	.	5.7	4.76	0.60689	.	0.000000	0.64402	U	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.4711	13.9552	0.64142	0.0:0.0:0.7753:0.2247	.	.	.	.	X	57	.	ENSP00000349313:R57X	R	-	1	2	NHEJ1	219731160	0.963000	0.33076	1.000000	0.80357	0.998000	0.95712	0.286000	0.18902	2.683000	0.91414	0.655000	0.94253	CGA		0.507	NHEJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256817.2	NM_024782		4	438	0	0	0	1	0	4	438				
LRCH3	84859	broad.mit.edu	37	3	197544159	197544159	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:197544159C>A	ENST00000425562.2	+	3	520	c.520C>A	c.(520-522)Cat>Aat	p.H174N	LRCH3_ENST00000334859.4_Missense_Mutation_p.H174N|LRCH3_ENST00000414675.2_Missense_Mutation_p.H174N|LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000438796.2_Missense_Mutation_p.H174N			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	174						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		ACACCTTAGACATTTGATGGA	0.338																																						ENST00000438796.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(520-522)Cat>Aat		leucine-rich repeats and calponin homology (CH) domain containing 3							110.0	108.0	108.0					3																	197544159		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197544159C>A	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.520C>A	3.37:g.197544159C>A	ENSP00000393579:p.His174Asn					LRCH3_ENST00000414675.2_Missense_Mutation_p.H174N|LRCH3_ENST00000334859.4_Missense_Mutation_p.H174N|LRCH3_ENST00000425562.2_Missense_Mutation_p.H174N|LRCH3_ENST00000441090.2_Intron	p.H174N			Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	3	564	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		174					B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.520C>A		.	.	.	.	.	.	.	.	.	.	C	6.467	0.454407	0.12283	.	.	ENSG00000186001	ENST00000438796;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.15	1.92	0.25849	.	0.322276	0.32785	N	0.005646	T	0.14184	0.0343	N	0.00514	-1.41	0.80722	D	1	B;P;B	0.40875	0.001;0.731;0.001	B;B;B	0.41946	0.012;0.371;0.009	T	0.04140	-1.0974	10	0.15952	T	0.53	-4.3306	4.8387	0.13478	0.1434:0.5911:0.0:0.2656	.	174;174;174	B4E0T7;Q96II8-2;Q96II8-3	.;.;.	N	174	ENSP00000399751:H174N;ENSP00000394965:H174N;ENSP00000334375:H174N;ENSP00000393579:H174N	ENSP00000334375:H174N	H	+	1	0	LRCH3	199028556	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.691000	0.25467	0.141000	0.18875	0.585000	0.79938	CAT		0.338	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		4	174	1	0	1	1	1	4	174				
TAF1L	138474	broad.mit.edu	37	9	32631342	32631342	+	Silent	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:32631342G>A	ENST00000242310.4	-	1	4325	c.4236C>T	c.(4234-4236)atC>atT	p.I1412I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1412					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCATGTCATTGATGATAGACT	0.458																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(4234-4236)atC>atT		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							320.0	286.0	298.0					9																	32631342		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631342G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4236C>T	9.37:g.32631342G>A							p.I1412I	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4325	-			1412					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.4236C>T	CCDS35003.1																																																																																				0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			8	1163	0	0	0	1	0	8	1163				
KIAA1324	57535	broad.mit.edu	37	1	109740267	109740267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:109740267C>T	ENST00000369939.3	+	16	2476	c.2293C>T	c.(2293-2295)Cga>Tga	p.R765*	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Nonsense_Mutation_p.R678*	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	765					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CCTTGCTGATCGACTTATTGG	0.527																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2293-2295)Cga>Tga		KIAA1324							42.0	36.0	38.0					1																	109740267		2203	4300	6503	SO:0001587	stop_gained	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109740267C>T	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2293C>T	1.37:g.109740267C>T	ENSP00000358955:p.Arg765*					KIAA1324_ENST00000529753.1_Nonsense_Mutation_p.R678*|KIAA1324_ENST00000369938.1_3'UTR	p.R765*	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	16	2476	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	765					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Nonsense_Mutation	SNP	ENST00000369939.3	37	c.2293C>T	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	38	7.185109	0.98121	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	.	.	.	6.08	5.16	0.70880	.	0.510190	0.21770	N	0.069377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-7.4744	15.905	0.79419	0.1362:0.8638:0.0:0.0	.	.	.	.	X	765;715;678	.	ENSP00000358955:R765X	R	+	1	2	KIAA1324	109541790	0.012000	0.17670	0.649000	0.29536	0.820000	0.46376	0.905000	0.28504	1.560000	0.49568	0.655000	0.94253	CGA		0.527	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		6	28	0	0	0	1	0	6	28				
AMPD3	272	broad.mit.edu	37	11	10523064	10523064	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:10523064C>T	ENST00000396554.3	+	12	2137	c.1796C>T	c.(1795-1797)gCc>gTc	p.A599V	AMPD3_ENST00000444303.2_Missense_Mutation_p.A431V|AMPD3_ENST00000530864.1_3'UTR	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	590					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGTGGGGAAGCCGGCTCCATC	0.627																																						ENST00000444303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(1291-1293)gCc>gTc		adenosine monophosphate deaminase 3							55.0	46.0	49.0					11																	10523064		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10523064C>T	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1796C>T	11.37:g.10523064C>T	ENSP00000379802:p.Ala599Val					AMPD3_ENST00000396554.3_Missense_Mutation_p.A599V|AMPD3_ENST00000530864.1_3'UTR	p.A431V	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	11	1764	+			590					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.1292C>T	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	C	36	5.790865	0.96945	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	5.61	5.61	0.85477	Adenosine/AMP deaminase (1);	0.096318	0.64402	D	0.000001	D	0.91526	0.7324	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.98;0.994;0.98	D	0.91820	0.5466	10	0.66056	D	0.02	-4.9941	19.6449	0.95773	0.0:1.0:0.0:0.0	.	597;590;599	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	V	431;599;590;597;590	ENSP00000396000:A431V;ENSP00000379802:A599V;ENSP00000379801:A590V;ENSP00000436987:A597V;ENSP00000431648:A590V	ENSP00000379801:A590V	A	+	2	0	AMPD3	10479640	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.818000	0.86416	2.627000	0.88993	0.563000	0.77884	GCC		0.627	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		3	66	0	0	0	1	0	3	66				
DDX42	11325	broad.mit.edu	37	17	61897195	61897195	+	IGR	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		8	614	0	0	0	1	0	8	614				
HPS3	84343	broad.mit.edu	37	3	148872892	148872892	+	Splice_Site	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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	4	218	0	0	0	1	0	4	218				
PPP1R15A	23645	broad.mit.edu	37	19	49377656	49377656	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:49377656G>A	ENST00000200453.5	+	2	1435	c.1166G>A	c.(1165-1167)tGg>tAg	p.W389*		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	389	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TTGAAGTCCTGGGTCTATCAG	0.517																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(1165-1167)tGg>tAg		protein phosphatase 1, regulatory subunit 15A							108.0	107.0	108.0					19																	49377656		2203	4300	6503	SO:0001587	stop_gained	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377656G>A	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1166G>A	19.37:g.49377656G>A	ENSP00000200453:p.Trp389*						p.W389*	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	1435	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	389			4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.		B4DKQ3|Q6IA96|Q9NVU6	Nonsense_Mutation	SNP	ENST00000200453.5	37	c.1166G>A	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	33	5.210251	0.95069	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	.	.	.	4.9	2.61	0.31194	.	0.340803	0.21881	N	0.067722	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5217	5.4449	0.16529	0.1024:0.0:0.6995:0.1981	.	.	.	.	X	389;229;347	.	ENSP00000200453:W389X	W	+	2	0	PPP1R15A	54069468	1.000000	0.71417	0.995000	0.50966	0.093000	0.18481	3.834000	0.55798	1.201000	0.43203	0.637000	0.83480	TGG		0.517	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		7	804	0	0	0	1	0	7	804				
F5	2153	broad.mit.edu	37	1	169510502	169510502	+	Missense_Mutation	SNP	G	G	T	rs140018525		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:169510502G>T	ENST00000367797.3	-	13	4027	c.3826C>A	c.(3826-3828)Ctt>Att	p.L1276I	F5_ENST00000367796.3_Missense_Mutation_p.L1281I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1276	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				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)	TCTGGAGAAAGGGGCATCTGA	0.502													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20915	0.0		0.0	False		,,,				2504	0.0					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.(3841-3843)Ctt>Att		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						219.0	233.0	228.0					1																	169510502		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510502G>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3826C>A	1.37:g.169510502G>T	ENSP00000356771:p.Leu1276Ile					F5_ENST00000367797.3_Missense_Mutation_p.L1276I	p.L1281I			P12259	FA5_HUMAN			13	4042	-	all_hematologic(923;0.208)		1276			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3841C>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987829	0.35036	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.36520	1.25;1.25	4.13	-2.91	0.05631	.	.	.	.	.	T	0.13798	0.0334	M	0.62723	1.935	0.09310	N	0.999999	P	0.37061	0.58	B	0.35114	0.196	T	0.16778	-1.0391	8	0.22706	T	0.39	-2.9938	9.7911	0.40706	0.642:0.0:0.358:0.0	.	1276	P12259	FA5_HUMAN	I	1276;1281	ENSP00000356771:L1276I;ENSP00000356770:L1281I	ENSP00000356770:L1281I	L	-	1	0	F5	167777126	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.767000	0.04720	-0.412000	0.07519	-0.364000	0.07487	CTT		0.502	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		5	563	1	0	2.7689e-08	1	2.94195e-08	5	563				
IGSF10	285313	broad.mit.edu	37	3	151164958	151164958	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:151164958A>T	ENST00000282466.3	-	4	2810	c.2811T>A	c.(2809-2811)agT>agA	p.S937R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	937					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGTGGTGCTACTAAGCATTT	0.398																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(2809-2811)agT>agA		immunoglobulin superfamily, member 10							246.0	241.0	242.0					3																	151164958		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151164958A>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2811T>A	3.37:g.151164958A>T	ENSP00000282466:p.Ser937Arg						p.S937R	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2810	-			937					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.2811T>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	A	9.868	1.198106	0.22037	.	.	ENSG00000152580	ENST00000282466	T	0.70631	-0.5	5.41	-4.48	0.03515	.	1.340260	0.04851	N	0.442418	T	0.45498	0.1345	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34875	-0.9811	10	0.66056	D	0.02	.	3.6033	0.08032	0.2869:0.0947:0.452:0.1664	.	937	Q6WRI0	IGS10_HUMAN	R	937	ENSP00000282466:S937R	ENSP00000282466:S937R	S	-	3	2	IGSF10	152647648	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.823000	0.01710	-0.444000	0.07170	-0.353000	0.07706	AGT		0.398	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		8	1190	0	0	0	1	0	8	1190				
ALB	213	broad.mit.edu	37	4	74270115	74270115	+	Missense_Mutation	SNP	G	G	A	rs74821926		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:74270115G>A	ENST00000295897.4	+	1	160	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	ALB_ENST00000401494.3_Missense_Mutation_p.R24Q|ALB_ENST00000503124.1_5'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.R24Q|ALB_ENST00000415165.2_Missense_Mutation_p.R24Q	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTGTTTCGTCGAGATGCACGT	0.363																																						ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	GRCh37	CM870084|CM890279|CM910022	ALB	M	rs74821926	c.(70-72)cGa>cAa		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						123.0	117.0	119.0					4																	74270115		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74270115G>A	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.71G>A	4.37:g.74270115G>A	ENSP00000295897:p.Arg24Gln					ALB_ENST00000503124.1_5'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.R24Q|ALB_ENST00000401494.3_Missense_Mutation_p.R24Q|ALB_ENST00000415165.2_Missense_Mutation_p.R24Q	p.R24Q	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	160	+	Breast(15;0.00102)		24		R -> L (in Jaffna).|R -> P (in Takefu/Honolulu-1).|R -> Q (in Christchurch/Honolulu-2).	Albumin 1.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000295897.4	37	c.71G>A	CCDS3555.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848220	0.91277	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000415165;ENST00000329326;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.74315	-0.83;-0.83;-0.13;-0.83;0.22	5.55	5.55	0.83447	Serum albumin, N-terminal (2);	0.258639	0.29616	N	0.011657	D	0.84047	0.5386	L	0.58302	1.8	0.27001	N	0.964914	D;P;D;D	0.89917	0.995;0.789;1.0;1.0	P;B;D;D	0.69142	0.671;0.277;0.929;0.962	T	0.78112	-0.2331	10	0.87932	D	0	-14.4042	18.2357	0.89948	0.0:0.0:1.0:0.0	.	24;24;24;24	B7WNR0;C9JKR2;A6NBZ8;P02768	.;.;.;ALBU_HUMAN	Q	26;24;24;24;24;24;24	ENSP00000392541:R26Q;ENSP00000295897:R24Q;ENSP00000401820:R24Q;ENSP00000422784:R24Q;ENSP00000384695:R24Q	ENSP00000295897:R24Q	R	+	2	0	ALB	74488979	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.444000	0.66587	2.885000	0.99019	0.655000	0.94253	CGA		0.363	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477		74	110	0	0	0	1	0	74	110				
ETFDH	2110	broad.mit.edu	37	4	159618720	159618720	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:159618720A>T	ENST00000511912.1	+	8	1173	c.841A>T	c.(841-843)Att>Ttt	p.I281F	ETFDH_ENST00000307738.5_Missense_Mutation_p.I234F	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	281					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GTTATGGGTTATTGATGAAAA	0.353																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(841-843)Att>Ttt		electron-transferring-flavoprotein dehydrogenase							92.0	92.0	92.0					4																	159618720		2203	4300	6503	SO:0001583	missense	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159618720A>T	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.841A>T	4.37:g.159618720A>T	ENSP00000426638:p.Ile281Phe					ETFDH_ENST00000307738.5_Missense_Mutation_p.I234F	p.I281F	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	8	1173	+	all_hematologic(180;0.24)	Renal(120;0.0458)	281					B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	c.841A>T	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.347374	0.82022	.	.	ENSG00000171503	ENST00000511912;ENST00000507475;ENST00000307738	D;D;D	0.96651	-3.6;-4.08;-3.6	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	M	0.88979	2.995	0.80722	D	1	D;D;D	0.65815	0.995;0.995;0.986	D;D;D	0.63113	0.911;0.911;0.911	D	0.99097	1.0842	10	0.87932	D	0	-2.2955	15.6957	0.77494	1.0:0.0:0.0:0.0	.	234;220;281	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	F	281;116;234	ENSP00000426638:I281F;ENSP00000422735:I116F;ENSP00000303552:I234F	ENSP00000303552:I234F	I	+	1	0	ETFDH	159838170	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	3.880000	0.56145	2.104000	0.64026	0.533000	0.62120	ATT		0.353	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			6	186	0	0	0	1	0	6	186				
MON2	23041	broad.mit.edu	37	12	62928623	62928623	+	Splice_Site	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:62928623A>T	ENST00000393632.2	+	13	2024		c.e13-1		MON2_ENST00000552738.1_Splice_Site|MON2_ENST00000546600.1_Splice_Site|MON2_ENST00000393629.2_Splice_Site|MON2_ENST00000280379.6_Splice_Site|MON2_ENST00000393630.3_Splice_Site|MON2_ENST00000552115.1_Splice_Site	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)						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)		TTTTCCTTTAAGTTAGTAGGG	0.323																																						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.e13-1		MON2 homolog (S. cerevisiae)							124.0	115.0	118.0					12																	62928623		2203	4300	6503	SO:0001630	splice_region_variant	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62928623A>T		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.1634-1A>T	12.37:g.62928623A>T						MON2_ENST00000280379.6_Splice_Site|MON2_ENST00000552738.1_Splice_Site|MON2_ENST00000552115.1_Splice_Site|MON2_ENST00000393632.2_Splice_Site|MON2_ENST00000393629.2_Splice_Site|MON2_ENST00000546600.1_Splice_Site		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)	13	2024	+								A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Splice_Site	SNP	ENST00000393632.2	37		CCDS31849.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.563873	0.45694	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8645	0.70404	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MON2	61214890	1.000000	0.71417	0.962000	0.40283	0.519000	0.34347	5.890000	0.69774	1.971000	0.57363	0.454000	0.30748	.		0.323	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	Intron	4	196	0	0	0	1	0	4	196				
UBC	7316	broad.mit.edu	37	12	125397811	125397811	+	Silent	SNP	C	C	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:125397811C>A	ENST00000536769.1	-	1	2083	c.507G>T	c.(505-507)gtG>gtT	p.V169V	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Intron|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000339647.5_Silent_p.V169V			P0CG48	UBC_HUMAN	ubiquitin C	169	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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 epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CACTGGGCTCCACCTCGAGGG	0.522																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(505-507)gtG>gtT		ubiquitin C							142.0	138.0	139.0					12																	125397811		2203	4298	6501	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397811C>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.507G>T	12.37:g.125397811C>A						UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.V169V|UBC_ENST00000546120.1_Intron	p.V169V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2083	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		169			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.507G>T	CCDS9260.1																																																																																				0.522	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		4	410	1	0	0.0477658	1	0.0482821	4	410				
ZNFX1	57169	broad.mit.edu	37	20	47886683	47886683	+	Missense_Mutation	SNP	C	C	A	rs557874234		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr20:47886683C>A	ENST00000396105.1	-	3	1912	c.1666G>T	c.(1666-1668)Gac>Tac	p.D556Y	ZNFX1_ENST00000371752.1_Missense_Mutation_p.D556Y|ZNFX1_ENST00000371754.4_Missense_Mutation_p.D556Y	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	556							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGGTAAAGTCGTATCTGCCC	0.478																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(1666-1668)Gac>Tac		zinc finger, NFX1-type containing 1							93.0	98.0	96.0					20																	47886683		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47886683C>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1666G>T	20.37:g.47886683C>A	ENSP00000379412:p.Asp556Tyr					ZNFX1_ENST00000371752.1_Missense_Mutation_p.D556Y|ZNFX1_ENST00000371754.4_Missense_Mutation_p.D556Y	p.D556Y	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	1912	-			556					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.1666G>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730454	0.48939	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.89123	-2.29;-2.47;-2.47;-1.24;-1.91	5.71	5.71	0.89125	.	0.145674	0.64402	D	0.000015	D	0.93706	0.7989	M	0.80616	2.505	0.53005	D	0.999967	D	0.89917	1.0	D	0.75020	0.985	D	0.92665	0.6145	10	0.37606	T	0.19	-20.648	12.7714	0.57423	0.0:0.9209:0.0:0.0791	.	556	Q9P2E3	ZNFX1_HUMAN	Y	556;556;556;556;556;360	ENSP00000360819:D556Y;ENSP00000360817:D556Y;ENSP00000379412:D556Y;ENSP00000360809:D556Y;ENSP00000413800:D360Y	ENSP00000360809:D556Y	D	-	1	0	ZNFX1	47320090	0.997000	0.39634	0.991000	0.47740	0.988000	0.76386	3.315000	0.51951	2.686000	0.91538	0.655000	0.94253	GAC		0.478	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		15	266	1	0	2.23348e-06	1	2.3333e-06	15	266				
OR6Q1	219952	broad.mit.edu	37	11	57798663	57798663	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:57798663T>G	ENST00000302622.3	+	1	262	c.239T>G	c.(238-240)gTg>gGg	p.V80G	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TCTGTTACAGTGCCCAAGATG	0.473																																						ENST00000302622.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(238-240)gTg>gGg		olfactory receptor, family 6, subfamily Q, member 1							175.0	167.0	170.0					11																	57798663		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57798663T>G	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.239T>G	11.37:g.57798663T>G	ENSP00000307734:p.Val80Gly					OR9Q1_ENST00000335397.3_Intron	p.V80G	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN			1	262	+		Breast(21;0.0707)|all_epithelial(135;0.142)	80					B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.239T>G	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.103717	0.37145	.	.	ENSG00000172381	ENST00000302622	T	0.05139	3.49	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32918	N	0.005491	T	0.11793	0.0287	M	0.77616	2.38	0.50313	D	0.999862	B	0.28667	0.219	B	0.28709	0.093	T	0.01578	-1.1320	10	0.62326	D	0.03	.	13.3514	0.60603	0.0:0.0:0.0:1.0	.	80	Q8NGQ2	OR6Q1_HUMAN	G	80	ENSP00000307734:V80G	ENSP00000307734:V80G	V	+	2	0	OR6Q1	57555239	0.080000	0.21391	0.972000	0.41901	0.662000	0.39071	0.751000	0.26348	1.805000	0.52779	0.523000	0.50628	GTG		0.473	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		221	187	0	0	0	1	0	221	187				
PROX1	5629	broad.mit.edu	37	1	214170345	214170345	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:214170345G>A	ENST00000366958.4	+	2	1075	c.467G>A	c.(466-468)cGc>cAc	p.R156H	PROX1_ENST00000261454.4_Missense_Mutation_p.R156H|PROX1_ENST00000498508.2_Missense_Mutation_p.R156H|PROX1_ENST00000435016.1_Missense_Mutation_p.R156H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	156					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GATATGGATCGCTTATGTGAT	0.498																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(466-468)cGc>cAc		prospero homeobox 1							73.0	80.0	77.0					1																	214170345		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170345G>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.467G>A	1.37:g.214170345G>A	ENSP00000355925:p.Arg156His					PROX1_ENST00000498508.2_Missense_Mutation_p.R156H|PROX1_ENST00000435016.1_Missense_Mutation_p.R156H|PROX1_ENST00000261454.4_Missense_Mutation_p.R156H	p.R156H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1075	+			156					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.467G>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541196	0.65085	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.43809	0.1264	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.07195	-1.0785	10	0.36615	T	0.2	-3.8807	19.922	0.97089	0.0:0.0:1.0:0.0	.	156	Q92786	PROX1_HUMAN	H	156	ENSP00000419517:R156H;ENSP00000420283:R156H;ENSP00000355925:R156H;ENSP00000400694:R156H;ENSP00000261454:R156H	ENSP00000261454:R156H	R	+	2	0	PROX1	212236968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.009000	0.88606	2.780000	0.95670	0.655000	0.94253	CGC		0.498	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		27	177	0	0	0	1	0	27	177				
FABP1	2168	broad.mit.edu	37	2	88425818	88425818	+	Silent	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:88425818C>T	ENST00000295834.3	-	2	215	c.117G>A	c.(115-117)tcG>tcA	p.S39S	FABP1_ENST00000393750.3_Silent_p.S39S|FABP1_ENST00000495375.1_5'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	39					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						GCACGATTTCCGACACCCCCT	0.527																																						ENST00000393750.3																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						c.(115-117)tcG>tcA		fatty acid binding protein 1, liver							308.0	256.0	273.0					2																	88425818		2203	4300	6503	SO:0001819	synonymous_variant	2168				organ morphogenesis			g.chr2:88425818C>T	M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.117G>A	2.37:g.88425818C>T						FABP1_ENST00000295834.3_Silent_p.S39S|FABP1_ENST00000495375.1_5'UTR	p.S39S			P07148	FABPL_HUMAN			2	148	-			39						Silent	SNP	ENST00000295834.3	37	c.117G>A	CCDS2001.1																																																																																				0.527	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1	NM_001443		6	751	0	0	0	1	0	6	751				
ZNF626	199777	broad.mit.edu	37	19	20807460	20807460	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:20807460T>C	ENST00000601440.1	-	4	1369	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	408					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.Y408C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTTAGAGGAGTACTTAAAAGC	0.408																																						ENST00000601440.1																			1	Substitution - Missense(1)	p.Y408C(1)	lung(1)	breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1222-1224)tAc>tGc		zinc finger protein 626							59.0	62.0	61.0					19																	20807460		2156	4279	6435	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807460T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1223A>G	19.37:g.20807460T>C	ENSP00000469958:p.Tyr408Cys					CTC-513N18.7_ENST00000595094.1_lincRNA	p.Y408C	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1369	-			408					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1223A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.833357	0.00579	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	L	0.31845	0.965	0.20074	N	0.999937	B	0.06786	0.001	B	0.15052	0.012	T	0.20739	-1.0266	8	0.34782	T	0.22	.	5.5612	0.17144	0.0:0.0:0.0:1.0	.	408	Q68DY1	ZN626_HUMAN	C	408;332;408	.	ENSP00000445201:Y408C	Y	-	2	0	ZNF626	20599300	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-5.822000	0.00096	0.243000	0.21327	0.240000	0.17902	TAC		0.408	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		4	189	0	0	0	1	0	4	189				
OR5M10	390167	broad.mit.edu	37	11	56345006	56345006	+	Silent	SNP	A	A	G	rs145553253		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:56345006A>G	ENST00000526812.2	-	1	257	c.192T>C	c.(190-192)ggT>ggC	p.G64G		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	64						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)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AGGAGAGGTGACCAAGGAAGA	0.463													a|||	1	0.000199681	0.0008	0.0	5008	,	,		22256	0.0		0.0	False		,,,				2504	0.0					ENST00000526812.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						c.(190-192)ggT>ggC		olfactory receptor, family 5, subfamily M, member 10		G		2,3924		0,2,1961	173.0	164.0	167.0		192	-6.8	0.0	11	dbSNP_134	167	0,8312		0,0,4156	no	coding-synonymous	OR5M10	NM_001004741.1		0,2,6117	GG,GA,AA		0.0,0.0509,0.0163		64/316	56345006	2,12236	1963	4156	6119	SO:0001819	synonymous_variant	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56345006A>G	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.192T>C	11.37:g.56345006A>G							p.G64G	NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN			1	257	-			64					B9EIL9	Silent	SNP	ENST00000526812.2	37	c.192T>C	CCDS53630.1																																																																																				0.463	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		4	144	0	0	0	1	0	4	144				
SUOX	6821	broad.mit.edu	37	12	56398608	56398608	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:56398608G>C	ENST00000394109.3	+	3	2159	c.1435G>C	c.(1435-1437)Gaa>Caa	p.E479Q	IKZF4_ENST00000262032.5_5'Flank|SUOX_ENST00000394115.2_Missense_Mutation_p.E479Q|SUOX_ENST00000548274.1_Missense_Mutation_p.E479Q|SUOX_ENST00000266971.3_Missense_Mutation_p.E479Q|SUOX_ENST00000356124.4_Missense_Mutation_p.E479Q			P51687	SUOX_HUMAN	sulfite oxidase	479	Homodimerization. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GGATGGAGAGGAACAGCGCCC	0.587																																						ENST00000394109.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15						c.(1435-1437)Gaa>Caa		sulfite oxidase							191.0	170.0	177.0					12																	56398608		2203	4300	6503	SO:0001583	missense	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56398608G>C	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.1435G>C	12.37:g.56398608G>C	ENSP00000377668:p.Glu479Gln					SUOX_ENST00000356124.4_Missense_Mutation_p.E479Q|SUOX_ENST00000548274.1_Missense_Mutation_p.E479Q|SUOX_ENST00000394115.2_Missense_Mutation_p.E479Q|SUOX_ENST00000266971.3_Missense_Mutation_p.E479Q	p.E479Q			P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		3	2159	+			479			Molybdenum-pterin domain (By similarity).			Missense_Mutation	SNP	ENST00000394109.3	37	c.1435G>C	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	G	8.267	0.812567	0.16537	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	4.76	2.94	0.34122	Immunoglobulin E-set (1);Moybdenum cofactor oxidoreductase, dimerisation (2);	0.279645	0.32533	N	0.005965	T	0.81527	0.4841	M	0.72576	2.205	0.36258	D	0.854361	B	0.21821	0.061	B	0.22152	0.038	T	0.78863	-0.2036	10	0.49607	T	0.09	-24.5556	6.6168	0.22780	0.2885:0.0:0.7115:0.0	.	479	P51687	SUOX_HUMAN	Q	479	ENSP00000348440:E479Q;ENSP00000266971:E479Q;ENSP00000377674:E479Q;ENSP00000450245:E479Q;ENSP00000377668:E479Q	ENSP00000266971:E479Q	E	+	1	0	SUOX	54684875	1.000000	0.71417	0.994000	0.49952	0.645000	0.38454	1.954000	0.40362	0.745000	0.32763	0.467000	0.42956	GAA		0.587	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		3	144	0	0	0	1	0	3	144				
SLC30A9	10463	broad.mit.edu	37	4	42022431	42022431	+	Splice_Site	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:42022431A>T	ENST00000264451.7	+	4	514		c.e4-1			NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTTTGTTTAGTTAAAGCAG	0.348																																						ENST00000264451.6																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e4-1		solute carrier family 30 (zinc transporter), member 9							126.0	115.0	119.0					4																	42022431		2203	4299	6502	SO:0001630	splice_region_variant	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42022431A>T	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.335-1A>T	4.37:g.42022431A>T								NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN			4	514	+								Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Splice_Site	SNP	ENST00000264451.7	37		CCDS3465.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592832	0.86953	.	.	ENSG00000014824	ENST00000264451	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4116	0.83717	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC30A9	41717188	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.788000	0.91834	2.276000	0.75962	0.528000	0.53228	.		0.348	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3		Intron	9	179	0	0	0	1	0	9	179				
WIF1	11197	broad.mit.edu	37	12	65462686	65462686	+	Splice_Site	SNP	T	T	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:65462686T>A	ENST00000286574.4	-	4	772		c.e4-2			NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1						multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTTGAACAACTAAAAGAAAAA	0.373			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.e4-2		WNT inhibitory factor 1							77.0	70.0	72.0					12																	65462686		2203	4300	6503	SO:0001630	splice_region_variant	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65462686T>A	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.398-2A>T	12.37:g.65462686T>A								NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	4	772	-								Q6UXI1|Q8WVG4	Splice_Site	SNP	ENST00000286574.4	37		CCDS8971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.3|20.3	3.968138|3.968138	0.74131|0.74131	.|.	.|.	ENSG00000156076|ENSG00000156076	ENST00000286574;ENST00000546001|ENST00000535025	.|.	.|.	.|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71576	.|0.3356	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71122	.|-0.4684	.|4	.|.	.|.	.|.	.|.	15.5624|15.5624	0.76258|0.76258	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|V	-1|18	.|.	.|.	.|E	-|-	.|2	.|0	WIF1|WIF1	63748953|63748953	1.000000|1.000000	0.71417|0.71417	0.880000|0.880000	0.34516|0.34516	0.896000|0.896000	0.52359|0.52359	6.654000|6.654000	0.74387|0.74387	2.142000|2.142000	0.66516|0.66516	0.533000|0.533000	0.62120|0.62120	.|GAG		0.373	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2		Intron	5	110	0	0	0	1	0	5	110				
GTF3C2	2976	broad.mit.edu	37	2	27559290	27559290	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:27559290A>G	ENST00000359541.2	-	8	1559	c.1130T>C	c.(1129-1131)tTt>tCt	p.F377S	AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000585645.1_RNA|AC109828.1_ENST00000608473.1_RNA|AC109828.1_ENST00000416453.2_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000592265.1_RNA|AC109828.1_ENST00000589232.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.F377S|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000590754.1_RNA|AC109828.1_ENST00000585326.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	377					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATCGAGCTAAATCTAGAGAA	0.532																																						ENST00000359541.2																			0				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38						c.(1129-1131)tTt>tCt		general transcription factor IIIC, polypeptide 2, beta 110kDa							30.0	33.0	32.0					2																	27559290		2202	4300	6502	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27559290A>G	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1130T>C	2.37:g.27559290A>G	ENSP00000352536:p.Phe377Ser					AC109828.1_ENST00000592265.1_RNA|AC109828.1_ENST00000416453.2_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.F377S|AC109828.1_ENST00000585326.1_RNA	p.F377S			Q8WUA4	TF3C2_HUMAN			8	1559	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		377					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.1130T>C	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.611318	0.66558	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	T;T	0.79352	-1.26;-1.26	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.81884	0.4917	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.81865	-0.0736	10	0.42905	T	0.14	-16.0942	13.9181	0.63914	1.0:0.0:0.0:0.0	.	377;377;377	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	S	377	ENSP00000352536:F377S;ENSP00000264720:F377S	ENSP00000264720:F377S	F	-	2	0	GTF3C2	27412794	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	7.940000	0.87693	2.186000	0.69663	0.455000	0.32223	TTT		0.532	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			26	67	0	0	0	1	0	26	67				
RPS6KA5	9252	broad.mit.edu	37	14	91369271	91369271	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:91369271G>A	ENST00000261991.3	-	9	1173	c.1000C>T	c.(1000-1002)Cca>Tca	p.P334S	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.P255S|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.P334S	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	334	AGC-kinase C-terminal.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GGCTTAAATGGTGCAGGCACT	0.393																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1000-1002)Cca>Tca		ribosomal protein S6 kinase, 90kDa, polypeptide 5							109.0	98.0	101.0					14																	91369271		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91369271G>A	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1000C>T	14.37:g.91369271G>A	ENSP00000261991:p.Pro334Ser					RPS6KA5_ENST00000418736.2_Missense_Mutation_p.P334S|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.P255S	p.P334S	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	9	1173	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	334			AGC-kinase C-terminal.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.1000C>T	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829932	0.91036	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.58060	0.36;0.36;0.36	5.6	5.6	0.85130	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.82376	-0.0488	10	0.87932	D	0	.	19.612	0.95610	0.0:0.0:1.0:0.0	.	334;334	O75582-2;O75582	.;KS6A5_HUMAN	S	334;255;334	ENSP00000261991:P334S;ENSP00000442803:P255S;ENSP00000402787:P334S	ENSP00000261991:P334S	P	-	1	0	RPS6KA5	90439024	1.000000	0.71417	0.558000	0.28319	0.859000	0.49053	9.837000	0.99465	2.632000	0.89209	0.563000	0.77884	CCA		0.393	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		4	176	0	0	0	1	0	4	176				
PPIP5K2	23262	broad.mit.edu	37	5	102530659	102530659	+	Silent	SNP	T	T	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:102530659T>C	ENST00000358359.3	+	30	4061	c.3552T>C	c.(3550-3552)taT>taC	p.Y1184Y	PPIP5K2_ENST00000321521.9_Silent_p.Y1163Y|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Silent_p.Y1163Y	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1184					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TAAATACGTATACACCTGCAA	0.373																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(3487-3489)taT>taC		diphosphoinositol pentakisphosphate kinase 2							107.0	89.0	95.0					5																	102530659		2203	4300	6503	SO:0001819	synonymous_variant	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102530659T>C	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3552T>C	5.37:g.102530659T>C						PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Silent_p.Y1184Y|PPIP5K2_ENST00000414217.1_Silent_p.Y1163Y	p.Y1163Y			O43314	VIP2_HUMAN			29	4062	+			1184					A1NI53|A6NGS8|Q8TB50	Silent	SNP	ENST00000358359.3	37	c.3489T>C																																																																																					0.373	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		3	81	0	0	0	1	0	3	81				
OR4K2	390431	broad.mit.edu	37	14	20345068	20345068	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:20345068A>T	ENST00000298642.2	+	1	678	c.642A>T	c.(640-642)ttA>ttT	p.L214F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	214						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(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTATTGTTTTATTTAATTCAT	0.388																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(640-642)ttA>ttT		olfactory receptor, family 4, subfamily K, member 2							260.0	266.0	264.0					14																	20345068		2203	4299	6502	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345068A>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.642A>T	14.37:g.20345068A>T	ENSP00000298642:p.Leu214Phe						p.L214F	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	678	+	all_cancers(95;0.00108)		214					B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.642A>T	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	11.62	1.691484	0.30052	.	.	ENSG00000165762	ENST00000298642	T	0.00188	8.59	5.0	1.28	0.21552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38164	N	0.001785	T	0.00468	0.0015	M	0.82517	2.595	0.29981	N	0.817682	D	0.89917	1.0	D	0.97110	1.0	T	0.33266	-0.9875	10	0.87932	D	0	.	7.2383	0.26082	0.783:0.0:0.217:0.0	.	214	Q8NGD2	OR4K2_HUMAN	F	214	ENSP00000298642:L214F	ENSP00000298642:L214F	L	+	3	2	OR4K2	19414908	0.000000	0.05858	0.977000	0.42913	0.136000	0.21042	-1.902000	0.01596	0.061000	0.16311	0.383000	0.25322	TTA		0.388	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			5	453	0	0	0	1	0	5	453				
ELFN2	114794	broad.mit.edu	37	22	37770867	37770867	+	Silent	SNP	G	G	A	rs149957183		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr22:37770867G>A	ENST00000402918.2	-	3	1493	c.708C>T	c.(706-708)aaC>aaT	p.N236N	RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	236	LRRCT.				negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CGGTGATGGCGTTGAGGCTGT	0.677																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(706-708)aaC>aaT		extracellular leucine-rich repeat and fibronectin type III domain containing 2		G		0,4406		0,0,2203	33.0	43.0	40.0		708	-2.3	1.0	22	dbSNP_134	40	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ELFN2	NM_052906.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		236/821	37770867	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37770867G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.708C>T	22.37:g.37770867G>A						RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Silent_p.N236N	p.N236N	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	1493	-	Melanoma(58;0.0574)		236			LRRCT.		Q96PY3	Silent	SNP	ENST00000402918.2	37	c.708C>T	CCDS33642.1																																																																																				0.677	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		7	4	0	0	0	1	0	7	4				
LYST	1130	broad.mit.edu	37	1	235866217	235866217	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:235866217T>C	ENST00000389794.3	-	45	10378	c.10204A>G	c.(10204-10206)Acc>Gcc	p.T3402A	LYST_ENST00000389793.2_Missense_Mutation_p.T3402A|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3402	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTATCATGGTTTCTAGCGCT	0.473																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(10204-10206)Acc>Gcc		lysosomal trafficking regulator							152.0	155.0	154.0					1																	235866217		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235866217T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10204A>G	1.37:g.235866217T>C	ENSP00000374444:p.Thr3402Ala					LYST_ENST00000389793.2_Missense_Mutation_p.T3402A|LYST_ENST00000473037.1_5'UTR	p.T3402A			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		45	10378	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3402			BEACH.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.10204A>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.655000	0.67472	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.79454	-1.27;-1.27	5.52	5.52	0.82312	BEACH domain (4);	0.000000	0.85682	D	0.000000	T	0.77585	0.4152	N	0.13003	0.285	0.80722	D	1	D	0.67145	0.996	D	0.64776	0.929	T	0.79235	-0.1887	10	0.39692	T	0.17	.	15.6493	0.77078	0.0:0.0:0.0:1.0	.	3402	Q99698	LYST_HUMAN	A	3402	ENSP00000374444:T3402A;ENSP00000374443:T3402A	ENSP00000374443:T3402A	T	-	1	0	LYST	233932840	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	7.698000	0.84413	2.109000	0.64355	0.402000	0.26972	ACC		0.473	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			3	249	0	0	0	1	0	3	249				
PREP	5550	broad.mit.edu	37	6	105800954	105800954	+	Splice_Site	SNP	T	T	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:105800954T>A	ENST00000369110.3	-	7	910		c.e7-2			NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ATCAGATAACTAAAAAAGAAA	0.343																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.e7-2		prolyl endopeptidase	Oxytocin(DB00107)						79.0	86.0	84.0					6																	105800954		2203	4300	6503	SO:0001630	splice_region_variant	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105800954T>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.718-2A>T	6.37:g.105800954T>A								NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN			7	910	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)						Q8N6D4	Splice_Site	SNP	ENST00000369110.3	37		CCDS5053.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404919	0.62288	.	.	ENSG00000085377	ENST00000369110	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9901	0.71381	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PREP	105907647	1.000000	0.71417	0.960000	0.40013	0.657000	0.38888	4.794000	0.62482	2.240000	0.73641	0.533000	0.62120	.		0.343	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1		Intron	6	106	0	0	0	1	0	6	106				
FNIP1	96459	broad.mit.edu	37	5	131007746	131007746	+	Silent	SNP	A	A	T	rs75277328	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:131007746A>T	ENST00000510461.1	-	14	2486	c.2391T>A	c.(2389-2391)acT>acA	p.T797T	FNIP1_ENST00000307954.8_Silent_p.T752T|FNIP1_ENST00000307968.7_Silent_p.T769T|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	797					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTGTTTGTTTAGTTTCTTGAT	0.443																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2305-2307)acT>acA		folliculin interacting protein 1							216.0	199.0	204.0					5																	131007746		2203	4300	6503	SO:0001819	synonymous_variant	96459							g.chr5:131007746A>T	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.2391T>A	5.37:g.131007746A>T						FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.T752T|FNIP1_ENST00000510461.1_Silent_p.T797T	p.T769T	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	13	2306	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Silent	SNP	ENST00000510461.1	37	c.2307T>A	CCDS34227.1																																																																																				0.443	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		7	580	0	0	0	1	0	7	580				
CDH2	1000	broad.mit.edu	37	18	25565566	25565566	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr18:25565566G>C	ENST00000269141.3	-	12	2324	c.1901C>G	c.(1900-1902)gCt>gGt	p.A634G	CDH2_ENST00000399380.3_Missense_Mutation_p.A603G	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	634	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAATGGTCCAGCATTTGGATC	0.383																																						ENST00000269141.3																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(1900-1902)gCt>gGt		cadherin 2, type 1, N-cadherin (neuronal)							89.0	88.0	88.0					18																	25565566		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25565566G>C	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1901C>G	18.37:g.25565566G>C	ENSP00000269141:p.Ala634Gly					CDH2_ENST00000399380.3_Missense_Mutation_p.A603G	p.A634G	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			12	2324	-			634			Cadherin 5.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1901C>G	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115817	0.77323	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.59364	0.27;0.27	5.96	5.96	0.96718	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.53270	0.1786	N	0.21583	0.68	0.80722	D	1	P;P	0.45768	0.573;0.866	P;P	0.48571	0.582;0.549	T	0.39354	-0.9618	10	0.12766	T	0.61	.	20.394	0.98981	0.0:0.0:1.0:0.0	.	603;634	A8MWK3;P19022	.;CADH2_HUMAN	G	634;603	ENSP00000269141:A634G;ENSP00000382312:A603G	ENSP00000269141:A634G	A	-	2	0	CDH2	23819564	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.414000	0.97362	2.830000	0.97506	0.585000	0.79938	GCT		0.383	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		4	230	0	0	0	1	0	4	230				
CEP164	22897	broad.mit.edu	37	11	117261597	117261597	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:117261597G>A	ENST00000278935.3	+	16	2186	c.2039G>A	c.(2038-2040)aGc>aAc	p.S680N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	680	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GTCCAGTCCAGCACACAAGCA	0.602																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(2038-2040)aGc>aAc		centrosomal protein 164kDa							62.0	63.0	62.0					11																	117261597		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117261597G>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2039G>A	11.37:g.117261597G>A	ENSP00000278935:p.Ser680Asn					CEP164_ENST00000533706.1_3'UTR	p.S680N	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	16	2186	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	680			Glu-rich.		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.2039G>A	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276106	0.40294	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.43294	0.95	5.24	3.32	0.38043	.	0.340941	0.25405	N	0.030908	T	0.50394	0.1613	L	0.53249	1.67	0.09310	N	1	B;D;B;B	0.61080	0.022;0.989;0.037;0.037	B;D;B;B	0.72982	0.005;0.979;0.012;0.012	T	0.32534	-0.9903	10	0.22109	T	0.4	-0.0011	5.6412	0.17565	0.1842:0.1683:0.6475:0.0	.	654;454;680;683	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	N	680;654;561	ENSP00000278935:S680N	ENSP00000278935:S680N	S	+	2	0	CEP164	116766807	0.017000	0.18338	0.074000	0.20217	0.114000	0.19823	1.657000	0.37366	1.175000	0.42826	0.591000	0.81541	AGC		0.602	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		4	85	0	0	0	1	0	4	85				
FAM65A	79567	broad.mit.edu	37	16	67576514	67576514	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:67576514A>G	ENST00000379312.3	+	13	1958	c.1837A>G	c.(1837-1839)Acc>Gcc	p.T613A	CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.T609A|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.T629A|FAM65A_ENST00000428437.2_Missense_Mutation_p.T623A|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.T629A	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	613	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCCAAGCCCTACCCATACCAC	0.542																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(1885-1887)Acc>Gcc		family with sequence similarity 65, member A							432.0	402.0	412.0					16																	67576514		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67576514A>G	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1837A>G	16.37:g.67576514A>G	ENSP00000368614:p.Thr613Ala					CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.T623A|FAM65A_ENST00000379312.3_Missense_Mutation_p.T613A|FAM65A_ENST00000042381.4_Missense_Mutation_p.T609A|FAM65A_ENST00000422602.2_Missense_Mutation_p.T629A	p.T629A			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	14	2105	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	613			Pro-rich.		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.1885A>G	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	11.59|11.59	1.683901|1.683901	0.29872|0.29872	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.16743|.	2.32;2.32;2.32|.	4.72|4.72	0.699|0.699	0.18093|0.18093	.|.	0.737333|.	0.13664|.	N|.	0.371414|.	T|T	0.16896|0.16896	0.0406|0.0406	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.04013|.	0.0;0.0;0.0;0.001|.	T|T	0.29058|0.29058	-1.0024|-1.0024	10|5	0.34782|.	T|.	0.22|.	-2.8541|-2.8541	7.4237|7.4237	0.27085|0.27085	0.6584:0.0:0.3416:0.0|0.6584:0.0:0.3416:0.0	.|.	623;629;613;629|.	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9|.	.;.;FA65A_HUMAN;.|.	A|C	613;609;629;623|603	ENSP00000368614:T613A;ENSP00000042381:T609A;ENSP00000400099:T629A|.	ENSP00000042381:T609A|.	T|Y	+|+	1|2	0|0	FAM65A|FAM65A	66134015|66134015	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.094000|0.094000	0.18550|0.18550	-0.846000|-0.846000	0.04336|0.04336	0.270000|0.270000	0.21984|0.21984	-0.677000|-0.677000	0.03784|0.03784	ACC|TAC		0.542	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		5	423	0	0	0	1	0	5	423				
F2	2147	broad.mit.edu	37	11	46760614	46760614	+	Silent	SNP	A	A	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:46760614A>G	ENST00000311907.5	+	13	1727	c.1671A>G	c.(1669-1671)gaA>gaG	p.E557E	F2_ENST00000530231.1_Silent_p.E518E	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	557	High affinity receptor-binding region which is also known as the TP508 peptide.|Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)	p.E557E(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	AGCCTGATGAAGGGAAACGAG	0.552																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	ENST00000311907.5																			1	Substitution - coding silent(1)	p.E557E(1)	lung(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(1669-1671)gaA>gaG		coagulation factor II (thrombin)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						121.0	113.0	115.0					11																	46760614		2201	4299	6500	SO:0001819	synonymous_variant	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46760614A>G	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1671A>G	11.37:g.46760614A>G						F2_ENST00000530231.1_Silent_p.E518E	p.E557E	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	13	1727	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	557			High affinity receptor-binding region which is also known as the TP508 peptide.|Peptidase S1.		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Silent	SNP	ENST00000311907.5	37	c.1671A>G	CCDS31476.1																																																																																				0.552	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			3	207	0	0	0	1	0	3	207				
FBXO4	26272	broad.mit.edu	37	5	41934293	41934293	+	Nonsense_Mutation	SNP	C	C	T	rs559988406		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:41934293C>T	ENST00000281623.3	+	5	837	c.781C>T	c.(781-783)Cga>Tga	p.R261*	FBXO4_ENST00000509134.1_Nonsense_Mutation_p.R261*|FBXO4_ENST00000296812.2_Nonsense_Mutation_p.R261*	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	261					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				GATGTTCAGTCGACACAATGA	0.368																																						ENST00000296812.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27						c.(781-783)Cga>Tga		F-box protein 4							134.0	125.0	128.0					5																	41934293		2203	4300	6503	SO:0001587	stop_gained	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41934293C>T	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.781C>T	5.37:g.41934293C>T	ENSP00000281623:p.Arg261*					FBXO4_ENST00000509134.1_Nonsense_Mutation_p.R261*|FBXO4_ENST00000281623.3_Nonsense_Mutation_p.R261*	p.R261*	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN			5	837	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	261					Q68CU8|Q86VT8|Q9UK98	Nonsense_Mutation	SNP	ENST00000281623.3	37	c.781C>T	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481080	0.63849	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	.	.	.	5.78	-2.09	0.07232	.	1.119580	0.06563	N	0.747125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-0.557	4.5359	0.12028	0.1949:0.2759:0.412:0.1172	.	.	.	.	X	261	.	ENSP00000281623:R261X	R	+	1	2	FBXO4	41970050	0.000000	0.05858	0.960000	0.40013	0.945000	0.59286	-0.068000	0.11561	-0.400000	0.07656	0.655000	0.94253	CGA		0.368	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			4	216	0	0	0	1	0	4	216				
CTSO	1519	broad.mit.edu	37	4	156850793	156850793	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:156850793C>T	ENST00000433477.3	-	6	808	c.739G>A	c.(739-741)Gca>Aca	p.A247T		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	251					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CAGCTCACTGCATCTACTATG	0.403																																					Pancreas(148;2303 2598 8989 35298)	ENST00000433477.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16						c.(739-741)Gca>Aca		cathepsin O							114.0	107.0	109.0					4																	156850793		2203	4300	6503	SO:0001583	missense	1519				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr4:156850793C>T	X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.739G>A	4.37:g.156850793C>T	ENSP00000414904:p.Ala247Thr						p.A247T	NM_001334.2	NP_001325.1	P43234	CATO_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)	6	808	-	all_hematologic(180;0.24)	Renal(120;0.0458)	247					Q6FHS6	Missense_Mutation	SNP	ENST00000433477.3	37	c.739G>A	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	C	36	5.610452	0.96637	.	.	ENSG00000256043	ENST00000433477	T	0.35973	1.28	5.68	5.68	0.88126	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72947	-0.4137	10	0.87932	D	0	.	19.7747	0.96386	0.0:1.0:0.0:0.0	.	247	P43234	CATO_HUMAN	T	247	ENSP00000414904:A247T	ENSP00000281527:A247T	A	-	1	0	CTSO	157070243	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.424000	0.80242	2.679000	0.91253	0.655000	0.94253	GCA		0.403	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334		4	233	0	0	0	1	0	4	233				
DCAF17	80067	broad.mit.edu	37	2	172314880	172314880	+	Splice_Site	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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_ENST00000539783.1_Splice_Site|DCAF17_ENST00000468592.1_Intron		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	4	149	0	0	0	1	0	4	149				
ZPR1	8882	broad.mit.edu	37	11	116652913	116652913	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:116652913C>G	ENST00000227322.3	-	12	1199	c.1140G>C	c.(1138-1140)caG>caC	p.Q380H		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		380					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		GTCTCTCCGTCTGTCCAGGAT	0.468																																						ENST00000227322.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1138-1140)caG>caC		zinc finger protein 259							119.0	99.0	105.0					11																	116652913		2201	4296	6497	SO:0001583	missense	8882				cell proliferation|signal transduction	cytoplasm|nucleolus		g.chr11:116652913C>G																												ENST00000227322.3:c.1140G>C	11.37:g.116652913C>G	ENSP00000227322:p.Gln380His						p.Q380H	NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)	12	1199	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	380					Q2TAA0	Missense_Mutation	SNP	ENST00000227322.3	37	c.1140G>C	CCDS8375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.482|8.482	0.860067|0.860067	0.17178|0.17178	.|.	.|.	ENSG00000109917|ENSG00000109917	ENST00000429220|ENST00000227322	.|T	.|0.45668	.|0.89	6.02|6.02	4.1|4.1	0.47936|0.47936	.|Zinc finger, ZPR1-type (3);	.|0.256435	.|0.41500	.|N	.|0.000864	T|T	0.22859|0.22859	0.0552|0.0552	N|N	0.12569|0.12569	0.235|0.235	0.21445|0.21445	N|N	0.999684|0.999684	.|B	.|0.11235	.|0.004	.|B	.|0.09377	.|0.004	T|T	0.10989|0.10989	-1.0606|-1.0606	5|10	.|0.45353	.|T	.|0.12	-5.2987|-5.2987	7.3742|7.3742	0.26818|0.26818	0.0:0.4951:0.3433:0.1616|0.0:0.4951:0.3433:0.1616	.|.	.|380	.|O75312	.|ZPR1_HUMAN	H|H	307|380	.|ENSP00000227322:Q380H	.|ENSP00000227322:Q380H	D|Q	-|-	1|3	0|2	ZNF259|ZNF259	116158123|116158123	0.409000|0.409000	0.25368|0.25368	0.736000|0.736000	0.30914|0.30914	0.217000|0.217000	0.24651|0.24651	1.321000|1.321000	0.33678|0.33678	1.550000|1.550000	0.49438|0.49438	0.655000|0.655000	0.94253|0.94253	GAC|CAG		0.468	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2			4	75	0	0	0	1	0	4	75				
MUC16	94025	broad.mit.edu	37	19	9009704	9009704	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:9009704G>T	ENST00000397910.4	-	39	39225	c.39022C>A	c.(39022-39024)Cct>Act	p.P13008T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13010					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						ACCAGGAGAGGAACAGCTGCT	0.448																																						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.(39022-39024)Cct>Act		mucin 16, cell surface associated							154.0	124.0	133.0					19																	9009704		1952	4132	6084	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9009704G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39022C>A	19.37:g.9009704G>T	ENSP00000381008:p.Pro13008Thr						p.P13008T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			39	39225	-			13010					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39022C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.45	1.353356	0.24512	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.34275	1.37	2.91	1.68	0.24146	.	.	.	.	.	T	0.58878	0.2153	M	0.87547	2.89	.	.	.	D	0.76494	0.999	D	0.87578	0.998	T	0.66854	-0.5818	8	0.87932	D	0	-0.5502	6.225	0.20703	0.0:0.0:0.7017:0.2983	.	13008	B5ME49	.	T	13008;161	ENSP00000381008:P13008T	ENSP00000381008:P13008T	P	-	1	0	MUC16	8870704	0.019000	0.18553	0.008000	0.14137	0.019000	0.09904	0.512000	0.22755	1.572000	0.49736	0.305000	0.20034	CCT		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	1556	1	0	2.17888e-05	1	2.25111e-05	10	1556				
C2orf44	80304	broad.mit.edu	37	2	24260997	24260997	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:24260997A>T	ENST00000295148.4	-	2	1425	c.1368T>A	c.(1366-1368)aaT>aaA	p.N456K	C2orf44_ENST00000406895.3_Missense_Mutation_p.N456K	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	456									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATTTGCTTTATTTAACGGAG	0.363			T	ALK	NSCLC																																	ENST00000295148.4				Dom	yes		2	2p23.3	80304	T	chromosome 2 open reading frame 44			E	ALK		NSCLC	C2orf44/ALK(2)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24						c.(1366-1368)aaT>aaA		chromosome 2 open reading frame 44							93.0	100.0	98.0					2																	24260997		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24260997A>T	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1368T>A	2.37:g.24260997A>T	ENSP00000295148:p.Asn456Lys					C2orf44_ENST00000406895.3_Missense_Mutation_p.N456K	p.N456K	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN			2	1425	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		456					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.1368T>A	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.282838	0.59867	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	T;T	0.44083	0.93;0.93	5.38	-2.98	0.05513	.	0.968998	0.08593	N	0.922651	T	0.38453	0.1041	M	0.69823	2.125	0.09310	N	1	P;P	0.42296	0.775;0.775	B;B	0.39258	0.295;0.295	T	0.41070	-0.9529	10	0.59425	D	0.04	-4.4749	7.6749	0.28480	0.3492:0.2314:0.4193:0.0	.	456;456	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	K	456	ENSP00000295148:N456K;ENSP00000385816:N456K	ENSP00000295148:N456K	N	-	3	2	C2orf44	24114501	0.002000	0.14202	0.014000	0.15608	0.597000	0.36814	0.241000	0.18065	-0.395000	0.07715	0.533000	0.62120	AAT		0.363	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		5	172	0	0	0	1	0	5	172				
SNHG14	104472715	broad.mit.edu	37	15	25310233	25310233	+	RNA	SNP	A	A	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:25310233A>G	ENST00000549804.2	+	0	538				SNORD116-5_ENST00000384462.1_RNA|SNORD116-7_ENST00000384404.1_RNA|SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		AAATGAGTGAAAACTCATACC	0.453																																						ENST00000549804.2																			0																				213.0	189.0	196.0					15																	25310233		876	1990	2866			104472715							g.chr15:25310233A>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25310233A>G						SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA								0	538	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.453	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			5	516	0	0	0	1	0	5	516				
RAVER2	55225	broad.mit.edu	37	1	65243530	65243530	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:65243530C>T	ENST00000294428.3	+	3	619	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	RAVER2_ENST00000430964.2_5'Flank|RAVER2_ENST00000371072.4_Missense_Mutation_p.H181Y			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	181	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AGTTACTGGCCATTCCAAAGG	0.413																																						ENST00000294428.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(541-543)Cat>Tat		ribonucleoprotein, PTB-binding 2							243.0	219.0	226.0					1																	65243530		1894	4115	6009	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65243530C>T	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.541C>T	1.37:g.65243530C>T	ENSP00000294428:p.His181Tyr					RAVER2_ENST00000371072.4_Missense_Mutation_p.H181Y	p.H181Y			Q9HCJ3	RAVR2_HUMAN			3	619	+			181			RRM 2.		Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.541C>T		.	.	.	.	.	.	.	.	.	.	C	14.91	2.677497	0.47886	.	.	ENSG00000162437	ENST00000371072;ENST00000294428	T;T	0.15952	2.38;2.38	5.34	5.34	0.76211	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.110279	0.64402	D	0.000009	T	0.07818	0.0196	L	0.39566	1.225	0.80722	D	1	B;B	0.19331	0.035;0.01	B;B	0.17433	0.018;0.011	T	0.07009	-1.0795	10	0.37606	T	0.19	-14.781	13.3592	0.60646	0.0:0.924:0.0:0.076	.	181;181	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	Y	181	ENSP00000360112:H181Y;ENSP00000294428:H181Y	ENSP00000294428:H181Y	H	+	1	0	RAVER2	65016118	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.670000	0.61583	2.481000	0.83766	0.655000	0.94253	CAT		0.413	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		8	1084	0	0	0	1	0	8	1084				
A4GNT	51146	broad.mit.edu	37	3	137849767	137849767	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:137849767A>G	ENST00000236709.3	-	2	533	c.332T>C	c.(331-333)aTa>aCa	p.I111T		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	111					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AACGTTGTCTATTGCTGACAG	0.423																																						ENST00000236709.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						c.(331-333)aTa>aCa		alpha-1,4-N-acetylglucosaminyltransferase							101.0	103.0	103.0					3																	137849767		2203	4300	6503	SO:0001583	missense	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137849767A>G	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.332T>C	3.37:g.137849767A>G	ENSP00000236709:p.Ile111Thr						p.I111T	NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN			2	533	-			111					Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	c.332T>C	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.046377	0.55110	.	.	ENSG00000118017	ENST00000236709	T	0.81163	-1.46	5.26	5.26	0.73747	Glycosyltransferase, DXD sugar-binding motif (1);	0.339733	0.24912	N	0.034607	T	0.77123	0.4084	L	0.46741	1.465	0.38431	D	0.946435	P	0.40731	0.728	B	0.40506	0.331	T	0.79754	-0.1670	10	0.44086	T	0.13	-9.9276	15.1912	0.73047	1.0:0.0:0.0:0.0	.	111	Q9UNA3	A4GCT_HUMAN	T	111	ENSP00000236709:I111T	ENSP00000236709:I111T	I	-	2	0	A4GNT	139332457	0.853000	0.29707	0.925000	0.36789	0.921000	0.55340	6.414000	0.73318	1.977000	0.57605	0.454000	0.30748	ATA		0.423	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		3	300	0	0	0	1	0	3	300				
ARAP2	116984	broad.mit.edu	37	4	36162175	36162175	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:36162175A>T	ENST00000303965.4	-	13	2837	c.2348T>A	c.(2347-2349)gTa>gAa	p.V783E		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	783	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCTCTTTTCTACTGGTGAGTC	0.308																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(2347-2349)gTa>gAa		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							42.0	42.0	42.0					4																	36162175		2200	4288	6488	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36162175A>T	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.2348T>A	4.37:g.36162175A>T	ENSP00000302895:p.Val783Glu						p.V783E	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			13	2837	-			783			Arf-GAP.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.2348T>A	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457254	0.63401	.	.	ENSG00000047365	ENST00000303965	T	0.39229	1.09	5.67	4.47	0.54385	.	0.140006	0.48767	D	0.000169	T	0.43211	0.1237	L	0.33792	1.035	0.32041	N	0.598212	P;D	0.64830	0.873;0.994	P;P	0.59357	0.484;0.856	T	0.52555	-0.8560	10	0.46703	T	0.11	.	5.1454	0.14981	0.7367:0.0:0.1061:0.1572	.	713;783	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	E	783	ENSP00000302895:V783E	ENSP00000302895:V783E	V	-	2	0	ARAP2	35838570	0.889000	0.30405	0.999000	0.59377	0.999000	0.98932	3.678000	0.54627	0.950000	0.37743	0.533000	0.62120	GTA		0.308	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		4	40	0	0	0	1	0	4	40				
VPS13A	23230	broad.mit.edu	37	9	79954603	79954603	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:79954603A>T	ENST00000360280.3	+	48	6810	c.6550A>T	c.(6550-6552)Act>Tct	p.T2184S	VPS13A_ENST00000376636.3_Missense_Mutation_p.T2145S|VPS13A_ENST00000357409.5_Missense_Mutation_p.T2184S|VPS13A_ENST00000376634.4_Missense_Mutation_p.T2184S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2184					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGTCAGTTTTACTTGTGTTAC	0.343																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(6550-6552)Act>Tct		vacuolar protein sorting 13 homolog A (S. cerevisiae)							117.0	104.0	109.0					9																	79954603		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79954603A>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6550A>T	9.37:g.79954603A>T	ENSP00000353422:p.Thr2184Ser					VPS13A_ENST00000376634.4_Missense_Mutation_p.T2184S|VPS13A_ENST00000376636.3_Missense_Mutation_p.T2145S|VPS13A_ENST00000357409.5_Missense_Mutation_p.T2184S	p.T2184S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			48	6810	+			2184					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.6550A>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	2.112	-0.403472	0.04832	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.48522	0.98;0.81;0.89;0.96	5.96	4.81	0.61882	.	0.377447	0.28453	N	0.015293	T	0.34106	0.0886	L	0.57536	1.79	0.23669	N	0.997152	B;B;B;B	0.15141	0.006;0.007;0.012;0.012	B;B;B;B	0.21708	0.036;0.012;0.027;0.027	T	0.41840	-0.9486	10	0.05833	T	0.94	.	2.6677	0.05057	0.5334:0.2217:0.0711:0.1739	.	2145;2184;2184;2184	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	S	2184;2145;2184;2184	ENSP00000365821:T2184S;ENSP00000365823:T2145S;ENSP00000353422:T2184S;ENSP00000349985:T2184S	ENSP00000349985:T2184S	T	+	1	0	VPS13A	79144423	0.681000	0.27614	0.974000	0.42286	0.626000	0.37791	1.475000	0.35409	2.283000	0.76528	0.477000	0.44152	ACT		0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		5	256	0	0	0	1	0	5	256				
TMEM132D	121256	broad.mit.edu	37	12	129558602	129558602	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:129558602A>T	ENST00000422113.2	-	9	3444	c.3118T>A	c.(3118-3120)Tca>Aca	p.S1040T	TMEM132D_ENST00000389441.4_Missense_Mutation_p.S578T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1040					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTCCTTTTTGAGGTAGGGGAT	0.483																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(3118-3120)Tca>Aca		transmembrane protein 132D							112.0	117.0	115.0					12																	129558602		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129558602A>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3118T>A	12.37:g.129558602A>T	ENSP00000408581:p.Ser1040Thr					TMEM132D_ENST00000389441.4_Missense_Mutation_p.S578T	p.S1040T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3444	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	1040					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.3118T>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.857560	0.51376	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.13307	2.6;3.32	4.16	3.01	0.34805	.	0.203920	0.34156	N	0.004205	T	0.22859	0.0552	M	0.64404	1.975	0.33577	D	0.599383	B;P	0.43352	0.211;0.804	B;P	0.51487	0.04;0.671	T	0.22941	-1.0202	9	.	.	.	-17.2312	9.5137	0.39093	0.9145:0.0:0.0855:0.0	.	1040;578	Q14C87;Q14C87-2	T132D_HUMAN;.	T	578;1040	ENSP00000374092:S578T;ENSP00000408581:S1040T	.	S	-	1	0	TMEM132D	128124555	1.000000	0.71417	0.711000	0.30485	0.907000	0.53573	5.465000	0.66725	0.578000	0.29487	0.460000	0.39030	TCA		0.483	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		5	298	0	0	0	1	0	5	298				
IGSF22	283284	broad.mit.edu	37	11	18729478	18729478	+	Silent	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:18729478A>T	ENST00000513874.1	-	20	3292	c.3153T>A	c.(3151-3153)atT>atA	p.I1051I	IGSF22_ENST00000510673.1_5'Flank|RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	654										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGCTCTTGGTAATTGTCTCTC	0.517																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(3151-3153)atT>atA		immunoglobulin superfamily, member 22							181.0	178.0	179.0					11																	18729478		2031	4179	6210	SO:0001819	synonymous_variant	283284							g.chr11:18729478A>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.3153T>A	11.37:g.18729478A>T						RP11-1081L13.4_ENST00000527285.1_RNA	p.I1051I	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			20	3292	-			849					A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	c.3153T>A	CCDS41625.2																																																																																				0.517	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		5	249	0	0	0	1	0	5	249				
AHNAK	79026	broad.mit.edu	37	11	62297944	62297944	+	Silent	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:62297944C>T	ENST00000378024.4	-	5	4219	c.3945G>A	c.(3943-3945)gaG>gaA	p.E1315E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1315					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGAAGTGCATCTCAGGCATCT	0.522																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(3943-3945)gaG>gaA		AHNAK nucleoprotein							160.0	166.0	164.0					11																	62297944		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62297944C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3945G>A	11.37:g.62297944C>T						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.E1315E	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4219	-		Melanoma(852;0.155)	1315					A1A586	Silent	SNP	ENST00000378024.4	37	c.3945G>A	CCDS31584.1																																																																																				0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		9	237	0	0	0	1	0	9	237				
ADAMTS10	81794	broad.mit.edu	37	19	8668756	8668756	+	Missense_Mutation	SNP	C	C	A	rs146637359		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:8668756C>A	ENST00000597188.1	-	5	718	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.V150L|ADAMTS10_ENST00000596709.1_5'UTR	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	150						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCGTCTGCCACGATCAGGCCG	0.552																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(448-450)Gtg>Ttg		ADAM metallopeptidase with thrombospondin type 1 motif, 10							74.0	68.0	70.0					19																	8668756		2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8668756C>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.448G>T	19.37:g.8668756C>A	ENSP00000471851:p.Val150Leu					ADAMTS10_ENST00000597188.1_Missense_Mutation_p.V150L|ADAMTS10_ENST00000596709.1_5'UTR	p.V150L			Q9H324	ATS10_HUMAN			4	714	-			150					M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.448G>T	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833484	0.71258	.	.	ENSG00000142303	ENST00000270328	T	0.06068	3.35	5.72	5.72	0.89469	Peptidase M12B, propeptide (1);	0.157695	0.41097	D	0.000949	T	0.20170	0.0485	M	0.69358	2.11	0.80722	D	1	P	0.48589	0.912	P	0.55161	0.77	T	0.00021	-1.2349	10	0.45353	T	0.12	.	18.8667	0.92294	0.0:1.0:0.0:0.0	.	150	Q9H324	ATS10_HUMAN	L	150	ENSP00000270328:V150L	ENSP00000270328:V150L	V	-	1	0	ADAMTS10	8574756	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.235000	0.78143	2.705000	0.92388	0.585000	0.79938	GTG		0.552	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		4	143	1	0	0.014758	1	0.0149986	4	143				
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000300399.3_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_ENST00000432451.2_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000300399.3_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	149	0	0	0	1	0	6	149				
ZDHHC21	340481	broad.mit.edu	37	9	14674264	14674264	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:14674264T>A	ENST00000380916.4	-	4	541	c.75A>T	c.(73-75)ttA>ttT	p.L25F		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	25					hair follicle development (GO:0001942)|nitric oxide metabolic process (GO:0046209)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)|regulation of nitric-oxide synthase activity (GO:0050999)|sebaceous gland development (GO:0048733)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		CAATATTGTATAACCAAACAA	0.353																																						ENST00000380916.3																			0				endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9						c.(73-75)ttA>ttT		zinc finger, DHHC-type containing 21							99.0	105.0	103.0					9																	14674264		2203	4300	6503	SO:0001583	missense	340481				nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding	g.chr9:14674264T>A	AF161360	CCDS6475.1	9p22.3	2010-02-09			ENSG00000175893	ENSG00000175893		"""Zinc fingers, DHHC-type"""	20750	protein-coding gene	gene with protein product		614605				19956733	Standard	NM_178566		Approved	HSPC097, DNZ1	uc003zlg.2	Q8IVQ6	OTTHUMG00000019573	ENST00000380916.4:c.75A>T	9.37:g.14674264T>A	ENSP00000370303:p.Leu25Phe						p.L25F	NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN		GBM - Glioblastoma multiforme(50;4.31e-06)	4	541	-			25					A8KA95|D3DRI7|Q5VWG1	Missense_Mutation	SNP	ENST00000380916.4	37	c.75A>T	CCDS6475.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.642975	0.29246	.	.	ENSG00000175893	ENST00000380916	T	0.49432	0.78	5.87	2.29	0.28610	.	0.352879	0.30401	N	0.009703	T	0.21468	0.0517	N	0.12182	0.205	0.32298	N	0.565395	B	0.06786	0.001	B	0.06405	0.002	T	0.08994	-1.0695	10	0.21014	T	0.42	-9.2795	1.7145	0.02899	0.13:0.2998:0.135:0.4353	.	25	Q8IVQ6	ZDH21_HUMAN	F	25	ENSP00000370303:L25F	ENSP00000370303:L25F	L	-	3	2	ZDHHC21	14664264	0.918000	0.31147	1.000000	0.80357	0.909000	0.53808	-0.078000	0.11375	0.153000	0.19213	-0.640000	0.03970	TTA		0.353	ZDHHC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051748.2	NM_178566		5	298	0	0	0	1	0	5	298				
TOPORS	10210	broad.mit.edu	37	9	32541886	32541886	+	Silent	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:32541886A>T	ENST00000360538.2	-	3	2753	c.2637T>A	c.(2635-2637)acT>acA	p.T879T	TOPORS_ENST00000379858.1_Silent_p.T814T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	879	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		tATGGTGTTTAGTTGTATCAG	0.383																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2635-2637)acT>acA		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							162.0	168.0	166.0					9																	32541886		2203	4300	6503	SO:0001819	synonymous_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541886A>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2637T>A	9.37:g.32541886A>T						TOPORS_ENST00000379858.1_Silent_p.T814T	p.T879T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2753	-			879			Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.		O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.2637T>A	CCDS6527.1																																																																																				0.383	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		8	485	0	0	0	1	0	8	485				
PLCH1	23007	broad.mit.edu	37	3	155314057	155314057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:155314057G>A	ENST00000340059.7	-	2	153	c.154C>T	c.(154-156)Cga>Tga	p.R52*	PLCH1_ENST00000494598.1_Nonsense_Mutation_p.R52*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.R34*|PLCH1_ENST00000447496.2_Nonsense_Mutation_p.R52*|PLCH1_ENST00000460012.1_Nonsense_Mutation_p.R34*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.R34*	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	52	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGTCGCCATCGGAGGCGTGTC	0.493																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(100-102)Cga>Tga		phospholipase C, eta 1							164.0	164.0	164.0					3																	155314057		2203	4300	6503	SO:0001587	stop_gained	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155314057G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.154C>T	3.37:g.155314057G>A	ENSP00000345988:p.Arg52*					PLCH1_ENST00000447496.2_Nonsense_Mutation_p.R52*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.R34*|PLCH1_ENST00000340059.7_Nonsense_Mutation_p.R52*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.R34*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.R52*	p.R34*			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		3	457	-			52			PH.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Nonsense_Mutation	SNP	ENST00000340059.7	37	c.100C>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100861	0.94245	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	4.98	4.98	0.66077	.	0.000000	0.51477	D	0.000094	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1176	0.53873	0.0:0.0:0.6995:0.3005	.	.	.	.	X	52;34;52;52;34;34	.	ENSP00000335469:R34X	R	-	1	2	PLCH1	156796751	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	3.435000	0.52849	2.311000	0.77944	0.655000	0.94253	CGA		0.493	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		8	416	0	0	0	1	0	8	416				
DEPDC1B	55789	broad.mit.edu	37	5	59901583	59901583	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:59901583C>T	ENST00000265036.5	-	8	1066	c.999G>A	c.(997-999)atG>atA	p.M333I	DEPDC1B_ENST00000545085.1_Missense_Mutation_p.M306I|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.M333I|DEPDC1B_ENST00000509006.1_5'UTR	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	333	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TCCTTGCCATCATCCTCATCA	0.418																																						ENST00000265036.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17						c.(997-999)atG>atA		DEP domain containing 1B							212.0	190.0	197.0					5																	59901583		2203	4300	6503	SO:0001583	missense	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59901583C>T	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.999G>A	5.37:g.59901583C>T	ENSP00000265036:p.Met333Ile					DEPDC1B_ENST00000509006.1_5'UTR|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.M333I|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.M306I	p.M333I	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN			8	1066	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	333			Rho-GAP.		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	37	c.999G>A	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900522	0.52227	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.17854	2.25;2.25;2.25	4.47	4.47	0.54385	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.240298	0.49305	D	0.000148	T	0.22898	0.0553	M	0.69823	2.125	0.47476	D	0.999438	B;B	0.10296	0.001;0.003	B;B	0.15870	0.008;0.014	T	0.05500	-1.0881	9	.	.	.	-10.5807	17.3393	0.87291	0.0:1.0:0.0:0.0	.	333;333	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	I	333;333;306	ENSP00000265036:M333I;ENSP00000389101:M333I;ENSP00000438320:M306I	.	M	-	3	0	DEPDC1B	59937340	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.842000	0.39250	2.314000	0.78098	0.650000	0.86243	ATG		0.418	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		6	951	0	0	0	1	0	6	951				
TGM5	9333	broad.mit.edu	37	15	43544964	43544964	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:43544964C>T	ENST00000220420.5	-	6	862	c.855G>A	c.(853-855)atG>atA	p.M285I	TGM5_ENST00000349114.4_Missense_Mutation_p.M203I	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	285					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TACCTGTGCACATGACGGCAG	0.582																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(853-855)atG>atA		transglutaminase 5	L-Glutamine(DB00130)						70.0	69.0	69.0					15																	43544964		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43544964C>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.855G>A	15.37:g.43544964C>T	ENSP00000220420:p.Met285Ile					TGM5_ENST00000349114.4_Missense_Mutation_p.M203I	p.M285I	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	6	862	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	285					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.855G>A	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706506	0.68615	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.88664	-2.41;-2.41	4.88	3.96	0.45880	Transglutaminase, conserved site (1);Transglutaminase-like (2);	0.044145	0.85682	D	0.000000	D	0.93083	0.7798	M	0.86178	2.8	0.38406	D	0.945805	D;P	0.58268	0.982;0.664	P;P	0.58577	0.841;0.527	D	0.93969	0.7247	10	0.62326	D	0.03	-17.1478	11.3248	0.49442	0.0:0.9095:0.0:0.0905	.	203;285	O43548-2;O43548	.;TGM5_HUMAN	I	285;203;284	ENSP00000220420:M285I;ENSP00000220419:M203I	ENSP00000220420:M285I	M	-	3	0	TGM5	41332256	0.989000	0.36119	1.000000	0.80357	0.977000	0.68977	0.653000	0.24902	1.178000	0.42870	0.655000	0.94253	ATG		0.582	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		84	132	0	0	0	1	0	84	132				
OR6C6	283365	broad.mit.edu	37	12	55688115	55688115	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:55688115T>C	ENST00000358433.2	-	1	901	c.902A>G	c.(901-903)gAt>gGt	p.D301G		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTGTAATACATCCCAGAAGAC	0.368																																						ENST00000358433.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(901-903)gAt>gGt		olfactory receptor, family 6, subfamily C, member 6							54.0	58.0	57.0					12																	55688115		2202	4300	6502	SO:0001583	missense	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688115T>C		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.902A>G	12.37:g.55688115T>C	ENSP00000351211:p.Asp301Gly						p.D301G	NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN			1	901	-			301						Missense_Mutation	SNP	ENST00000358433.2	37	c.902A>G	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	14.73	2.623814	0.46840	.	.	ENSG00000188324	ENST00000358433	T	0.37058	1.22	4.28	3.12	0.35913	.	0.119831	0.36200	N	0.002724	T	0.18467	0.0443	N	0.11201	0.11	0.09310	N	1	B	0.22909	0.077	B	0.23150	0.044	T	0.15407	-1.0438	10	0.59425	D	0.04	.	6.7854	0.23670	0.0:0.1932:0.0:0.8068	.	301	A6NF89	OR6C6_HUMAN	G	301	ENSP00000351211:D301G	ENSP00000351211:D301G	D	-	2	0	OR6C6	53974382	0.055000	0.20627	0.003000	0.11579	0.965000	0.64279	3.694000	0.54742	0.805000	0.34159	0.519000	0.50382	GAT		0.368	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			3	108	0	0	0	1	0	3	108				
PKD2	5311	broad.mit.edu	37	4	88967931	88967931	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:88967931A>T	ENST00000237596.2	+	6	1523	c.1457A>T	c.(1456-1458)tAc>tTc	p.Y486F	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|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 fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTTATCTTTTACTATGTGGTG	0.383																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(1456-1458)tAc>tTc		polycystic kidney disease 2 (autosomal dominant)							209.0	193.0	198.0					4																	88967931		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88967931A>T	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1457A>T	4.37:g.88967931A>T	ENSP00000237596:p.Tyr486Phe					PKD2_ENST00000508588.1_Intron	p.Y486F	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	6	1523	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	486					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	37	c.1457A>T	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486666	0.84854	.	.	ENSG00000118762	ENST00000237596	D	0.96992	-4.2	5.62	5.62	0.85841	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.96219	0.8767	L	0.59967	1.855	0.80722	D	1	B	0.25486	0.127	B	0.40134	0.32	D	0.95130	0.8254	10	0.62326	D	0.03	-20.057	15.8159	0.78599	1.0:0.0:0.0:0.0	.	486	Q13563	PKD2_HUMAN	F	486	ENSP00000237596:Y486F	ENSP00000237596:Y486F	Y	+	2	0	PKD2	89186955	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.296000	0.96104	2.133000	0.65898	0.482000	0.46254	TAC		0.383	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		5	330	0	0	0	1	0	5	330				
TTN	7273	broad.mit.edu	37	2	179411072	179411072	+	Silent	SNP	G	G	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:179411072G>T	ENST00000591111.1	-	292	90287	c.90063C>A	c.(90061-90063)gtC>gtA	p.V30021V	TTN_ENST00000359218.5_Silent_p.V22722V|TTN_ENST00000460472.2_Silent_p.V22597V|TTN_ENST00000589042.1_Silent_p.V31662V|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.V29094V|TTN_ENST00000342175.6_Silent_p.V22789V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30021	Ig-like 136.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGCAAAGAGACTTTTTCAC	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(94984-94986)gtC>gtA		titin							157.0	154.0	155.0					2																	179411072		1937	4140	6077	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411072G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90063C>A	2.37:g.179411072G>T						TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.V22722V|TTN_ENST00000342992.6_Silent_p.V29094V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.V22789V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.V22597V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.V30021V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.V31662V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		342	95210	-			30021			Fibronectin type-III 130.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.94986C>A																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	218	1	0	2.48551e-13	1	2.6712e-13	15	218				
NETO1	81832	broad.mit.edu	37	18	70451003	70451003	+	Silent	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr18:70451003G>A	ENST00000327305.6	-	7	1435	c.778C>T	c.(778-780)Cta>Tta	p.L260L	NETO1_ENST00000583169.1_Silent_p.L260L|NETO1_ENST00000299430.2_Silent_p.L259L	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	260	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CCCGTGCGTAGCATGACATCA	0.473																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(778-780)Cta>Tta		neuropilin (NRP) and tolloid (TLL)-like 1							207.0	175.0	186.0					18																	70451003		2203	4300	6503	SO:0001819	synonymous_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70451003G>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.778C>T	18.37:g.70451003G>A						NETO1_ENST00000299430.2_Silent_p.L259L|NETO1_ENST00000583169.1_Silent_p.L260L	p.L260L	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	7	1435	-		Esophageal squamous(42;0.129)	260			CUB 2.		Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	c.778C>T	CCDS12000.1																																																																																				0.473	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		4	358	0	0	0	1	0	4	358				
PLXNA4	91584	broad.mit.edu	37	7	131913110	131913110	+	Missense_Mutation	SNP	C	C	T	rs143690954		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:131913110C>T	ENST00000359827.3	-	6	2685	c.1723G>A	c.(1723-1725)Gtg>Atg	p.V575M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V575M			Q9HCM2	PLXA4_HUMAN	plexin A4	575					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						CTTACCAGCACGTTGTACTGA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		16874	0.001		0.0	False		,,,				2504	0.0					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.(1723-1725)Gtg>Atg		plexin A4							65.0	68.0	67.0					7																	131913110		1971	4149	6120	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131913110C>T	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.1723G>A	7.37:g.131913110C>T	ENSP00000352882:p.Val575Met					PLXNA4_ENST00000321063.4_Missense_Mutation_p.V575M	p.V575M			Q9HCM2	PLXA4_HUMAN			6	2685	-			575					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1723G>A	CCDS43646.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	31	5.102977	0.94245	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.01059	5.39;5.39	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.02929	0.0087	L	0.58510	1.815	0.80722	D	1	D	0.53885	0.963	P	0.45195	0.473	T	0.55897	-0.8068	10	0.51188	T	0.08	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	575	Q9HCM2	PLXA4_HUMAN	M	575	ENSP00000323194:V575M;ENSP00000352882:V575M	ENSP00000323194:V575M	V	-	1	0	PLXNA4	131563650	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.946000	0.70234	2.793000	0.96121	0.655000	0.94253	GTG		0.587	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		35	67	0	0	0	1	0	35	67				
ITIH2	3698	broad.mit.edu	37	10	7751105	7751105	+	Missense_Mutation	SNP	G	G	A	rs142420238		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr10:7751105G>A	ENST00000358415.4	+	4	479	c.313G>A	c.(313-315)Gtg>Atg	p.V105M	ITIH2_ENST00000379587.4_Missense_Mutation_p.V94M|ITIH2_ENST00000480387.1_Intron	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	105	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCAGAATGTCGTGTTTGATGT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		20035	0.001		0.0	False		,,,				2504	0.0					ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(313-315)Gtg>Atg		inter-alpha-trypsin inhibitor heavy chain 2		G	MET/VAL	0,4406		0,0,2203	137.0	127.0	131.0		313	5.8	0.8	10	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITIH2	NM_002216.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	105/947	7751105	1,13005	2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7751105G>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.313G>A	10.37:g.7751105G>A	ENSP00000351190:p.Val105Met					ITIH2_ENST00000379587.4_Missense_Mutation_p.V94M|ITIH2_ENST00000480387.1_Intron	p.V105M	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			4	479	+			105			VIT.		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.313G>A	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782725	0.90282	0.0	1.16E-4	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.22743	1.94;1.94;1.94	5.85	5.85	0.93711	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.176974	0.49916	D	0.000135	T	0.49098	0.1537	M	0.78637	2.42	0.44562	D	0.997528	D	0.69078	0.997	D	0.63877	0.919	T	0.44236	-0.9341	10	0.56958	D	0.05	-22.4983	20.1663	0.98152	0.0:0.0:1.0:0.0	.	105	P19823	ITIH2_HUMAN	M	105;80;94	ENSP00000351190:V105M;ENSP00000388826:V80M;ENSP00000368906:V94M	ENSP00000351190:V105M	V	+	1	0	ITIH2	7791111	1.000000	0.71417	0.840000	0.33206	0.956000	0.61745	4.656000	0.61483	2.773000	0.95371	0.585000	0.79938	GTG		0.443	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		30	169	0	0	0	1	0	30	169				
DNAH10	196385	broad.mit.edu	37	12	124416373	124416373	+	Silent	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:124416373G>A	ENST00000409039.3	+	74	12778	c.12753G>A	c.(12751-12753)aaG>aaA	p.K4251K	DNAH10_ENST00000538983.1_3'UTR|CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4251					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGATGACGAAGTCTCTGGCTG	0.562																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(12751-12753)aaG>aaA		dynein, axonemal, heavy chain 10							115.0	113.0	114.0					12																	124416373		2024	4183	6207	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124416373G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12753G>A	12.37:g.124416373G>A						DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron|DNAH10_ENST00000538983.1_3'UTR	p.K4251K	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	74	12778	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4251					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.12753G>A	CCDS9255.2																																																																																				0.562	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			26	231	0	0	0	1	0	26	231				
SFT2D2	375035	broad.mit.edu	37	1	168200778	168200778	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:168200778G>T	ENST00000271375.4	+	2	162	c.90G>T	c.(88-90)tgG>tgT	p.W30C	SFT2D2_ENST00000367825.3_Missense_Mutation_p.W30C|SFT2D2_ENST00000367829.1_Missense_Mutation_p.W30C|SFT2D2_ENST00000471981.1_3'UTR	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					CATTAAGCTGGAGTACCAGGA	0.363																																						ENST00000271375.3																			0				lung(3)|skin(1)	4						c.(88-90)tgG>tgT		SFT2 domain containing 2							212.0	197.0	202.0					1																	168200778		2203	4300	6503	SO:0001583	missense	375035				protein transport|vesicle-mediated transport	integral to membrane		g.chr1:168200778G>T	AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.90G>T	1.37:g.168200778G>T	ENSP00000271375:p.Trp30Cys					SFT2D2_ENST00000367829.1_Missense_Mutation_p.W30C|SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367825.3_Missense_Mutation_p.W30C	p.W30C	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN			2	162	+	all_hematologic(923;0.215)		30						Missense_Mutation	SNP	ENST00000271375.4	37	c.90G>T	CCDS1271.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795400	0.70452	.	.	ENSG00000213064	ENST00000367829;ENST00000271375;ENST00000367825	T	0.47177	0.85	5.57	5.57	0.84162	.	0.000000	0.85682	U	0.000000	T	0.41305	0.1153	M	0.82323	2.585	0.51012	D	0.999902	B	0.26512	0.151	B	0.25291	0.059	T	0.45498	-0.9257	9	0.38643	T	0.18	0.2344	16.4715	0.84112	0.0:0.0:1.0:0.0	.	30	O95562	SFT2B_HUMAN	C	30	ENSP00000271375:W30C	ENSP00000271375:W30C	W	+	3	0	SFT2D2	166467402	1.000000	0.71417	0.951000	0.38953	0.784000	0.44337	6.840000	0.75369	2.606000	0.88127	0.650000	0.86243	TGG		0.363	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083827.2	NM_199344		6	214	1	0	3.09899e-07	1	3.27407e-07	6	214				
LY6G6C	80740	broad.mit.edu	37	6	31686952	31686952	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:31686952G>A	ENST00000375819.2	-	3	464	c.299C>T	c.(298-300)gCa>gTa	p.A100V	LY6G6C_ENST00000495859.1_Missense_Mutation_p.A44V	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	100	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						CCGGGGTCCTGCGCTGTTGCA	0.592																																						ENST00000375819.2																			0				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(298-300)gCa>gTa		lymphocyte antigen 6 complex, locus G6C							139.0	122.0	128.0					6																	31686952		2203	4300	6503	SO:0001583	missense	80740					anchored to membrane|plasma membrane		g.chr6:31686952G>A		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	ENST00000375819.2:c.299C>T	6.37:g.31686952G>A	ENSP00000364978:p.Ala100Val					LY6G6C_ENST00000495859.1_Missense_Mutation_p.A44V	p.A100V	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN			3	464	-			100			UPAR/Ly6.		Q5SRS8|Q8IY94	Missense_Mutation	SNP	ENST00000375819.2	37	c.299C>T	CCDS4714.1	.	.	.	.	.	.	.	.	.	.	g	1.899	-0.453574	0.04540	.	.	ENSG00000204421	ENST00000495859;ENST00000375819	T;T	0.44482	0.92;0.93	5.25	0.68	0.17980	.	0.821049	0.10524	N	0.664677	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.17098	0.017	T	0.41197	-0.9522	10	0.23891	T	0.37	-19.0824	7.8348	0.29363	0.4468:0.0:0.5532:0.0	.	100	O95867	LY66C_HUMAN	V	44;100	ENSP00000433207:A44V;ENSP00000364978:A100V	ENSP00000364978:A100V	A	-	2	0	LY6G6C	31794931	0.380000	0.25131	0.077000	0.20336	0.132000	0.20833	0.640000	0.24705	0.196000	0.20367	0.466000	0.42574	GCA		0.592	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			4	313	0	0	0	1	0	4	313				
MKI67	4288	broad.mit.edu	37	10	129904328	129904328	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr10:129904328C>G	ENST00000368654.3	-	13	6151	c.5776G>C	c.(5776-5778)Gag>Cag	p.E1926Q	MKI67_ENST00000368653.3_Missense_Mutation_p.E1566Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1926	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCCAGTTTCTCCACTGGAGTC	0.483																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(5776-5778)Gag>Cag		marker of proliferation Ki-67							199.0	199.0	199.0					10																	129904328		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904328C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5776G>C	10.37:g.129904328C>G	ENSP00000357643:p.Glu1926Gln					MKI67_ENST00000368653.3_Missense_Mutation_p.E1566Q	p.E1926Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	6151	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1926			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.5776G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.448370	0.01080	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01464	4.86;4.86	3.66	0.404	0.16355	.	0.989823	0.08169	N	0.987361	T	0.00666	0.0022	N	0.00621	-1.32	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.43458	-0.9390	10	0.06236	T	0.91	.	8.6806	0.34207	0.0:0.3048:0.5401:0.155	.	1925;1566;1926	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	1926;1566;1925	ENSP00000357643:E1926Q;ENSP00000357642:E1566Q	ENSP00000357642:E1566Q	E	-	1	0	MKI67	129794318	0.000000	0.05858	0.035000	0.18076	0.015000	0.08874	-0.481000	0.06552	0.330000	0.23485	-0.128000	0.14901	GAG		0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		4	367	0	0	0	1	0	4	367				
MBD3L1	85509	broad.mit.edu	37	19	8953585	8953585	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:8953585C>G	ENST00000595891.1	+	3	462	c.231C>G	c.(229-231)taC>taG	p.Y77*	MBD3L1_ENST00000305625.2_Nonsense_Mutation_p.Y77*			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	77	Transcription repressor.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						TCCAGGCTTACAGCAGTGCAG	0.522																																						ENST00000595891.1																			0				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						c.(229-231)taC>taG		methyl-CpG binding domain protein 3-like 1							94.0	88.0	90.0					19																	8953585		2203	4300	6503	SO:0001587	stop_gained	85509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:8953585C>G	AY038022	CCDS12209.1	19p13.2	2011-01-31	2003-03-19	2003-03-21	ENSG00000170948	ENSG00000170948			15774	protein-coding gene	gene with protein product		607963	"""methyl-CpG binding domain protein 3-like"""	MBD3L		12504854	Standard	NM_145208		Approved		uc002mko.2	Q8WWY6		ENST00000595891.1:c.231C>G	19.37:g.8953585C>G	ENSP00000471575:p.Tyr77*					MBD3L1_ENST00000305625.2_Nonsense_Mutation_p.Y77*	p.Y77*			Q8WWY6	MB3L1_HUMAN			3	462	+			77			Transcription repressor.		B5BUM6|Q2M291	Nonsense_Mutation	SNP	ENST00000595891.1	37	c.231C>G	CCDS12209.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939663	0.52972	.	.	ENSG00000170948	ENST00000305625	.	.	.	3.75	1.62	0.23740	.	0.265329	0.20127	N	0.098668	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.7691	5.9083	0.19014	0.0:0.7614:0.0:0.2386	.	.	.	.	X	77	.	ENSP00000304198:Y77X	Y	+	3	2	MBD3L1	8814585	0.004000	0.15560	0.520000	0.27837	0.465000	0.32709	-0.104000	0.10923	0.541000	0.28827	-0.150000	0.13652	TAC		0.522	MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459973.1	NM_145208		10	504	0	0	0	1	0	10	504				
LAMA4	3910	broad.mit.edu	37	6	112463456	112463456	+	Silent	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:112463456C>T	ENST00000230538.7	-	20	2929	c.2532G>A	c.(2530-2532)gtG>gtA	p.V844V	LAMA4_ENST00000522006.1_Silent_p.V837V|LAMA4_ENST00000389463.4_Silent_p.V837V|LAMA4_ENST00000424408.2_Silent_p.V837V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	844	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGTGCACTTCCACAGCTGACT	0.507																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2530-2532)gtG>gtA		laminin, alpha 4							135.0	120.0	125.0					6																	112463456		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112463456C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2532G>A	6.37:g.112463456C>T						LAMA4_ENST00000389463.4_Silent_p.V837V|LAMA4_ENST00000424408.2_Silent_p.V837V|LAMA4_ENST00000522006.1_Silent_p.V837V	p.V844V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	20	2929	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	844			Laminin G-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.2532G>A	CCDS43491.1																																																																																				0.507	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		7	145	0	0	0	1	0	7	145				
CLEC4M	10332	broad.mit.edu	37	19	7832420	7832420	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:7832420A>T	ENST00000327325.5	+	6	1073	c.955A>T	c.(955-957)Act>Tct	p.T319S	CLEC4M_ENST00000595496.1_Missense_Mutation_p.T183S|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000248228.4_Missense_Mutation_p.T297S|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000334806.5_Missense_Mutation_p.T268S|CLEC4M_ENST00000394122.2_Missense_Mutation_p.T307S|CLEC4M_ENST00000596707.1_Missense_Mutation_p.T252S|CLEC4M_ENST00000359059.5_Missense_Mutation_p.T252S|CLEC4M_ENST00000597522.1_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	319	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						ACAGCTGCAGACTTCCAGGAG	0.552																																						ENST00000327325.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(955-957)Act>Tct		C-type lectin domain family 4, member M							102.0	89.0	94.0					19																	7832420		2203	4300	6503	SO:0001583	missense	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7832420A>T	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.955A>T	19.37:g.7832420A>T	ENSP00000316228:p.Thr319Ser					CLEC4M_ENST00000248228.4_Missense_Mutation_p.T297S|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000394122.2_Missense_Mutation_p.T307S|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000595496.1_Missense_Mutation_p.T183S|CLEC4M_ENST00000359059.5_Missense_Mutation_p.T252S|CLEC4M_ENST00000596707.1_Missense_Mutation_p.T252S|CLEC4M_ENST00000334806.5_Missense_Mutation_p.T268S	p.T319S	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN			6	1073	+			319			C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	c.955A>T	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.947181	0.00475	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	2.42	-4.84	0.03151	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.08044	0.0201	N	0.25426	0.745	0.09310	N	0.999998	B;B;B;B;B;B	0.09022	0.002;0.0;0.001;0.0;0.001;0.001	B;B;B;B;B;B	0.13407	0.007;0.0;0.004;0.007;0.002;0.009	T	0.38735	-0.9647	9	0.13108	T	0.6	.	3.4919	0.07641	0.3644:0.0:0.3242:0.3114	.	268;252;319;307;296;183	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7	.;.;CLC4M_HUMAN;.;.;.	S	319;307;297;268;252	ENSP00000316228:T319S;ENSP00000377680:T307S;ENSP00000248228:T297S;ENSP00000335228:T268S;ENSP00000351954:T252S	ENSP00000248228:T297S	T	+	1	0	CLEC4M	7738420	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.311000	0.08124	-2.225000	0.00724	-2.665000	0.00146	ACT		0.552	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		7	223	0	0	0	1	0	7	223				
RNASEH1	246243	broad.mit.edu	37	2	3597991	3597991	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:3597991C>T	ENST00000315212.3	-	4	836	c.481G>A	c.(481-483)Ggc>Agc	p.G161S	RP13-512J5.1_ENST00000438485.1_5'Flank	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	161	RNase H. {ECO:0000255|PROSITE- ProRule:PRU00408}.				mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		CAGTAAACGCCGATTCCTGCT	0.517																																						ENST00000315212.3																			0				endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13						c.(481-483)Ggc>Agc		ribonuclease H1							114.0	126.0	122.0					2																	3597991		2203	4300	6503	SO:0001583	missense	246243				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding	g.chr2:3597991C>T	AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"""RNase H1"""	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279	ENST00000315212.3:c.481G>A	2.37:g.3597991C>T	ENSP00000313350:p.Gly161Ser						p.G161S	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)	4	836	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		161			RNase H.		B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000315212.3	37	c.481G>A	CCDS1647.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176430	0.78564	.	.	ENSG00000171865	ENST00000315212	T	0.59906	0.23	5.43	5.43	0.79202	Ribonuclease H domain (2);Ribonuclease H-like (1);	0.053880	0.85682	D	0.000000	T	0.81221	0.4777	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.84885	0.0833	10	0.66056	D	0.02	-7.1092	17.0966	0.86637	0.0:1.0:0.0:0.0	.	161	O60930	RNH1_HUMAN	S	161	ENSP00000313350:G161S	ENSP00000313350:G161S	G	-	1	0	RNASEH1	3575866	1.000000	0.71417	0.576000	0.28549	0.204000	0.24138	6.354000	0.73036	2.687000	0.91594	0.643000	0.83706	GGC		0.517	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206605.2			7	373	0	0	0	1	0	7	373				
ITSN2	50618	broad.mit.edu	37	2	24522890	24522890	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:24522890A>T	ENST00000355123.4	-	12	1675	c.1232T>A	c.(1231-1233)tTa>tAa	p.L411*	ITSN2_ENST00000361999.3_Nonsense_Mutation_p.L411*|ITSN2_ENST00000406921.3_Nonsense_Mutation_p.L411*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	411					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTTCTTGTAATTCTCTCTG	0.433																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(1231-1233)tTa>tAa		intersectin 2							257.0	234.0	242.0					2																	24522890		2203	4300	6503	SO:0001587	stop_gained	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24522890A>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1232T>A	2.37:g.24522890A>T	ENSP00000347244:p.Leu411*					ITSN2_ENST00000406921.3_Nonsense_Mutation_p.L411*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.L411*	p.L411*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			12	1675	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		411					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Nonsense_Mutation	SNP	ENST00000355123.4	37	c.1232T>A	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	A	38	6.662790	0.97743	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	.	.	.	5.76	5.76	0.90799	.	0.544217	0.11500	U	0.557811	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	7.3868	0.26886	0.6342:0.2393:0.0:0.1265	.	.	.	.	X	411;411;411;435;411;436	.	ENSP00000347244:L411X	L	-	2	0	ITSN2	24376394	0.014000	0.17966	0.031000	0.17742	0.978000	0.69477	1.765000	0.38481	2.333000	0.79357	0.482000	0.46254	TTA		0.433	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		6	239	0	0	0	1	0	6	239				
ATP13A4	84239	broad.mit.edu	37	3	193120496	193120496	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:193120496C>T	ENST00000342695.4	-	30	3858	c.3536G>A	c.(3535-3537)gGc>gAc	p.G1179D	ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.G1160D|ATP13A4_ENST00000400270.2_Missense_Mutation_p.G195D	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1179						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CACTCCTCTGCCACACTCCGG	0.463																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(3535-3537)gGc>gAc		ATPase type 13A4							99.0	97.0	98.0					3																	193120496		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193120496C>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3536G>A	3.37:g.193120496C>T	ENSP00000339182:p.Gly1179Asp					ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.G1160D|ATP13A4_ENST00000400270.2_Missense_Mutation_p.G195D	p.G1179D	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	30	3858	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		1179					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.3536G>A	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	3.867	-0.028659	0.07589	.	.	ENSG00000127249	ENST00000400270;ENST00000392443;ENST00000342695	T;D;D	0.84944	0.48;-1.63;-1.92	4.63	0.531	0.17108	.	0.505595	0.17196	N	0.183316	T	0.72803	0.3506	L	0.35854	1.095	0.19300	N	0.999979	B	0.10296	0.003	B	0.13407	0.009	T	0.55062	-0.8199	10	0.22109	T	0.4	-29.4619	5.2186	0.15356	0.0:0.5634:0.1548:0.2818	.	1179	Q4VNC1	AT134_HUMAN	D	195;1160;1179	ENSP00000383129:G195D;ENSP00000376238:G1160D;ENSP00000339182:G1179D	ENSP00000339182:G1179D	G	-	2	0	ATP13A4	194603190	0.000000	0.05858	0.028000	0.17463	0.046000	0.14306	-1.480000	0.02325	0.497000	0.27926	0.597000	0.82753	GGC		0.463	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		6	218	0	0	0	1	0	6	218				
RMDN1	51115	broad.mit.edu	37	8	87486540	87486540	+	Silent	SNP	A	A	G	rs542748747|rs529480556	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr8:87486540A>G	ENST00000406452.3	-	10	1101	c.942T>C	c.(940-942)aaT>aaC	p.N314N	RMDN1_ENST00000430676.2_Silent_p.N284N|RMDN1_ENST00000519966.1_Silent_p.N271N|RMDN1_ENST00000523911.1_Intron	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	314						microtubule (GO:0005874)|mitochondrion (GO:0005739)											AAAGTTCTCAATTCTTCTCAC	0.303													a|||	2	0.000399361	0.0	0.0	5008	,	,		17496	0.002		0.0	False		,,,				2504	0.0					ENST00000406452.3																			0											c.(940-942)aaT>aaC		regulator of microtubule dynamics 1							65.0	70.0	68.0					8																	87486540		2202	4292	6494	SO:0001819	synonymous_variant	51115							g.chr8:87486540A>G	AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.942T>C	8.37:g.87486540A>G						RMDN1_ENST00000519966.1_Silent_p.N271N|RMDN1_ENST00000430676.2_Silent_p.N284N|RMDN1_ENST00000523911.1_Intron	p.N314N	NM_016033.2	NP_057117.2					10	1101	-								A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Silent	SNP	ENST00000406452.3	37	c.942T>C	CCDS34918.1																																																																																				0.303	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		46	77	0	0	0	1	0	46	77				
DSCAML1	57453	broad.mit.edu	37	11	117307926	117307926	+	Silent	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:117307926G>A	ENST00000321322.6	-	26	4813	c.4812C>T	c.(4810-4812)gcC>gcT	p.A1604A	DSCAML1_ENST00000527706.1_Silent_p.A1334A	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1544					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGTACCACGTGGCCTCTCGCA	0.647																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4810-4812)gcC>gcT		Down syndrome cell adhesion molecule like 1							103.0	96.0	98.0					11																	117307926		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117307926G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4812C>T	11.37:g.117307926G>A						DSCAML1_ENST00000527706.1_Silent_p.A1334A	p.A1604A	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	26	4813	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1544					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.4812C>T	CCDS8384.1																																																																																				0.647	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		4	101	0	0	0	1	0	4	101				
VIT	5212	broad.mit.edu	37	2	37028452	37028452	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:37028452C>T	ENST00000389975.3	+	12	1324	c.1022C>T	c.(1021-1023)cCt>cTt	p.P341L	VIT_ENST00000401530.1_Missense_Mutation_p.P320L|VIT_ENST00000379241.3_Missense_Mutation_p.P319L|VIT_ENST00000404084.1_Missense_Mutation_p.P293L|VIT_ENST00000379242.3_Missense_Mutation_p.P356L|VIT_ENST00000497382.1_Missense_Mutation_p.P10L	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	341	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGAGACAACCCTGCTACTCAC	0.383																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1066-1068)cCt>cTt		vitrin							172.0	178.0	176.0					2																	37028452		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37028452C>T	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1022C>T	2.37:g.37028452C>T	ENSP00000374625:p.Pro341Leu					VIT_ENST00000497382.1_Missense_Mutation_p.P10L|VIT_ENST00000401530.1_Missense_Mutation_p.P320L|VIT_ENST00000379241.3_Missense_Mutation_p.P319L|VIT_ENST00000389975.3_Missense_Mutation_p.P341L|VIT_ENST00000404084.1_Missense_Mutation_p.P293L	p.P356L	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			13	1369	+		all_hematologic(82;0.248)	341			VWFA 1.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1067C>T	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743758	0.89663	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.66	5.66	0.87406	von Willebrand factor, type A (3);	0.108809	0.64402	D	0.000005	D	0.92668	0.7670	M	0.91354	3.2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.90389	0.4394	10	0.16420	T	0.52	-13.2561	19.7439	0.96243	0.0:1.0:0.0:0.0	.	320;319;341;356	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	L	356;341;10;293;319;320	ENSP00000368544:P356L;ENSP00000374625:P341L;ENSP00000417874:P10L;ENSP00000384154:P293L;ENSP00000368543:P319L;ENSP00000385658:P320L	ENSP00000368543:P319L	P	+	2	0	VIT	36881956	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	6.989000	0.76219	2.669000	0.90835	0.655000	0.94253	CCT		0.383	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				6	609	0	0	0	1	0	6	609				
MUC16	94025	broad.mit.edu	37	19	9048971	9048971	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:9048971G>A	ENST00000397910.4	-	5	32863	c.32660C>T	c.(32659-32661)gCa>gTa	p.A10887V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10889	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						ACTGATCACTGCCCTAGAACT	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32659-32661)gCa>gTa		mucin 16, cell surface associated							108.0	97.0	100.0					19																	9048971		1924	4131	6055	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048971G>A	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.32660C>T	19.37:g.9048971G>A	ENSP00000381008:p.Ala10887Val						p.A10887V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	32863	-			10889			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32660C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	9.297	1.052211	0.19827	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	3.42	-3.88	0.04205	.	.	.	.	.	T	0.02970	0.0088	L	0.49350	1.555	.	.	.	B	0.22683	0.073	B	0.22601	0.04	T	0.41875	-0.9484	8	0.87932	D	0	.	4.2067	0.10491	0.2128:0.0:0.2316:0.5556	.	10887	B5ME49	.	V	10887	ENSP00000381008:A10887V	ENSP00000381008:A10887V	A	-	2	0	MUC16	8909971	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.045000	0.14013	-0.661000	0.05345	0.461000	0.40582	GCA		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	1090	0	0	0	1	0	13	1090				
NETO2	81831	broad.mit.edu	37	16	47165938	47165938	+	Splice_Site	SNP	T	T	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:47165938T>A	ENST00000562435.1	-	2	419		c.e2-2		NETO2_ENST00000303155.5_Splice_Site	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2						regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTAACAACACTAGAGAAATAA	0.313										HNSCC(25;0.065)																												ENST00000562435.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29						c.e2-2		neuropilin (NRP) and tolloid (TLL)-like 2							173.0	166.0	168.0					16																	47165938		2202	4300	6502	SO:0001630	splice_region_variant	81831					integral to membrane	receptor activity	g.chr16:47165938T>A	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.35-2A>T	16.37:g.47165938T>A		HNSCC(25;0.065)				NETO2_ENST00000303155.5_Splice_Site		NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN			2	419	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)						J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Splice_Site	SNP	ENST00000562435.1	37		CCDS10727.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270482	0.80469	.	.	ENSG00000171208	ENST00000303155	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2987	0.73931	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NETO2	45723439	1.000000	0.71417	0.986000	0.45419	0.967000	0.64934	6.001000	0.70685	1.999000	0.58509	0.455000	0.32223	.		0.313	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092	Intron	5	480	0	0	0	1	0	5	480				
HBE1	3046	broad.mit.edu	37	11	5289808	5289808	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:5289808A>G	ENST00000380237.1	-	5	679	c.335T>C	c.(334-336)gTg>gCg	p.V112A	HBE1_ENST00000292896.2_Missense_Mutation_p.V112A|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	112					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAATAATCACCATCACGTT	0.473																																						ENST00000380237.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20						c.(334-336)gTg>gCg		hemoglobin, epsilon 1							178.0	161.0	167.0					11																	5289808		2201	4298	6499	SO:0001583	missense	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5289808A>G	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.335T>C	11.37:g.5289808A>G	ENSP00000369586:p.Val112Ala					HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.V112A	p.V112A			P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	679	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	112					Q6FH44	Missense_Mutation	SNP	ENST00000380237.1	37	c.335T>C	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.976781	0.74360	.	.	ENSG00000213931	ENST00000380237;ENST00000292896	D;D	0.93488	-3.23;-3.23	6.06	6.06	0.98353	Globin-like (1);Globin, structural domain (1);	0.345440	0.26612	U	0.023412	D	0.94621	0.8266	M	0.77103	2.36	0.09310	N	0.999999	P	0.48294	0.908	P	0.52309	0.695	D	0.90792	0.4687	10	0.87932	D	0	-6.5791	9.795	0.40728	0.8467:0.0:0.0:0.1533	.	112	P02100	HBE_HUMAN	A	112	ENSP00000369586:V112A;ENSP00000292896:V112A	ENSP00000292896:V112A	V	-	2	0	HBE1	5246384	0.995000	0.38212	0.682000	0.30024	0.899000	0.52679	4.528000	0.60580	2.324000	0.78689	0.533000	0.62120	GTG		0.473	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		7	434	0	0	0	1	0	7	434				
TOPORS	10210	broad.mit.edu	37	9	32541877	32541877	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:32541877A>T	ENST00000360538.2	-	3	2762	c.2646T>A	c.(2644-2646)caT>caA	p.H882Q	TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	882	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ttttctttttATGGTGTTTAG	0.373																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2644-2646)caT>caA		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							151.0	157.0	155.0					9																	32541877		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541877A>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2646T>A	9.37:g.32541877A>T	ENSP00000353735:p.His882Gln					TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q	p.H882Q	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2762	-			882			Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2646T>A	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244297	0.39697	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.15017	2.46;2.47	5.91	4.76	0.60689	.	0.000000	0.49305	D	0.000157	T	0.09555	0.0235	L	0.29908	0.895	0.32113	N	0.589054	P	0.35272	0.493	B	0.28991	0.097	T	0.17561	-1.0365	10	0.24483	T	0.36	-15.314	5.0089	0.14302	0.6863:0.1565:0.1572:0.0	.	882	Q9NS56	TOPRS_HUMAN	Q	882;817	ENSP00000353735:H882Q;ENSP00000369187:H817Q	ENSP00000353735:H882Q	H	-	3	2	TOPORS	32531877	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.101000	0.31037	1.058000	0.40530	0.528000	0.53228	CAT		0.373	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		10	488	0	0	0	1	0	10	488				
ABCC3	8714	broad.mit.edu	37	17	48745244	48745244	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr17:48745244G>A	ENST00000285238.8	+	13	1736	c.1656G>A	c.(1654-1656)tgG>tgA	p.W552*	ABCC3_ENST00000427699.1_3'UTR	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	552	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TCACCCTCTGGGTGTACGTGT	0.572																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1654-1656)tgG>tgA		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						145.0	120.0	128.0					17																	48745244		2203	4300	6503	SO:0001587	stop_gained	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48745244G>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1656G>A	17.37:g.48745244G>A	ENSP00000285238:p.Trp552*					ABCC3_ENST00000427699.1_3'UTR	p.W552*	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		13	1736	+			552			ABC transmembrane type-1 1.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Nonsense_Mutation	SNP	ENST00000285238.8	37	c.1656G>A	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740536	0.49045	.	.	ENSG00000108846	ENST00000285238	.	.	.	4.32	-7.21	0.01490	.	0.212622	0.37809	N	0.001936	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-9.2753	6.9927	0.24763	0.5638:0.0:0.1678:0.2684	.	.	.	.	X	552	.	ENSP00000285238:W552X	W	+	3	0	ABCC3	46100243	0.021000	0.18746	0.002000	0.10522	0.325000	0.28411	-0.826000	0.04429	-1.108000	0.03000	0.591000	0.81541	TGG		0.572	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		4	81	0	0	0	1	0	4	81				
IPO11	51194	broad.mit.edu	37	5	61738818	61738818	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:61738818C>A	ENST00000325324.6	+	3	316	c.147C>A	c.(145-147)ttC>ttA	p.F49L	KIF2A_ENST00000509663.2_Intron|RNU6-661P_ENST00000362409.1_RNA|IPO11_ENST00000409296.3_Missense_Mutation_p.F89L	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	49	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AGAATATTTTCACCAACCACA	0.313																																						ENST00000325324.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30						c.(145-147)ttC>ttA		importin 11							53.0	52.0	52.0					5																	61738818		2203	4300	6503	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61738818C>A	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.147C>A	5.37:g.61738818C>A	ENSP00000316651:p.Phe49Leu					IPO11_ENST00000409296.3_Missense_Mutation_p.F89L|KIF2A_ENST00000509663.2_Intron	p.F49L	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	3	316	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	49			Importin N-terminal.		A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.147C>A	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	C	6.356	0.433696	0.12045	.	.	ENSG00000086200	ENST00000514647;ENST00000505902;ENST00000325324;ENST00000506200;ENST00000409296	T;T;T;T;T	0.56776	0.44;4.08;0.44;0.44;0.44	4.68	0.822	0.18806	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.33059	0.0850	N	0.25957	0.775	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.16722	0.015;0.016	T	0.06373	-1.0830	10	0.17369	T	0.5	.	8.4723	0.32993	0.0:0.4982:0.0:0.5018	.	89;49	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	L	49;49;49;49;89	ENSP00000427129:F49L;ENSP00000425573:F49L;ENSP00000316651:F49L;ENSP00000427274:F49L;ENSP00000386992:F89L	ENSP00000316651:F49L	F	+	3	2	IPO11	61774575	0.967000	0.33354	1.000000	0.80357	0.996000	0.88848	0.155000	0.16362	0.239000	0.21243	0.655000	0.94253	TTC		0.313	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		3	72	1	0	2.56e-06	1	2.65956e-06	3	72				
CIITA	4261	broad.mit.edu	37	16	11001311	11001311	+	Silent	SNP	C	C	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:11001311C>T	ENST00000324288.8	+	11	2095	c.1962C>T	c.(1960-1962)ccC>ccT	p.P654P	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	654	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACAGCCCCCCCGGGGCCCTGG	0.682			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(1960-1962)ccC>ccT		class II, major histocompatibility complex, transactivator							18.0	20.0	19.0					16																	11001311		2182	4275	6457	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11001311C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1962C>T	16.37:g.11001311C>T						CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	p.P654P	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			11	2095	+			654			NACHT.		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.1962C>T	CCDS10544.1																																																																																				0.682	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		29	41	0	0	0	1	0	29	41				
ASCC2	84164	broad.mit.edu	37	22	30189476	30189476	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr22:30189476G>T	ENST00000397771.2	-	18	1969	c.1792C>A	c.(1792-1794)Cca>Aca	p.P598T	ASCC2_ENST00000307790.3_Missense_Mutation_p.P598T|ASCC2_ENST00000542393.1_Missense_Mutation_p.P522T			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	598					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGCTGCAGTGGCACCTGCAAT	0.612																																						ENST00000397771.2																			0				endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1792-1794)Cca>Aca		activating signal cointegrator 1 complex subunit 2							63.0	52.0	56.0					22																	30189476		2203	4300	6503	SO:0001583	missense	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30189476G>T	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1792C>A	22.37:g.30189476G>T	ENSP00000380877:p.Pro598Thr					ASCC2_ENST00000542393.1_Missense_Mutation_p.P522T|ASCC2_ENST00000307790.3_Missense_Mutation_p.P598T	p.P598T			Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		18	1969	-			598					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	c.1792C>A	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	g	6.453	0.451739	0.12223	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.08102	3.13;3.13;3.13	5.15	4.15	0.48705	.	0.299519	0.37178	N	0.002217	T	0.07818	0.0196	L	0.40543	1.245	0.36145	D	0.847057	B;B	0.11235	0.004;0.0	B;B	0.14578	0.011;0.001	T	0.18713	-1.0328	10	0.14656	T	0.56	-10.937	12.8138	0.57654	0.0:0.0:0.8365:0.1635	.	522;598	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	T	598;598;522	ENSP00000305502:P598T;ENSP00000380877:P598T;ENSP00000437570:P522T	ENSP00000305502:P598T	P	-	1	0	ASCC2	28519476	1.000000	0.71417	0.967000	0.41034	0.056000	0.15407	2.107000	0.41844	1.427000	0.47276	-0.121000	0.15023	CCA		0.612	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		18	28	1	0	2.39187e-15	1	2.58543e-15	18	28				
TMC2	117532	broad.mit.edu	37	20	2592911	2592911	+	Silent	SNP	C	C	T	rs144876435		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr20:2592911C>T	ENST00000358864.1	+	13	1683	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	556					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTGGTTGGAACGAGAGTGTCC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		16762	0.001		0.0	False		,,,				2504	0.0					ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1666-1668)aaC>aaT		transmembrane channel-like 2		C		4,4402	8.1+/-20.4	0,4,2199	128.0	115.0	119.0		1668	-8.0	0.3	20	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	TMC2	NM_080751.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		556/907	2592911	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	117532					integral to membrane		g.chr20:2592911C>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1668C>T	20.37:g.2592911C>T						TMC2_ENST00000496948.1_3'UTR	p.N556N	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			13	1683	+			556					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	c.1668C>T	CCDS13029.2																																																																																				0.498	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			114	175	0	0	0	1	0	114	175				
CTNNA1	1495	broad.mit.edu	37	5	138253483	138253483	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:138253483A>G	ENST00000302763.7	+	11	1532	c.1442A>G	c.(1441-1443)cAa>cGa	p.Q481R	CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000540387.1_Missense_Mutation_p.Q111R|CTNNA1_ENST00000355078.5_Missense_Mutation_p.Q378R|CTNNA1_ENST00000518825.1_Missense_Mutation_p.Q481R	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	481					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAACTGGCCCAAGAGAACATG	0.398																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(1441-1443)cAa>cGa		catenin (cadherin-associated protein), alpha 1, 102kDa							184.0	190.0	188.0					5																	138253483		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138253483A>G	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1442A>G	5.37:g.138253483A>G	ENSP00000304669:p.Gln481Arg					CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.Q481R|CTNNA1_ENST00000355078.5_Missense_Mutation_p.Q378R|CTNNA1_ENST00000540387.1_Missense_Mutation_p.Q111R	p.Q481R	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		11	1532	+			481					Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.1442A>G	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781572	0.49891	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000517533;ENST00000523685;ENST00000540387	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.12	5.12	0.69794	.	0.060299	0.64402	D	0.000002	T	0.39226	0.1070	L	0.43152	1.355	0.80722	D	1	B;B;B	0.25809	0.031;0.008;0.135	B;B;B	0.35510	0.062;0.028;0.204	T	0.17018	-1.0383	10	0.14656	T	0.56	-8.4299	14.5726	0.68220	1.0:0.0:0.0:0.0	.	481;358;481	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	R	378;481;481;466;481;111;111;111	ENSP00000347190:Q378R;ENSP00000304669:Q481R;ENSP00000427821:Q481R;ENSP00000431118:Q111R;ENSP00000430240:Q111R;ENSP00000438476:Q111R	ENSP00000304669:Q481R	Q	+	2	0	CTNNA1	138281382	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.408000	0.80041	1.929000	0.55896	0.528000	0.53228	CAA		0.398	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		6	660	0	0	0	1	0	6	660				
CAAP1	79886	broad.mit.edu	37	9	26842367	26842367	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:26842367C>G	ENST00000333916.5	-	6	1106	c.1018G>C	c.(1018-1020)Gaa>Caa	p.E340Q	CAAP1_ENST00000520187.1_3'UTR|CAAP1_ENST00000535437.1_Missense_Mutation_p.E195Q	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CAAP1_HUMAN	caspase activity and apoptosis inhibitor 1	340					apoptotic process (GO:0006915)												ATCTCAAGTTCTAGCAGCTCC	0.458																																						ENST00000333916.5																			0											c.(1018-1020)Gaa>Caa		caspase activity and apoptosis inhibitor 1							103.0	98.0	100.0					9																	26842367		2203	4300	6503	SO:0001583	missense	79886							g.chr9:26842367C>G	BC014658	CCDS6516.1	9p21.2	2012-04-20	2012-04-20	2012-04-20	ENSG00000120159	ENSG00000120159			25834	protein-coding gene	gene with protein product	"""conserved anti-apoptotic protein"""		"""chromosome 9 open reading frame 82"""	C9orf82		21980415	Standard	NM_024828		Approved	FLJ13657, CAAP	uc003zqc.3	Q9H8G2	OTTHUMG00000019706	ENST00000333916.5:c.1018G>C	9.37:g.26842367C>G	ENSP00000369431:p.Glu340Gln					CAAP1_ENST00000535437.1_Missense_Mutation_p.E195Q|CAAP1_ENST00000520187.1_3'UTR	p.E340Q	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CI082_HUMAN			6	1106	-			340					B4DWT4|D3DRK4|Q5VY32|Q6IPE6|Q96C59	Missense_Mutation	SNP	ENST00000333916.5	37	c.1018G>C	CCDS6516.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357086	0.82243	.	.	ENSG00000120159	ENST00000333916;ENST00000535437	T;T	0.71103	-0.54;-0.46	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.84092	0.5396	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.84690	0.0722	10	0.87932	D	0	-24.1567	20.0114	0.97452	0.0:1.0:0.0:0.0	.	340	Q9H8G2	CI082_HUMAN	Q	340;195	ENSP00000369431:E340Q;ENSP00000444885:E195Q	ENSP00000369431:E340Q	E	-	1	0	C9orf82	26832367	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.672000	0.74477	2.732000	0.93576	0.591000	0.81541	GAA		0.458	CAAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051954.1	NM_024828		22	154	0	0	0	1	0	22	154				
CRCP	27297	broad.mit.edu	37	7	65579857	65579857	+	5'UTR	SNP	C	C	G			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:65579857C>G	ENST00000395326.3	+	0	266				CRCP_ENST00000338592.5_5'UTR|CRCP_ENST00000431089.2_Missense_Mutation_p.S14R|CRCP_ENST00000398684.2_5'UTR|AC068533.7_ENST00000450043.1_Intron	NM_014478.4	NP_055293.1	O75575	RPC9_HUMAN	CGRP receptor component						defense response to virus (GO:0051607)|innate immune response (GO:0045087)|neuropeptide signaling pathway (GO:0007218)|transcription from RNA polymerase III promoter (GO:0006383)	acrosomal vesicle (GO:0001669)|DNA polymerase III complex (GO:0009360)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcitonin gene-related polypeptide receptor activity (GO:0001635)|DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)			cervix(1)|kidney(1)|lung(4)	6						GCGCGCGGAGCTGGCACCTTG	0.682																																						ENST00000431089.2																			0				cervix(1)|kidney(1)|lung(4)	6						c.(40-42)agC>agG		CGRP receptor component							47.0	46.0	46.0					7																	65579857		692	1591	2283	SO:0001623	5_prime_UTR_variant	27297				acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding	g.chr7:65579857C>G	AF073792	CCDS5532.1, CCDS47599.1, CCDS47600.1, CCDS55116.1	7q11.1	2009-01-14			ENSG00000241258	ENSG00000241258			17888	protein-coding gene	gene with protein product	"""calcitonin gene-related peptide-receptor component protein"""	606121				8622957, 10067875, 12482973	Standard	NM_014478		Approved	CGRP-RCP, RCP, RCP9	uc011kdw.2	O75575	OTTHUMG00000129519	ENST00000395326.3:c.-93C>G	7.37:g.65579857C>G						CRCP_ENST00000398684.2_5'UTR|CRCP_ENST00000338592.5_5'UTR|AC068533.7_ENST00000450043.1_Intron|CRCP_ENST00000395326.3_5'UTR	p.S14R	NM_001142414.1	NP_001135886.1	O75575	RPC9_HUMAN			1	45	+			0					A8MUZ4|A8MW23|B2R4H4|B4E198|Q3KRA3|Q5HYF1|Q8IXL4	Missense_Mutation	SNP	ENST00000395326.3	37	c.42C>G	CCDS5532.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946534	0.34377	.	.	ENSG00000241258	ENST00000431089	.	.	.	2.84	-1.79	0.07932	.	.	.	.	.	T	0.16896	0.0406	.	.	.	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.22556	-1.0213	7	0.25106	T	0.35	.	1.4051	0.02279	0.3716:0.3236:0.1828:0.122	.	14	B4E198	.	R	14	.	ENSP00000388653:S14R	S	+	3	2	CRCP	65217292	0.000000	0.05858	0.000000	0.03702	0.445000	0.32107	-0.828000	0.04419	-0.418000	0.07450	0.393000	0.25936	AGC		0.682	CRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251697.2	NM_014478		41	60	0	0	0	0.870114	0	41	60				
KIAA1324	57535	broad.mit.edu	37	1	109740267	109740267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:109740267C>T	ENST00000369939.3	+	16	2476	c.2293C>T	c.(2293-2295)Cga>Tga	p.R765*	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Nonsense_Mutation_p.R678*	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	765					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CCTTGCTGATCGACTTATTGG	0.527																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2293-2295)Cga>Tga		KIAA1324							42.0	36.0	38.0					1																	109740267		2203	4300	6503	SO:0001587	stop_gained	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109740267C>T	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2293C>T	1.37:g.109740267C>T	ENSP00000358955:p.Arg765*					KIAA1324_ENST00000529753.1_Nonsense_Mutation_p.R678*|KIAA1324_ENST00000369938.1_3'UTR	p.R765*	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	16	2476	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	765					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Nonsense_Mutation	SNP	ENST00000369939.3	37	c.2293C>T	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	38	7.185109	0.98121	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	.	.	.	6.08	5.16	0.70880	.	0.510190	0.21770	N	0.069377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-7.4744	15.905	0.79419	0.1362:0.8638:0.0:0.0	.	.	.	.	X	765;715;678	.	ENSP00000358955:R765X	R	+	1	2	KIAA1324	109541790	0.012000	0.17670	0.649000	0.29536	0.820000	0.46376	0.905000	0.28504	1.560000	0.49568	0.655000	0.94253	CGA		0.527	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		8	28	0	0	0	0.307466	0	8	28				
RORC	6097	broad.mit.edu	37	1	151801927	151801927	+	Silent	SNP	C	C	A			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:151801927C>A	ENST00000318247.6	-	2	155	c.48G>T	c.(46-48)ctG>ctT	p.L16L	RORC_ENST00000392697.3_Silent_p.L70L	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	16	Modulating. {ECO:0000255}.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTTTGCAGCCAGCAGCTCTG	0.537																																						ENST00000392697.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(208-210)ctG>ctT		RAR-related orphan receptor C							112.0	114.0	113.0					1																	151801927		2203	4300	6503	SO:0001819	synonymous_variant	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151801927C>A	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.48G>T	1.37:g.151801927C>A						RORC_ENST00000318247.6_Silent_p.L16L	p.L70L			P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	238	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		16					Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	ENST00000318247.6	37	c.210G>T	CCDS1004.1																																																																																				0.537	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			8	126	1	0	5.18039e-06	0.278610	5.51824e-06	8	126				
FDXR	2232	broad.mit.edu	37	17	72859347	72859347	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr17:72859347A>C	ENST00000293195.5	-	11	1274	c.1196T>G	c.(1195-1197)gTg>gGg	p.V399G	FDXR_ENST00000413947.2_Missense_Mutation_p.V430G|FDXR_ENST00000581530.1_Missense_Mutation_p.V405G|FDXR_ENST00000583917.1_Missense_Mutation_p.V371G|FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000582944.1_Missense_Mutation_p.V391G|FDXR_ENST00000420580.2_Missense_Mutation_p.V359G|FDXR_ENST00000442102.2_Missense_Mutation_p.V442G|FDXR_ENST00000455107.2_Nonstop_Mutation_p.*382G|FDXR_ENST00000544854.1_Missense_Mutation_p.V347G|GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_5'Flank	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	399					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	TCCTCTCTTCACCCAGCCGCT	0.597																																						ENST00000455107.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(1144-1146)Tga>Gga		ferredoxin reductase																																				SO:0001583	missense	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72859347A>C	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.1196T>G	17.37:g.72859347A>C	ENSP00000293195:p.Val399Gly					FDXR_ENST00000293195.5_Missense_Mutation_p.V399G|FDXR_ENST00000442102.2_Missense_Mutation_p.V442G|FDXR_ENST00000582944.1_Missense_Mutation_p.V391G|FDXR_ENST00000544854.1_Missense_Mutation_p.V347G|FDXR_ENST00000413947.2_Missense_Mutation_p.V430G|FDXR_ENST00000583917.1_Missense_Mutation_p.V371G|FDXR_ENST00000581530.1_Missense_Mutation_p.V405G|FDXR_ENST00000420580.2_Missense_Mutation_p.V359G	p.*382G			P22570	ADRO_HUMAN			11	1560	-	all_lung(278;0.172)|Lung NSC(278;0.207)		0					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Nonstop_Mutation	SNP	ENST00000293195.5	37	c.1144T>G	CCDS58593.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.40|18.40	3.616506|3.616506	0.66672|0.66672	.|.	.|.	ENSG00000161513|ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000442102;ENST00000413947|ENST00000455107	T;T;T;T|.	0.23754|.	1.89;2.77;1.9;1.9|.	4.88|4.88	4.88|4.88	0.63580|0.63580	NAD(P)-binding domain (1);|.	0.139733|.	0.48286|.	D|.	0.000185|.	T|.	0.75324|.	0.3834|.	M|M	0.92649|0.92649	3.33|3.33	0.09310|0.09310	N|N	1|1	D;D;D;D;D;D;P;D;P;D|.	0.89917|.	0.999;0.997;0.999;1.0;0.998;0.998;0.951;1.0;0.951;0.999|.	D;D;D;D;P;D;P;D;P;D|.	0.75484|.	0.968;0.974;0.963;0.986;0.889;0.954;0.89;0.986;0.89;0.98|.	T|.	0.71101|.	-0.4690|.	10|.	0.87932|.	D|.	0|.	-17.3724|-17.3724	14.1578|14.1578	0.65428|0.65428	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	359;442;430;397;347;430;399;391;399;405|.	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2|.	.;.;.;.;.;.;.;.;ADRO_HUMAN;.|.	G|G	359;347;405;442;430|382	ENSP00000414172:V359G;ENSP00000445432:V347G;ENSP00000416515:V442G;ENSP00000408595:V430G|.	ENSP00000293195:V405G|.	V|X	-|-	2|1	0|0	FDXR|FDXR	70370942|70370942	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	8.432000|8.432000	0.90288|0.90288	1.833000|1.833000	0.53350|0.53350	0.379000|0.379000	0.24179|0.24179	GTG|TGA		0.597	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		4	11	0	0	0	0.278610	0	4	11				
CCKBR	887	broad.mit.edu	37	11	6292065	6292065	+	Intron	SNP	C	C	A	rs1800843	byFrequency	TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:6292065C>A	ENST00000334619.2	+	4	1004				CCKBR_ENST00000532396.1_Intron|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525462.1_Silent_p.G281G	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor						cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AAAATCTGGGCGAGGCGGAGC	0.622													A|||	774	0.154553	0.2315	0.1628	5008	,	,		17244	0.0228		0.1839	False		,,,				2504	0.1503					ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(841-843)ggC>ggA		cholecystokinin B receptor	Pentagastrin(DB00183)	A		927,3475	731.0+/-410.2	93,741,1367	28.0	29.0	29.0			-3.4	0.0	11	dbSNP_89	29	1679,6913	731.6+/-406.8	145,1389,2762	no	intron	CCKBR	NM_176875.2		238,2130,4129	AA,AC,CC		19.5414,21.0586,20.0554			6292065	2606,10388	2201	4296	6497	SO:0001627	intron_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6292065C>A	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.811+32C>A	11.37:g.6292065C>A						CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000334619.2_Intron|CCKBR_ENST00000532396.1_Intron	p.G281G			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	846	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	241					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	c.843C>A	CCDS7761.1																																																																																				0.622	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		3	42	1	0	6.4e-05	0.115264	6.67234e-05	3	42				
SSTR5	6755	broad.mit.edu	37	16	1129327	1129327	+	Silent	SNP	G	G	A	rs141899937		TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:1129327G>A	ENST00000293897.4	+	1	547	c.459G>A	c.(457-459)ccG>ccA	p.P153P	SSTR5_ENST00000562758.1_Silent_p.P153P|SSTR5_ENST00000397547.2_Silent_p.P153P|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	153					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.P153P(1)		endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GGCGCCGCCCGCGTGTGGCCA	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		11905	0.0		0.0	False		,,,				2504	0.001					ENST00000293897.4																			1	Substitution - coding silent(1)	p.P153P(1)	lung(1)	endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(457-459)ccG>ccA		somatostatin receptor 5	Octreotide(DB00104)	G	,	1,4353		0,1,2176	15.0	17.0	16.0		459,459	-9.7	0.0	16	dbSNP_134	16	0,8530		0,0,4265	no	coding-synonymous,coding-synonymous	SSTR5	NM_001053.3,NM_001172560.1	,	0,1,6441	AA,AG,GG		0.0,0.023,0.0078	,	153/365,153/365	1129327	1,12883	2177	4265	6442	SO:0001819	synonymous_variant	6755				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129327G>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.459G>A	16.37:g.1129327G>A						SSTR5_ENST00000562758.1_Silent_p.P153P|SSTR5_ENST00000397547.2_Silent_p.P153P	p.P153P	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	547	+		Hepatocellular(780;0.00369)	153					P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	c.459G>A	CCDS10429.1																																																																																				0.687	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			13	7	0	0	0	0.500413	0	13	7				
SLC45A1	50651	broad.mit.edu	37	1	8399610	8399610	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:8399610A>G	ENST00000471889.1	+	8	2217	c.1832A>G	c.(1831-1833)tAt>tGt	p.Y611C	SLC45A1_ENST00000377479.2_Missense_Mutation_p.Y645C|SLC45A1_ENST00000289877.8_Missense_Mutation_p.Y611C			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	611					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TTCATCGCCTATCTCGCCTTC	0.607																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(1831-1833)tAt>tGt		solute carrier family 45, member 1							157.0	138.0	145.0					1																	8399610		2203	4300	6503	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8399610A>G	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1832A>G	1.37:g.8399610A>G	ENSP00000418096:p.Tyr611Cys					SLC45A1_ENST00000289877.8_Missense_Mutation_p.Y611C|SLC45A1_ENST00000377479.2_Missense_Mutation_p.Y645C	p.Y611C			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	8	2217	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	611					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.1832A>G	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273035	0.80580	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.92699	-3.09;-3.09;-3.09	5.22	5.22	0.72569	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95592	0.8567	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95237	0.8348	10	0.42905	T	0.14	-16.5387	14.3011	0.66352	1.0:0.0:0.0:0.0	.	611	Q9Y2W3	S45A1_HUMAN	C	611;645;611	ENSP00000418096:Y611C;ENSP00000366699:Y645C;ENSP00000289877:Y611C	ENSP00000289877:Y611C	Y	+	2	0	SLC45A1	8322197	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	8.818000	0.91991	1.965000	0.57142	0.454000	0.30748	TAT		0.607	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			107	34	0	0	0	0.870114	0	107	34				
ALB	213	broad.mit.edu	37	4	74270115	74270115	+	Missense_Mutation	SNP	G	G	A	rs74821926		TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:74270115G>A	ENST00000295897.4	+	1	160	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	ALB_ENST00000401494.3_Missense_Mutation_p.R24Q|ALB_ENST00000503124.1_5'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.R24Q|ALB_ENST00000415165.2_Missense_Mutation_p.R24Q	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTGTTTCGTCGAGATGCACGT	0.363																																						ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	GRCh37	CM870084|CM890279|CM910022	ALB	M	rs74821926	c.(70-72)cGa>cAa		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						123.0	117.0	119.0					4																	74270115		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74270115G>A	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.71G>A	4.37:g.74270115G>A	ENSP00000295897:p.Arg24Gln					ALB_ENST00000509063.1_Missense_Mutation_p.R24Q|ALB_ENST00000401494.3_Missense_Mutation_p.R24Q|ALB_ENST00000503124.1_5'UTR|ALB_ENST00000415165.2_Missense_Mutation_p.R24Q	p.R24Q	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	160	+	Breast(15;0.00102)		24		R -> L (in Jaffna).|R -> P (in Takefu/Honolulu-1).|R -> Q (in Christchurch/Honolulu-2).	Albumin 1.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000295897.4	37	c.71G>A	CCDS3555.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848220	0.91277	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000415165;ENST00000329326;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.74315	-0.83;-0.83;-0.13;-0.83;0.22	5.55	5.55	0.83447	Serum albumin, N-terminal (2);	0.258639	0.29616	N	0.011657	D	0.84047	0.5386	L	0.58302	1.8	0.27001	N	0.964914	D;P;D;D	0.89917	0.995;0.789;1.0;1.0	P;B;D;D	0.69142	0.671;0.277;0.929;0.962	T	0.78112	-0.2331	10	0.87932	D	0	-14.4042	18.2357	0.89948	0.0:0.0:1.0:0.0	.	24;24;24;24	B7WNR0;C9JKR2;A6NBZ8;P02768	.;.;.;ALBU_HUMAN	Q	26;24;24;24;24;24;24	ENSP00000392541:R26Q;ENSP00000295897:R24Q;ENSP00000401820:R24Q;ENSP00000422784:R24Q;ENSP00000384695:R24Q	ENSP00000295897:R24Q	R	+	2	0	ALB	74488979	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.444000	0.66587	2.885000	0.99019	0.655000	0.94253	CGA		0.363	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477		72	106	0	0	0	0.870114	0	72	106				
PRR23B	389151	broad.mit.edu	37	3	138739488	138739488	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:138739488G>A	ENST00000329447.5	-	1	280	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	6										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGGGGCTGCGGGGCCGGCTG	0.721																																						ENST00000329447.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(16-18)Cgc>Tgc		proline rich 23B							2.0	3.0	3.0					3																	138739488		1363	3121	4484	SO:0001583	missense	389151							g.chr3:138739488G>A	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.16C>T	3.37:g.138739488G>A	ENSP00000328768:p.Arg6Cys					MRPS22_ENST00000495075.1_Intron	p.R6C	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN			1	280	-			6					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.16C>T	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806532	0.50421	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.15	3.15	0.36227	.	0.569959	0.14830	N	0.295915	T	0.64136	0.2571	L	0.54323	1.7	0.34200	D	0.673079	D	0.89917	1.0	D	0.72075	0.976	T	0.70364	-0.4892	9	0.48119	T	0.1	.	10.0141	0.42003	0.0:0.0:1.0:0.0	.	6	Q6ZRT6	PR23B_HUMAN	C	6	.	ENSP00000328768:R6C	R	-	1	0	PRR23B	140222178	0.005000	0.15991	0.978000	0.43139	0.169000	0.22640	1.088000	0.30877	2.056000	0.61249	0.484000	0.47621	CGC		0.721	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		6	3	0	0	0	0.248553	0	6	3				
TGM5	9333	broad.mit.edu	37	15	43544964	43544964	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:43544964C>T	ENST00000220420.5	-	6	862	c.855G>A	c.(853-855)atG>atA	p.M285I	TGM5_ENST00000349114.4_Missense_Mutation_p.M203I	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	285					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TACCTGTGCACATGACGGCAG	0.582																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(853-855)atG>atA		transglutaminase 5	L-Glutamine(DB00130)						70.0	69.0	69.0					15																	43544964		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43544964C>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.855G>A	15.37:g.43544964C>T	ENSP00000220420:p.Met285Ile					TGM5_ENST00000349114.4_Missense_Mutation_p.M203I	p.M285I	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	6	862	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	285					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.855G>A	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706506	0.68615	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.88664	-2.41;-2.41	4.88	3.96	0.45880	Transglutaminase, conserved site (1);Transglutaminase-like (2);	0.044145	0.85682	D	0.000000	D	0.93083	0.7798	M	0.86178	2.8	0.38406	D	0.945805	D;P	0.58268	0.982;0.664	P;P	0.58577	0.841;0.527	D	0.93969	0.7247	10	0.62326	D	0.03	-17.1478	11.3248	0.49442	0.0:0.9095:0.0:0.0905	.	203;285	O43548-2;O43548	.;TGM5_HUMAN	I	285;203;284	ENSP00000220420:M285I;ENSP00000220419:M203I	ENSP00000220420:M285I	M	-	3	0	TGM5	41332256	0.989000	0.36119	1.000000	0.80357	0.977000	0.68977	0.653000	0.24902	1.178000	0.42870	0.655000	0.94253	ATG		0.582	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		69	91	0	0	0	0.870114	0	69	91				
CD109	135228	broad.mit.edu	37	6	74440152	74440152	+	Missense_Mutation	SNP	G	G	A	rs111900767		TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:74440152G>A	ENST00000287097.5	+	4	474	c.362G>A	c.(361-363)cGc>cAc	p.R121H	CD109_ENST00000422508.2_Intron|CD109_ENST00000437994.2_Missense_Mutation_p.R121H			Q6YHK3	CD109_HUMAN	CD109 molecule	121					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AATAGTACCCGCTTATCATTT	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		18420	0.0		0.0	False		,,,				2504	0.001					ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(361-363)cGc>cAc		CD109 molecule							131.0	127.0	128.0					6																	74440152		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74440152G>A	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.362G>A	6.37:g.74440152G>A	ENSP00000287097:p.Arg121His					CD109_ENST00000287097.5_Missense_Mutation_p.R121H|CD109_ENST00000422508.2_Intron	p.R121H	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			4	793	+			121					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.362G>A	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	5.860	0.342880	0.11069	.	.	ENSG00000156535	ENST00000437994;ENST00000287097	T;T	0.24350	1.86;1.86	4.28	-2.17	0.07059	.	1.017200	0.07823	N	0.960159	T	0.03390	0.0098	N	0.14661	0.345	0.09310	N	0.999997	B;B;B	0.16396	0.017;0.004;0.001	B;B;B	0.13407	0.005;0.009;0.002	T	0.41106	-0.9527	10	0.39692	T	0.17	.	0.7748	0.01030	0.2431:0.3321:0.1914:0.2334	.	121;121;121	Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	H	121	ENSP00000388062:R121H;ENSP00000287097:R121H	ENSP00000287097:R121H	R	+	2	0	CD109	74496873	0.001000	0.12720	0.207000	0.23584	0.211000	0.24417	-0.075000	0.11431	-0.338000	0.08413	-0.150000	0.13652	CGC		0.418	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		84	28	0	0	0	0.870114	0	84	28				
OR6Q1	219952	broad.mit.edu	37	11	57798663	57798663	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:57798663T>G	ENST00000302622.3	+	1	262	c.239T>G	c.(238-240)gTg>gGg	p.V80G	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TCTGTTACAGTGCCCAAGATG	0.473																																						ENST00000302622.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(238-240)gTg>gGg		olfactory receptor, family 6, subfamily Q, member 1							175.0	167.0	170.0					11																	57798663		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57798663T>G	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.239T>G	11.37:g.57798663T>G	ENSP00000307734:p.Val80Gly					OR9Q1_ENST00000335397.3_Intron	p.V80G	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN			1	262	+		Breast(21;0.0707)|all_epithelial(135;0.142)	80					B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.239T>G	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.103717	0.37145	.	.	ENSG00000172381	ENST00000302622	T	0.05139	3.49	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32918	N	0.005491	T	0.11793	0.0287	M	0.77616	2.38	0.50313	D	0.999862	B	0.28667	0.219	B	0.28709	0.093	T	0.01578	-1.1320	10	0.62326	D	0.03	.	13.3514	0.60603	0.0:0.0:0.0:1.0	.	80	Q8NGQ2	OR6Q1_HUMAN	G	80	ENSP00000307734:V80G	ENSP00000307734:V80G	V	+	2	0	OR6Q1	57555239	0.080000	0.21391	0.972000	0.41901	0.662000	0.39071	0.751000	0.26348	1.805000	0.52779	0.523000	0.50628	GTG		0.473	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		154	55	0	0	0	0.870114	0	154	55				
CAMTA1	23261	broad.mit.edu	37	1	7797351	7797351	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:7797351G>A	ENST00000303635.7	+	15	3586	c.3379G>A	c.(3379-3381)Gtc>Atc	p.V1127I	CAMTA1_ENST00000439411.2_Missense_Mutation_p.V1127I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGAAGCTGCCGTCGTGCTGTA	0.557			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(3379-3381)Gtc>Atc		calmodulin binding transcription activator 1							101.0	104.0	103.0					1																	7797351		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7797351G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3379G>A	1.37:g.7797351G>A	ENSP00000306522:p.Val1127Ile					CAMTA1_ENST00000439411.2_Missense_Mutation_p.V1127I	p.V1127I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	15	3586	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1127					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.3379G>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136969	0.56936	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	T;T	0.33438	1.41;1.41	5.91	4.99	0.66335	Ankyrin repeat-containing domain (3);	0.058965	0.64402	D	0.000003	T	0.20333	0.0489	N	0.19112	0.55	0.53005	D	0.99996	B;B;B;B	0.28850	0.094;0.095;0.225;0.046	B;B;B;B	0.19666	0.026;0.012;0.026;0.011	T	0.03587	-1.1022	10	0.33940	T	0.23	-20.0504	15.3596	0.74460	0.0673:0.0:0.9327:0.0	.	1127;214;83;1127	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;.;CMTA1_HUMAN	I	1127;1127;214;83	ENSP00000306522:V1127I;ENSP00000402561:V1127I	ENSP00000306522:V1127I	V	+	1	0	CAMTA1	7719938	1.000000	0.71417	0.781000	0.31783	0.979000	0.70002	5.673000	0.68109	2.793000	0.96121	0.655000	0.94253	GTC		0.557	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		6	163	0	0	0	0.278610	0	6	163				
PLXNA4	91584	broad.mit.edu	37	7	131913110	131913110	+	Missense_Mutation	SNP	C	C	T	rs143690954		TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:131913110C>T	ENST00000359827.3	-	6	2685	c.1723G>A	c.(1723-1725)Gtg>Atg	p.V575M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V575M			Q9HCM2	PLXA4_HUMAN	plexin A4	575					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						CTTACCAGCACGTTGTACTGA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		16874	0.001		0.0	False		,,,				2504	0.0					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.(1723-1725)Gtg>Atg		plexin A4							65.0	68.0	67.0					7																	131913110		1971	4149	6120	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131913110C>T	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.1723G>A	7.37:g.131913110C>T	ENSP00000352882:p.Val575Met					PLXNA4_ENST00000321063.4_Missense_Mutation_p.V575M	p.V575M			Q9HCM2	PLXA4_HUMAN			6	2685	-			575					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1723G>A	CCDS43646.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	31	5.102977	0.94245	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.01059	5.39;5.39	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.02929	0.0087	L	0.58510	1.815	0.80722	D	1	D	0.53885	0.963	P	0.45195	0.473	T	0.55897	-0.8068	10	0.51188	T	0.08	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	575	Q9HCM2	PLXA4_HUMAN	M	575	ENSP00000323194:V575M;ENSP00000352882:V575M	ENSP00000323194:V575M	V	-	1	0	PLXNA4	131563650	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.946000	0.70234	2.793000	0.96121	0.655000	0.94253	GTG		0.587	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		35	46	0	0	0	0.769981	0	35	46				
ITIH2	3698	broad.mit.edu	37	10	7751105	7751105	+	Missense_Mutation	SNP	G	G	A	rs142420238		TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr10:7751105G>A	ENST00000358415.4	+	4	479	c.313G>A	c.(313-315)Gtg>Atg	p.V105M	ITIH2_ENST00000379587.4_Missense_Mutation_p.V94M|ITIH2_ENST00000480387.1_Intron	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	105	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCAGAATGTCGTGTTTGATGT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		20035	0.001		0.0	False		,,,				2504	0.0					ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(313-315)Gtg>Atg		inter-alpha-trypsin inhibitor heavy chain 2		G	MET/VAL	0,4406		0,0,2203	137.0	127.0	131.0		313	5.8	0.8	10	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITIH2	NM_002216.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	105/947	7751105	1,13005	2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7751105G>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.313G>A	10.37:g.7751105G>A	ENSP00000351190:p.Val105Met					ITIH2_ENST00000480387.1_Intron|ITIH2_ENST00000379587.4_Missense_Mutation_p.V94M	p.V105M	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			4	479	+			105			VIT.		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.313G>A	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782725	0.90282	0.0	1.16E-4	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.22743	1.94;1.94;1.94	5.85	5.85	0.93711	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.176974	0.49916	D	0.000135	T	0.49098	0.1537	M	0.78637	2.42	0.44562	D	0.997528	D	0.69078	0.997	D	0.63877	0.919	T	0.44236	-0.9341	10	0.56958	D	0.05	-22.4983	20.1663	0.98152	0.0:0.0:1.0:0.0	.	105	P19823	ITIH2_HUMAN	M	105;80;94	ENSP00000351190:V105M;ENSP00000388826:V80M;ENSP00000368906:V94M	ENSP00000351190:V105M	V	+	1	0	ITIH2	7791111	1.000000	0.71417	0.840000	0.33206	0.956000	0.61745	4.656000	0.61483	2.773000	0.95371	0.585000	0.79938	GTG		0.443	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		25	65	0	0	0	0.693898	0	25	65				
IL12RB1	3594	broad.mit.edu	37	19	18173055	18173055	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:18173055C>T	ENST00000600835.2	-	15	1949	c.1651G>A	c.(1651-1653)Gcc>Acc	p.A551T	IL12RB1_ENST00000593993.2_Missense_Mutation_p.A551T			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	551					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCCAGGGAGGCGAAGAAGATG	0.572																																						ENST00000600835.1																			0				endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(1651-1653)Gcc>Acc		interleukin 12 receptor, beta 1							93.0	98.0	97.0					19																	18173055		2008	4175	6183	SO:0001583	missense	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18173055C>T	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1651G>A	19.37:g.18173055C>T	ENSP00000470788:p.Ala551Thr					IL12RB1_ENST00000430026.2_Missense_Mutation_p.A551T|IL12RB1_ENST00000593993.1_Missense_Mutation_p.A551T	p.A551T			P42701	I12R1_HUMAN			15	1954	-			551					A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	c.1651G>A	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295366	0.40594	.	.	ENSG00000096996	ENST00000430026	D	0.82526	-1.62	2.49	0.234	0.15390	.	1.214380	0.06327	N	0.705434	T	0.80732	0.4679	L	0.50333	1.59	0.09310	N	1	D;D	0.60160	0.987;0.977	P;P	0.51016	0.656;0.454	T	0.66212	-0.5980	10	0.26408	T	0.33	-1.7014	3.7268	0.08477	0.0:0.5885:0.2579:0.1536	.	551;551	P42701-2;P42701	.;I12R1_HUMAN	T	551	ENSP00000403103:A551T	ENSP00000403103:A551T	A	-	1	0	IL12RB1	18034055	0.000000	0.05858	0.000000	0.03702	0.860000	0.49131	-0.057000	0.11768	0.148000	0.19059	0.313000	0.20887	GCC		0.572	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			10	92	0	0	0	0.387290	0	10	92				
PCDHGB6	56100	broad.mit.edu	37	5	140789895	140789895	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:140789895T>A	ENST00000520790.1	+	1	2126	c.2126T>A	c.(2125-2127)cTg>cAg	p.L709Q	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	709					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGTGATTCTGGCCATTGCC	0.587																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(2125-2127)cTg>cAg									150.0	157.0	154.0					5																	140789895		2091	4222	6313	SO:0001583	missense	56100							g.chr5:140789895T>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.2126T>A	5.37:g.140789895T>A	ENSP00000428603:p.Leu709Gln					PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.L709Q	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2126	+								Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.2126T>A	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	t	16.09	3.025034	0.54683	.	.	ENSG00000253305	ENST00000520790	T	0.27256	1.68	5.18	5.18	0.71444	.	.	.	.	.	T	0.59810	0.2221	H	0.94847	3.59	0.09310	N	1	P;D	0.76494	0.85;0.999	P;D	0.75020	0.507;0.985	T	0.60419	-0.7267	9	0.87932	D	0	.	9.757	0.40508	0.0:0.0805:0.0:0.9195	.	709;709	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	Q	709	ENSP00000428603:L709Q	ENSP00000428603:L709Q	L	+	2	0	PCDHGB6	140770079	0.023000	0.18921	0.992000	0.48379	0.600000	0.36913	2.213000	0.42844	1.956000	0.56807	0.460000	0.39030	CTG		0.587	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		98	113	0	0	0	0.870114	0	98	113				
C1QC	714	broad.mit.edu	37	1	22974251	22974251	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:22974251C>G	ENST00000374639.3	+	3	831	c.713C>G	c.(712-714)tCc>tGc	p.S238C	C1QC_ENST00000374640.4_Missense_Mutation_p.S238C|C1QC_ENST00000374637.1_Missense_Mutation_p.S238C	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	238	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCGTCTTCTCCGGCTTCCTG	0.642																																					Ovarian(26;671 750 8290 29071 43278)	ENST00000374639.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15						c.(712-714)tCc>tGc		complement component 1, q subcomponent, C chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						82.0	83.0	83.0					1																	22974251		2203	4300	6503	SO:0001583	missense	714				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		g.chr1:22974251C>G	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.713C>G	1.37:g.22974251C>G	ENSP00000363770:p.Ser238Cys					C1QC_ENST00000374640.4_Missense_Mutation_p.S238C|C1QC_ENST00000374637.1_Missense_Mutation_p.S238C	p.S238C	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	3	831	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	238			C1q.		Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	ENST00000374639.3	37	c.713C>G	CCDS227.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552207	0.86127	.	.	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	T;T;T	0.79845	-1.31;-1.31;-1.31	4.79	4.79	0.61399	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.92443	0.7601	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94652	0.7840	10	0.87932	D	0	.	16.3983	0.83631	0.0:1.0:0.0:0.0	.	238	P02747	C1QC_HUMAN	C	238	ENSP00000363771:S238C;ENSP00000363770:S238C;ENSP00000363768:S238C	ENSP00000363768:S238C	S	+	2	0	C1QC	22846838	1.000000	0.71417	0.972000	0.41901	0.992000	0.81027	5.396000	0.66297	2.198000	0.70561	0.561000	0.74099	TCC		0.642	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		13	55	0	0	0	0.500413	0	13	55				
GTF3C2	2976	broad.mit.edu	37	2	27559290	27559290	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:27559290A>G	ENST00000359541.2	-	8	1559	c.1130T>C	c.(1129-1131)tTt>tCt	p.F377S	AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000585645.1_RNA|AC109828.1_ENST00000608473.1_RNA|AC109828.1_ENST00000416453.2_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000592265.1_RNA|AC109828.1_ENST00000589232.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.F377S|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000590754.1_RNA|AC109828.1_ENST00000585326.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	377					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATCGAGCTAAATCTAGAGAA	0.532																																						ENST00000359541.2																			0				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38						c.(1129-1131)tTt>tCt		general transcription factor IIIC, polypeptide 2, beta 110kDa							30.0	33.0	32.0					2																	27559290		2202	4300	6502	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27559290A>G	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1130T>C	2.37:g.27559290A>G	ENSP00000352536:p.Phe377Ser					AC109828.1_ENST00000592265.1_RNA|AC109828.1_ENST00000416453.2_RNA|AC109828.1_ENST00000585326.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.F377S	p.F377S			Q8WUA4	TF3C2_HUMAN			8	1559	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		377					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.1130T>C	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.611318	0.66558	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	T;T	0.79352	-1.26;-1.26	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.81884	0.4917	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.81865	-0.0736	10	0.42905	T	0.14	-16.0942	13.9181	0.63914	1.0:0.0:0.0:0.0	.	377;377;377	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	S	377	ENSP00000352536:F377S;ENSP00000264720:F377S	ENSP00000264720:F377S	F	-	2	0	GTF3C2	27412794	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	7.940000	0.87693	2.186000	0.69663	0.455000	0.32223	TTT		0.532	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			14	54	0	0	0	0.457914	0	14	54				
SIPA1L3	23094	broad.mit.edu	37	19	38692610	38692610	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:38692610C>T	ENST00000222345.6	+	20	5602	c.5093C>T	c.(5092-5094)cCg>cTg	p.P1698L	CTB-102L5.8_ENST00000598146.1_RNA|RN7SL663P_ENST00000578592.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1698					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGGGACCCCCGACCCCCAGG	0.647																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(5092-5094)cCg>cTg		signal-induced proliferation-associated 1 like 3							56.0	60.0	59.0					19																	38692610		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38692610C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.5093C>T	19.37:g.38692610C>T	ENSP00000222345:p.Pro1698Leu						p.P1698L	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		20	5602	+			1698					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.5093C>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	6.415	0.444639	0.12164	.	.	ENSG00000105738	ENST00000222345	T	0.28255	1.62	4.82	2.57	0.30868	.	0.830110	0.10805	N	0.632226	T	0.17534	0.0421	N	0.24115	0.695	0.30818	N	0.738114	B	0.29270	0.24	B	0.24701	0.055	T	0.25398	-1.0133	10	0.07813	T	0.8	-10.8889	9.6934	0.40143	0.393:0.607:0.0:0.0	.	1698	O60292	SI1L3_HUMAN	L	1698	ENSP00000222345:P1698L	ENSP00000222345:P1698L	P	+	2	0	SIPA1L3	43384450	0.594000	0.26849	0.977000	0.42913	0.951000	0.60555	1.461000	0.35255	0.373000	0.24621	0.561000	0.74099	CCG		0.647	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		49	87	0	0	0	0.870114	0	49	87				
ATP1A3	478	broad.mit.edu	37	19	42492233	42492233	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:42492233G>A	ENST00000302102.5	-	4	362	c.212C>T	c.(211-213)aCg>aTg	p.T71M	ATP1A3_ENST00000543770.1_Missense_Mutation_p.T82M|ATP1A3_ENST00000602133.1_Missense_Mutation_p.T41M|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000545399.1_Missense_Mutation_p.T84M	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	71					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGGCGGTGGCGTGAGTGCGTT	0.632																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(250-252)aCg>aTg		ATPase, Na+/K+ transporting, alpha 3 polypeptide							109.0	112.0	111.0					19																	42492233		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42492233G>A		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.212C>T	19.37:g.42492233G>A	ENSP00000302397:p.Thr71Met					ATP1A3_ENST00000302102.5_Missense_Mutation_p.T71M|ATP1A3_ENST00000602133.1_Missense_Mutation_p.T41M|ATP1A3_ENST00000543770.1_Missense_Mutation_p.T82M|ATP1A3_ENST00000468774.2_5'UTR	p.T84M	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			4	404	-			71					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.251C>T	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982885	0.53827	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770;ENST00000448429	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.09	4.09	0.47781	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92538	0.7630	H	0.98721	4.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.981;0.986;0.995;0.992	D	0.95233	0.8344	10	0.87932	D	0	.	14.1703	0.65506	0.0:0.0:1.0:0.0	.	84;82;71;71	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	M	71;71;84;41;82;84	ENSP00000302397:T71M;ENSP00000411503:T71M;ENSP00000444688:T84M;ENSP00000437577:T82M	ENSP00000302397:T71M	T	-	2	0	ATP1A3	47184073	1.000000	0.71417	0.907000	0.35723	0.049000	0.14656	9.808000	0.99193	2.010000	0.58986	0.491000	0.48974	ACG		0.632	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		95	126	0	0	0	0.870114	0	95	126				
ELFN2	114794	broad.mit.edu	37	22	37770867	37770867	+	Silent	SNP	G	G	A	rs149957183		TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr22:37770867G>A	ENST00000402918.2	-	3	1493	c.708C>T	c.(706-708)aaC>aaT	p.N236N	RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	236	LRRCT.				negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CGGTGATGGCGTTGAGGCTGT	0.677																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(706-708)aaC>aaT		extracellular leucine-rich repeat and fibronectin type III domain containing 2		G		0,4406		0,0,2203	33.0	43.0	40.0		708	-2.3	1.0	22	dbSNP_134	40	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ELFN2	NM_052906.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		236/821	37770867	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37770867G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.708C>T	22.37:g.37770867G>A						ELFN2_ENST00000349653.3_Silent_p.N236N|RP1-63G5.5_ENST00000430883.1_RNA	p.N236N	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	1493	-	Melanoma(58;0.0574)		236			LRRCT.		Q96PY3	Silent	SNP	ENST00000402918.2	37	c.708C>T	CCDS33642.1																																																																																				0.677	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		21	24	0	0	0	0.693898	0	21	24				
SAMD4B	55095	broad.mit.edu	37	19	39868378	39868378	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:39868378C>T	ENST00000314471.6	+	10	2393	c.1358C>T	c.(1357-1359)cCa>cTa	p.P453L	SAMD4B_ENST00000598913.1_Missense_Mutation_p.P453L|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCACCAGCTCCAGCTCCCACT	0.657																																						ENST00000314471.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15						c.(1357-1359)cCa>cTa		sterile alpha motif domain containing 4B							44.0	45.0	45.0					19																	39868378		2203	4300	6503	SO:0001583	missense	55095						protein binding	g.chr19:39868378C>T		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1358C>T	19.37:g.39868378C>T	ENSP00000317224:p.Pro453Leu					SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.P453L	p.P453L	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		10	2393	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		453					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.1358C>T	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	C	8.748	0.920575	0.17982	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	4.72	4.72	0.59763	.	0.532223	0.19871	N	0.104196	T	0.39886	0.1095	L	0.29908	0.895	0.49389	D	0.999789	B;B	0.26002	0.139;0.139	B;B	0.19666	0.026;0.026	T	0.18429	-1.0337	9	0.10111	T	0.7	.	10.2994	0.43644	0.1966:0.8034:0.0:0.0	.	453;453	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	L	453	.	ENSP00000317224:P453L	P	+	2	0	SAMD4B	44560218	0.027000	0.19231	0.950000	0.38849	0.272000	0.26649	0.630000	0.24553	2.449000	0.82847	0.467000	0.42956	CCA		0.657	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		46	80	0	0	0	0.870114	0	46	80				
RMDN1	51115	broad.mit.edu	37	8	87486540	87486540	+	Silent	SNP	A	A	G	rs542748747|rs529480556	byFrequency	TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr8:87486540A>G	ENST00000406452.3	-	10	1101	c.942T>C	c.(940-942)aaT>aaC	p.N314N	RMDN1_ENST00000430676.2_Silent_p.N284N|RMDN1_ENST00000519966.1_Silent_p.N271N|RMDN1_ENST00000523911.1_Intron	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	314						microtubule (GO:0005874)|mitochondrion (GO:0005739)											AAAGTTCTCAATTCTTCTCAC	0.303													a|||	2	0.000399361	0.0	0.0	5008	,	,		17496	0.002		0.0	False		,,,				2504	0.0					ENST00000406452.3																			0											c.(940-942)aaT>aaC		regulator of microtubule dynamics 1							65.0	70.0	68.0					8																	87486540		2202	4292	6494	SO:0001819	synonymous_variant	51115							g.chr8:87486540A>G	AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.942T>C	8.37:g.87486540A>G						RMDN1_ENST00000430676.2_Silent_p.N284N|RMDN1_ENST00000519966.1_Silent_p.N271N|RMDN1_ENST00000523911.1_Intron	p.N314N	NM_016033.2	NP_057117.2					10	1101	-								A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Silent	SNP	ENST00000406452.3	37	c.942T>C	CCDS34918.1																																																																																				0.303	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		65	96	0	0	0	0.870114	0	65	96				
RADIL	55698	broad.mit.edu	37	7	4841532	4841532	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:4841532G>A	ENST00000399583.3	-	12	2781	c.2594C>T	c.(2593-2595)cCg>cTg	p.P865L	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.P625L	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	865	Pro-rich.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGTACGCTCCGGGGCCACTTC	0.736																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2593-2595)cCg>cTg		Ras association and DIL domains							5.0	6.0	5.0					7																	4841532		1464	3462	4926	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4841532G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2594C>T	7.37:g.4841532G>A	ENSP00000382492:p.Pro865Leu					RADIL_ENST00000538469.1_Missense_Mutation_p.P625L|RADIL_ENST00000536091.1_3'UTR	p.P865L	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	12	2781	-		Ovarian(82;0.0175)	865			Pro-rich.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.2594C>T	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	G	9.039	0.989305	0.18966	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000538469	T;T	0.07444	3.28;3.19	4.94	-3.18	0.05186	.	1.192850	0.06368	N	0.712981	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.04013	0.0;0.001	T	0.44757	-0.9307	10	0.23891	T	0.37	-0.0211	0.781	0.01041	0.3056:0.1123:0.3173:0.2648	.	865;173	Q96JH8;Q75LH2	RADIL_HUMAN;.	L	865;836;599;625	ENSP00000382492:P865L;ENSP00000442966:P625L	ENSP00000320946:P836L	P	-	2	0	RADIL	4808058	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.208000	0.09371	-0.213000	0.10094	-0.253000	0.11424	CCG		0.736	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		7	9	0	0	0	0.248553	0	7	9				
NOS1	4842	broad.mit.edu	37	12	117665398	117665398	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:117665398C>T	ENST00000338101.4	-	23	3560	c.3556G>A	c.(3556-3558)Gtg>Atg	p.V1186M	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.V1152M			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		AGCACCTCCACGATGGTGGGG	0.577																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3454-3456)Gtg>Atg		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						85.0	96.0	92.0					12																	117665398		2074	4204	6278	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117665398C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3556G>A	12.37:g.117665398C>T	ENSP00000337459:p.Val1186Met					NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.V1186M	p.V1152M	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	23	4139	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1152			FAD-binding FR-type.			Missense_Mutation	SNP	ENST00000338101.4	37	c.3454G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377950	0.82682	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.34667	1.35;1.35	4.95	4.95	0.65309	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.70375	-0.4889	10	0.72032	D	0.01	-27.5773	18.3687	0.90400	0.0:1.0:0.0:0.0	.	1152	P29475	NOS1_HUMAN	M	1047;1152;1152;1186	ENSP00000320758:V1152M;ENSP00000337459:V1186M	ENSP00000320758:V1152M	V	-	1	0	NOS1	116149781	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.790000	0.69038	2.557000	0.86248	0.591000	0.81541	GTG		0.577	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			7	269	0	0	0	0.278610	0	7	269				
TUBBP5	643224	broad.mit.edu	37	9	141069913	141069913	+	RNA	SNP	C	C	T			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:141069913C>T	ENST00000503395.1	+	0	1122									tubulin, beta pseudogene 5																		TGCACCACCACGAGGCCAGCG	0.662																																						ENST00000503395.1																			0																																																			643224							g.chr9:141069913C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141069913C>T														0	1122	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.662	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		6	7	0	0	0	0.278610	0	6	7				
WDR27	253769	broad.mit.edu	37	6	170033136	170033136	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:170033136C>A	ENST00000448612.1	-	21	2239	c.2130G>T	c.(2128-2130)agG>agT	p.R710S	WDR27_ENST00000423258.1_Missense_Mutation_p.R583S|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000333572.6_Missense_Mutation_p.R710S	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	680						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CTTCCACGGTCCTGTTCCGGC	0.532																																						ENST00000333572.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12						c.(2128-2130)agG>agT		WD repeat domain 27							59.0	61.0	60.0					6																	170033136		1997	4161	6158	SO:0001583	missense	253769							g.chr6:170033136C>A	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.2130G>T	6.37:g.170033136C>A	ENSP00000416289:p.Arg710Ser					WDR27_ENST00000448612.1_Missense_Mutation_p.R710S|WDR27_ENST00000423258.1_Missense_Mutation_p.R583S|WDR27_ENST00000546525.1_5'UTR	p.R710S			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	21	2649	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	680					A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.2130G>T	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838957	0.32513	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.39592	5.02;1.07;5.02	5.04	0.587	0.17439	.	0.000000	0.64402	D	0.000001	T	0.37785	0.1016	L	0.57536	1.79	0.30279	N	0.791524	D;D;D	0.89917	0.997;1.0;0.992	D;D;P	0.83275	0.938;0.996;0.804	T	0.20874	-1.0262	10	0.51188	T	0.08	-24.8568	5.8724	0.18810	0.0:0.1766:0.1642:0.6593	.	710;583;710	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	S	710;710;583	ENSP00000416289:R710S;ENSP00000330265:R710S;ENSP00000397869:R583S	ENSP00000330265:R710S	R	-	3	2	WDR27	169775061	0.433000	0.25562	0.002000	0.10522	0.064000	0.16182	0.139000	0.16036	-0.129000	0.11620	-0.142000	0.14014	AGG		0.532	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		25	6	1	0	3.73808e-20	0.693898	4.16286e-20	25	6				
CIITA	4261	broad.mit.edu	37	16	11001311	11001311	+	Silent	SNP	C	C	T			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:11001311C>T	ENST00000324288.8	+	11	2095	c.1962C>T	c.(1960-1962)ccC>ccT	p.P654P	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	654	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACAGCCCCCCCGGGGCCCTGG	0.682			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(1960-1962)ccC>ccT		class II, major histocompatibility complex, transactivator							18.0	20.0	19.0					16																	11001311		2182	4275	6457	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11001311C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1962C>T	16.37:g.11001311C>T						CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	p.P654P	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			11	2095	+			654			NACHT.		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.1962C>T	CCDS10544.1																																																																																				0.682	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		40	45	0	0	0	0.812448	0	40	45				
SCYL1	57410	broad.mit.edu	37	11	65293511	65293511	+	Silent	SNP	C	C	T			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:65293511C>T	ENST00000270176.5	+	3	449	c.372C>T	c.(370-372)atC>atT	p.I124I	SCYL1_ENST00000525364.1_Silent_p.I124I|SCYL1_ENST00000527009.1_5'UTR|SCYL1_ENST00000533862.1_Silent_p.I124I|SCYL1_ENST00000279270.6_Silent_p.I124I|SCYL1_ENST00000524944.1_Silent_p.I124I|SCYL1_ENST00000420247.2_Silent_p.I124I	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	124	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						TACACCAGATCGTGGTGAGGT	0.617																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(370-372)atC>atT		SCY1-like 1 (S. cerevisiae)							50.0	57.0	54.0					11																	65293511		1993	4152	6145	SO:0001819	synonymous_variant	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65293511C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.372C>T	11.37:g.65293511C>T						SCYL1_ENST00000420247.2_Silent_p.I124I|SCYL1_ENST00000527630.1_Silent_p.I124I|SCYL1_ENST00000279270.6_Silent_p.I124I|SCYL1_ENST00000527009.1_5'UTR|SCYL1_ENST00000270176.5_Silent_p.I124I|SCYL1_ENST00000533862.1_Silent_p.I124I|SCYL1_ENST00000525364.1_Silent_p.I124I	p.I124I			Q96KG9	NTKL_HUMAN			3	405	+			124			Protein kinase.		A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	ENST00000270176.5	37	c.372C>T	CCDS41672.1																																																																																				0.617	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		10	99	0	0	0	0.361761	0	10	99				
PRPF40B	25766	broad.mit.edu	37	12	50025308	50025308	+	Missense_Mutation	SNP	C	C	T	rs149751647		TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:50025308C>T	ENST00000380281.1	+	2	207	c.143C>T	c.(142-144)gCg>gTg	p.A48V	PRPF40B_ENST00000548825.2_Missense_Mutation_p.A70V|PRPF40B_ENST00000261897.1_Missense_Mutation_p.A42V			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	48	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCAATGGGGGCGCCACCACCA	0.612																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(124-126)gCg>gTg		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	64.0	68.0	67.0		143,125	4.5	1.0	12	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRPF40B	NM_001031698.1,NM_012272.1	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	48/872,42/859	50025308	1,13005	2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50025308C>T	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.143C>T	12.37:g.50025308C>T	ENSP00000369634:p.Ala48Val					PRPF40B_ENST00000548825.2_Missense_Mutation_p.A70V|PRPF40B_ENST00000380281.1_Missense_Mutation_p.A48V	p.A42V			Q6NWY9	PR40B_HUMAN			2	676	+			48			Pro-rich.		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.125C>T		.	.	.	.	.	.	.	.	.	.	C	12.03	1.814713	0.32053	0.0	1.16E-4	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	T;T;T	0.23754	1.92;1.9;1.89	5.41	4.47	0.54385	.	0.107089	0.39341	N	0.001388	T	0.13457	0.0326	N	0.22421	0.69	0.42471	D	0.992827	P;P;P	0.42871	0.688;0.792;0.792	B;B;B	0.31337	0.06;0.128;0.128	T	0.06162	-1.0842	9	.	.	.	-11.7007	11.7512	0.51849	0.0:0.6945:0.3055:0.0	.	48;42;48	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	V	70;42;48	ENSP00000448073:A70V;ENSP00000261897:A42V;ENSP00000369634:A48V	.	A	+	2	0	PRPF40B	48311575	0.999000	0.42202	0.994000	0.49952	0.993000	0.82548	3.523000	0.53488	2.699000	0.92147	0.655000	0.94253	GCG		0.612	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		35	187	0	0	0	0.796494	0	35	187				
TMC2	117532	broad.mit.edu	37	20	2592911	2592911	+	Silent	SNP	C	C	T	rs144876435		TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr20:2592911C>T	ENST00000358864.1	+	13	1683	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	556					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTGGTTGGAACGAGAGTGTCC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		16762	0.001		0.0	False		,,,				2504	0.0					ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1666-1668)aaC>aaT		transmembrane channel-like 2		C		4,4402	8.1+/-20.4	0,4,2199	128.0	115.0	119.0		1668	-8.0	0.3	20	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	TMC2	NM_080751.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		556/907	2592911	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	117532					integral to membrane		g.chr20:2592911C>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1668C>T	20.37:g.2592911C>T						TMC2_ENST00000496948.1_3'UTR	p.N556N	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			13	1683	+			556					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	c.1668C>T	CCDS13029.2																																																																																				0.498	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			133	157	0	0	0	0.870114	0	133	157				
CAAP1	79886	broad.mit.edu	37	9	26842367	26842367	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:26842367C>G	ENST00000333916.5	-	6	1106	c.1018G>C	c.(1018-1020)Gaa>Caa	p.E340Q	CAAP1_ENST00000520187.1_3'UTR|CAAP1_ENST00000535437.1_Missense_Mutation_p.E195Q	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CAAP1_HUMAN	caspase activity and apoptosis inhibitor 1	340					apoptotic process (GO:0006915)												ATCTCAAGTTCTAGCAGCTCC	0.458																																						ENST00000333916.5																			0											c.(1018-1020)Gaa>Caa		caspase activity and apoptosis inhibitor 1							103.0	98.0	100.0					9																	26842367		2203	4300	6503	SO:0001583	missense	79886							g.chr9:26842367C>G	BC014658	CCDS6516.1	9p21.2	2012-04-20	2012-04-20	2012-04-20	ENSG00000120159	ENSG00000120159			25834	protein-coding gene	gene with protein product	"""conserved anti-apoptotic protein"""		"""chromosome 9 open reading frame 82"""	C9orf82		21980415	Standard	NM_024828		Approved	FLJ13657, CAAP	uc003zqc.3	Q9H8G2	OTTHUMG00000019706	ENST00000333916.5:c.1018G>C	9.37:g.26842367C>G	ENSP00000369431:p.Glu340Gln					CAAP1_ENST00000535437.1_Missense_Mutation_p.E195Q|CAAP1_ENST00000520187.1_3'UTR	p.E340Q	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CI082_HUMAN			6	1106	-			340					B4DWT4|D3DRK4|Q5VY32|Q6IPE6|Q96C59	Missense_Mutation	SNP	ENST00000333916.5	37	c.1018G>C	CCDS6516.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357086	0.82243	.	.	ENSG00000120159	ENST00000333916;ENST00000535437	T;T	0.71103	-0.54;-0.46	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.84092	0.5396	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.84690	0.0722	10	0.87932	D	0	-24.1567	20.0114	0.97452	0.0:1.0:0.0:0.0	.	340	Q9H8G2	CI082_HUMAN	Q	340;195	ENSP00000369431:E340Q;ENSP00000444885:E195Q	ENSP00000369431:E340Q	E	-	1	0	C9orf82	26832367	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.672000	0.74477	2.732000	0.93576	0.591000	0.81541	GAA		0.458	CAAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051954.1	NM_024828		27	172	0	0	0	0.729181	0	27	172				
ASCC2	84164	broad.mit.edu	37	22	30189476	30189476	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr22:30189476G>T	ENST00000397771.2	-	18	1969	c.1792C>A	c.(1792-1794)Cca>Aca	p.P598T	ASCC2_ENST00000307790.3_Missense_Mutation_p.P598T|ASCC2_ENST00000542393.1_Missense_Mutation_p.P522T			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	598					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGCTGCAGTGGCACCTGCAAT	0.612																																						ENST00000397771.2																			0				endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1792-1794)Cca>Aca		activating signal cointegrator 1 complex subunit 2							63.0	52.0	56.0					22																	30189476		2203	4300	6503	SO:0001583	missense	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30189476G>T	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1792C>A	22.37:g.30189476G>T	ENSP00000380877:p.Pro598Thr					ASCC2_ENST00000307790.3_Missense_Mutation_p.P598T|ASCC2_ENST00000542393.1_Missense_Mutation_p.P522T	p.P598T			Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		18	1969	-			598					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	c.1792C>A	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	g	6.453	0.451739	0.12223	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.08102	3.13;3.13;3.13	5.15	4.15	0.48705	.	0.299519	0.37178	N	0.002217	T	0.07818	0.0196	L	0.40543	1.245	0.36145	D	0.847057	B;B	0.11235	0.004;0.0	B;B	0.14578	0.011;0.001	T	0.18713	-1.0328	10	0.14656	T	0.56	-10.937	12.8138	0.57654	0.0:0.0:0.8365:0.1635	.	522;598	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	T	598;598;522	ENSP00000305502:P598T;ENSP00000380877:P598T;ENSP00000437570:P522T	ENSP00000305502:P598T	P	-	1	0	ASCC2	28519476	1.000000	0.71417	0.967000	0.41034	0.056000	0.15407	2.107000	0.41844	1.427000	0.47276	-0.121000	0.15023	CCA		0.612	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		21	63	1	0	7.87624e-14	0.639603	8.57636e-14	21	63				
SSU72	29101	broad.mit.edu	37	1	1500119	1500120	+	Intron	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:1500119_1500120insG	ENST00000291386.3	-	2	536				SSU72_ENST00000359060.4_Frame_Shift_Ins_p.P86fs	NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)						dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GAGGACCACACGGGGGGTTTTT	0.505																																						ENST00000359060.4																			0				large_intestine(2)|lung(5)	7						c.(256-258)ctgfs		SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)																																				SO:0001627	intron_variant	29101				mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	g.chr1:1500119_1500120insG	AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"""Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"""			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.224+32->C	1.37:g.1500125_1500125dupG						SSU72_ENST00000291386.3_Intron	p.L86fs			Q9NP77	SSU72_HUMAN		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	2	283_284	-	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-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)	0					Q9BZS6|Q9H933	Frame_Shift_Ins	INS	ENST00000291386.3	37	c.257_258insC	CCDS32.1																																																																																				0.505	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001366.1	NM_014188		9	560						9	560	---	---	---	---
CROCCP2	84809	broad.mit.edu	37	1	16946501	16946501	+	lincRNA	DEL	G	G	-			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:16946501delG	ENST00000412962.1	-	0	1018				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCGGCCTCCAGCTCCCGCCAT	0.667																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946501delG	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946501delG														0	1018	-								Q8NF65|Q96FR5|Q9BRE8	RNA	DEL	ENST00000412962.1	37																																																																																						0.667	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		6	5						6	5	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5542-5544)gggfs	p.G1848fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1465fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.G176fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1631fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1848					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	3	Insertion - Frameshift(3)	p.G1848fs*6(3)	ovary(2)|endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5539-5544)ggggggfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105930_27105931insG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5548dupG	1.37:g.27105937_27105937dupG	ENSP00000320485:p.Gly1848fs					ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs	p.GG1847fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5912_5913	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1847					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.5541_5542insG	CCDS285.1																																																																																				0.579	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		14	227						14	227	---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:33233494_33233495insC	ENST00000373480.1	+	2	268_269	c.165_166insC	c.(166-168)cccfs	p.P56fs	KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.P67fs|KIAA1522_ENST00000401073.2_Frame_Shift_Ins_p.P115fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.P56fs	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	56										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACCT	0.614																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(340-345)cgccccfs		KIAA1522																																				SO:0001589	frameshift_variant	57648							g.chr1:33233494_33233495insC	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.172dupC	1.37:g.33233501_33233501dupC	ENSP00000362579:p.Pro56fs					KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs	p.RP114fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			2	412_413	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	55		S -> P (in dbSNP:rs3737994).			B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Frame_Shift_Ins	INS	ENST00000373480.1	37	c.342_343insC	CCDS55588.1																																																																																				0.614	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			8	157						8	157	---	---	---	---
AGO1	26523	broad.mit.edu	37	1	36354044	36354045	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:36354044_36354045insC	ENST00000373204.4	+	2	255_256	c.42_43insC	c.(43-45)cccfs	p.P15fs	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	15					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GCGCTTACCTGCCCCCCCTGCA	0.569																																						ENST00000373204.4																			0											c.(40-45)ctccccfs		argonaute RISC catalytic component 1																																				SO:0001589	frameshift_variant	26523							g.chr1:36354044_36354045insC	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.49dupC	1.37:g.36354051_36354051dupC	ENSP00000362300:p.Pro15fs					AGO1_ENST00000373206.1_5'UTR	p.LP14fs	NM_012199.2	NP_036331.1					2	255_256	+								Q5TA57|Q6P4S0	Frame_Shift_Ins	INS	ENST00000373204.4	37	c.42_43insC	CCDS398.1																																																																																				0.569	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			7	156						7	156	---	---	---	---
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:36935322_36935323insG	ENST00000373106.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)cccagcfs	p.S469fs	CSF3R_ENST00000373103.1_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.S469fs	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1402-1407)ccgcgcfs		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)																																			SO:0001589	frameshift_variant	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36935322_36935323insG	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1405dupC	1.37:g.36935329_36935329dupG	ENSP00000362198:p.Ser469fs					CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR	p.R469fs	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN			11	1951_1952	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	469			Fibronectin type-III 4.			Frame_Shift_Ins	INS	ENST00000373106.1	37	c.1404_1405insC	CCDS413.1																																																																																				0.634	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		11	272						11	272	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)cccactfs	p.T118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.T118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594																																						ENST00000302250.2																			1	Deletion - Frameshift(1)	p.T118fs*43(1)	ovary(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(349-354)ccctatfs		family with sequence similarity 151, member A			,	13,4253		0,13,2120					,	3.2	0.2			92	8,8246		0,8,4119	no	frameshift,intron	ACOT11,FAM151A	NM_176782.2,NM_015547.3	,	0,21,6239	A1A1,A1R,RR		0.0969,0.3047,0.1677	,	,		21,12499				SO:0001589	frameshift_variant	338094					integral to membrane		g.chr1:55081756_55081757insG	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.352dupC	1.37:g.55081763_55081763dupG	ENSP00000306888:p.Thr118fs					ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			3	511_512	-			118					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Ins	INS	ENST00000302250.2	37	c.351_352insC	CCDS594.1																																																																																				0.594	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		11	403						11	403	---	---	---	---
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555|rs185821757		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)gggcacfs	p.H432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1291-1296)ggacaafs		guanylate binding protein 7																																				SO:0001589	frameshift_variant	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89613321_89613322insC	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1294dupG	1.37:g.89613328_89613328dupC	ENSP00000294671:p.His432fs						p.Q432fs	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	8	1431_1432	-		Lung NSC(277;0.0908)	432						Frame_Shift_Ins	INS	ENST00000294671.2	37	c.1293_1294insG	CCDS720.1																																																																																				0.436	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		15	206						15	206	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		22	310						22	310	---	---	---	---
SLC16A1	6566	broad.mit.edu	37	1	113471889	113471890	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:113471889_113471890insG	ENST00000538576.1	-	2	872_873	c.41_42insC	c.(40-42)ccafs	p.P14fs	SLC16A1_ENST00000369626.3_Frame_Shift_Ins_p.P14fs|SLC16A1_ENST00000433570.4_Frame_Shift_Ins_p.P14fs|SLC16A1_ENST00000478835.1_5'UTR	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	14					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	AGCCTCCATCTGGGGGGGTGTA	0.426																																						ENST00000538576.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20						c.(40-42)cgafs		solute carrier family 16 (monocarboxylate transporter), member 1	Pyruvic acid(DB00119)																																			SO:0001589	frameshift_variant	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113471889_113471890insG	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.42dupC	1.37:g.113471896_113471896dupG	ENSP00000441065:p.Pro14fs					SLC16A1_ENST00000369626.3_Frame_Shift_Ins_p.R14fs|SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000433570.4_Frame_Shift_Ins_p.R14fs	p.R14fs	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	2	872_873	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	14					Q49A45|Q5T8R6|Q9NSJ9	Frame_Shift_Ins	INS	ENST00000538576.1	37	c.41_42insC	CCDS858.1																																																																																				0.426	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		9	56						9	56	---	---	---	---
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G	rs548049340		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)ccafs	p.P19fs	RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.P19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.P19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.P19fs|RP11-126K1.6_ENST00000455503.1_RNA	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(55-57)cggfs		regulatory factor X, 5 (influences HLA class II expression)																																				SO:0001589	frameshift_variant	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151318740_151318741insG		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.57dupC	1.37:g.151318747_151318747dupG	ENSP00000290524:p.Pro19fs					RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs	p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	234_235	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		19					B7Z848|D3DV19|E9PFU4|Q5VWC3	Frame_Shift_Ins	INS	ENST00000290524.4	37	c.56_57insC	CCDS994.1																																																																																				0.554	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		10	265						10	265	---	---	---	---
ISG20L2	81875	broad.mit.edu	37	1	156694022	156694023	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:156694022_156694023insG	ENST00000313146.6	-	2	1647_1648	c.865_866insC	c.(865-867)ctcfs	p.L289fs	ISG20L2_ENST00000368219.1_Frame_Shift_Ins_p.L289fs|ISG20L2_ENST00000472824.2_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCGGTTGAGGGGGGGGATA	0.559																																						ENST00000313146.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(865-867)caafs		interferon stimulated exonuclease gene 20kDa-like 2																																				SO:0001589	frameshift_variant	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156694022_156694023insG	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.866dupC	1.37:g.156694030_156694030dupG	ENSP00000323424:p.Leu289fs					ISG20L2_ENST00000368219.1_Frame_Shift_Ins_p.Q289fs|ISG20L2_ENST00000472824.1_5'UTR	p.Q289fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN			2	1647_1648	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		289			Exonuclease.		D3DVC6|Q64KA2	Frame_Shift_Ins	INS	ENST00000313146.6	37	c.865_866insC	CCDS1153.1																																																																																				0.559	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		12	120						12	120	---	---	---	---
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)catfs	p.H18fs	MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.H18fs|MRPL24_ENST00000478899.1_5'Flank			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574																																						ENST00000368211.4																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(52-54)ttafs		mitochondrial ribosomal protein L24																																				SO:0001589	frameshift_variant	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708444_156708445insG	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.53dupC	1.37:g.156708451_156708451dupG	ENSP00000354525:p.His18fs					MRPL24_ENST00000361531.2_Frame_Shift_Ins_p.L18fs	p.L18fs	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	Q96A35	RM24_HUMAN			2	190_191	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		18					D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Frame_Shift_Ins	INS	ENST00000361531.2	37	c.52_53insC	CCDS1155.1																																																																																				0.574	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		8	151						8	151	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:159904586_159904587insG	ENST00000368094.1	-	7	896_897	c.699_700insC	c.(697-702)cccaagfs	p.K234fs	IGSF9_ENST00000493195.1_5'Flank|IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.K234fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	234	Ig-like 3.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGTTCTTGGGGGGCACCA	0.569																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(697-702)ccagaafs		immunoglobulin superfamily, member 9																																				SO:0001589	frameshift_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159904586_159904587insG	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.700dupC	1.37:g.159904592_159904592dupG	ENSP00000357073:p.Lys234fs					IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs	p.E234fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	896_897	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	234			Ig-like 3.			Frame_Shift_Ins	INS	ENST00000368094.1	37	c.699_700insC	CCDS44254.1																																																																																				0.569	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		11	272						11	272	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:167865905_167865906insG	ENST00000367851.4	-	7	850_851	c.666_667insC	c.(664-669)cccaatfs	p.N223fs	ADCY10_ENST00000367848.1_Frame_Shift_Ins_p.N131fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.N70fs	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	585						7	585	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5052)atccccfs	p.IP1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.47																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(5047-5049)accfs		pappalysin 2																																				SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176762723_176762724insC	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5055dupC	1.37:g.176762730_176762730dupC	ENSP00000356634:p.Ile1683fs						p.T1683fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			20	6212_6213	+			1683			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Ins	INS	ENST00000367662.3	37	c.5048_5049insC	CCDS41438.1																																																																																				0.470	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			16	372						16	372	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)gggaggfs	p.R584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.R584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1747-1752)ggggtafs		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)																																			SO:0001589	frameshift_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046125_201046126insC	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1750dupG	1.37:g.201046131_201046131dupC	ENSP00000355192:p.Arg584fs					CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			12	1975_1976	-			584					A4IF51|B1ALM2|Q12896|Q13934	Frame_Shift_Ins	INS	ENST00000362061.3	37	c.1749_1750insG	CCDS1407.1																																																																																				0.574	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		8	287						8	287	---	---	---	---
FMOD	2331	broad.mit.edu	37	1	203316599	203316600	+	Frame_Shift_Ins	INS	-	-	C	rs139730140		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:203316599_203316600insC	ENST00000354955.4	-	2	1262_1263	c.799_800insG	c.(799-801)gcgfs	p.A267fs	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	267					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CAGCTTGGGCGCCCCCCGGAAG	0.579																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(799-801)gccfs		fibromodulin																																				SO:0001589	frameshift_variant	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316599_203316600insC	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.800dupG	1.37:g.203316605_203316605dupC	ENSP00000347041:p.Ala267fs					FMOD_ENST00000464898.1_5'UTR	p.A267fs	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1262_1263	-			267					Q15331|Q8IV47	Frame_Shift_Ins	INS	ENST00000354955.4	37	c.799_800insG	CCDS30976.1																																																																																				0.579	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		9	253						9	253	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-258)atccccfs	p.IP85fs	ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.IP85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.48																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(253-255)accfs		ATPase, Ca++ transporting, plasma membrane 4																																				SO:0001589	frameshift_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203667345_203667346insC	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.261dupC	1.37:g.203667352_203667352dupC	ENSP00000350310:p.Ile85fs					ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs	p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	1377_1378	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		85					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Ins	INS	ENST00000357681.5	37	c.254_255insC	CCDS1440.1																																																																																				0.480	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		8	182						8	182	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)ggcfs	p.G304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.G216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				ACATCGTGGTGCCCCCCGACAT	0.589																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(910-912)gacfs		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)																																			SO:0001589	frameshift_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567546_229567547insC	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.912dupG	1.37:g.229567552_229567552dupC	ENSP00000355645:p.Gly304fs					ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	p.D304fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			6	1013_1014	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	304					P02568|P99020|Q5T8M9	Frame_Shift_Ins	INS	ENST00000366684.3	37	c.911_912insG	CCDS1578.1																																																																																				0.589	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		7	153						7	153	---	---	---	---
NRBP1	29959	broad.mit.edu	37	2	27658017	27658018	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:27658017_27658018insC	ENST00000233557.3	+	8	1416_1417	c.584_585insC	c.(583-588)gaccccfs	p.DP195fs	NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.DP195fs|NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.DP195fs			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CACTCCTGTGACCCCCCCATCA	0.589																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(583-585)gccfs		nuclear receptor binding protein 1																																				SO:0001589	frameshift_variant	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27658017_27658018insC	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.591dupC	2.37:g.27658024_27658024dupC	ENSP00000233557:p.Asp195fs					NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.A195fs|NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.A195fs	p.A195fs			Q9UHY1	NRBP_HUMAN			8	1416_1417	+	Acute lymphoblastic leukemia(172;0.155)		195			Protein kinase.		B3KV40|D6W558|Q53FZ5|Q96SU3	Frame_Shift_Ins	INS	ENST00000233557.3	37	c.584_585insC	CCDS1753.1																																																																																				0.589	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		7	164						7	164	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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|RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.S785fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.S912fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.S899fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.S882fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.S902fs	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_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs	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		7	510						7	510	---	---	---	---
USP39	10713	broad.mit.edu	37	2	85863227	85863228	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:85863227_85863228insG	ENST00000323701.6	+	7	1011_1012	c.1001_1002insG	c.(1000-1005)ctggggfs	p.LG334fs	USP39_ENST00000409025.1_Frame_Shift_Ins_p.LG334fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.LG334fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409766.3_Frame_Shift_Ins_p.LG334fs|USP39_ENST00000450066.2_Frame_Shift_Ins_p.LG231fs	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	334	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CACTCAGCTCTGGGGGGCACAA	0.416																																						ENST00000323701.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(1000-1002)cggfs		ubiquitin specific peptidase 39																																				SO:0001589	frameshift_variant	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85863227_85863228insG	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.1007dupG	2.37:g.85863233_85863233dupG	ENSP00000312981:p.Leu334fs					USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Frame_Shift_Ins_p.R231fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409766.3_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.R334fs	p.R334fs	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN			7	1011_1012	+			334					A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Frame_Shift_Ins	INS	ENST00000323701.6	37	c.1001_1002insG	CCDS33234.1																																																																																				0.416	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		9	609						9	609	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89082293	89082294	+	RNA	INS	-	-	ATTT	rs368332037		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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	36						8	36	---	---	---	---
MCM6	4175	broad.mit.edu	37	2	136622724	136622725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:136622724_136622725insC	ENST00000264156.2	-	7	996_997	c.936_937insG	c.(934-939)gggaaafs	p.K313fs	MCM6_ENST00000492091.1_5'Flank	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	313					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CTGAGCTCTTTCCCCCCAAACT	0.376																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(934-939)ggaagafs		minichromosome maintenance complex component 6	Atorvastatin(DB01076)																																			SO:0001589	frameshift_variant	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136622724_136622725insC		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.937dupG	2.37:g.136622730_136622730dupC	ENSP00000264156:p.Lys313fs						p.R313fs	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	7	996_997	-			313					B2R6H2|Q13504|Q99859	Frame_Shift_Ins	INS	ENST00000264156.2	37	c.936_937insG	CCDS2179.1																																																																																				0.376	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		7	298						7	298	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2056-2058)gggfs	p.G686fs	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G464fs|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G686fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	511					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2053-2058)acggggfs		xin actin-binding repeat containing 2																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099957_168099958insG	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2062dupG	2.37:g.168099964_168099964dupG	ENSP00000386840:p.Gly686fs					XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409605.1_Intron	p.TG685fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2144_2145	+			510					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Ins	INS	ENST00000409195.1	37	c.2055_2056insG	CCDS42769.1																																																																																				0.421	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		7	167						7	167	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:171240258_171240259insC	ENST00000408978.4	+	12	1367_1368	c.1224_1225insC	c.(1225-1227)cccfs	p.P409fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.P409fs|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_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR	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			10	203						10	203	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G	rs567294324		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|AC017101.10_ENST00000453665.1_RNA	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		14	367						14	367	---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2337)caccccfs	p.HP778fs	ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.HP778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.HP778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			2	Insertion - Frameshift(2)	p.K781fs*3(2)	ovary(2)	NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(2332-2334)cccfs		ADAM metallopeptidase domain 23																																				SO:0001589	frameshift_variant	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207460860_207460861insC	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2340dupC	2.37:g.207460867_207460867dupC	ENSP00000264377:p.His778fs					ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs	p.P778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	24	2661_2662	+			778					A2RU59	Frame_Shift_Ins	INS	ENST00000264377.3	37	c.2333_2334insC	CCDS2369.1																																																																																				0.455	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		7	111						7	111	---	---	---	---
RNF25	64320	broad.mit.edu	37	2	219529039	219529040	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:219529039_219529040insG	ENST00000295704.2	-	10	1460_1461	c.1020_1021insC	c.(1018-1023)cccaagfs	p.K341fs		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	341					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGACTGGGCTTGGGGGGATCTA	0.604																																						ENST00000295704.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1018-1023)ccagccfs		ring finger protein 25																																				SO:0001589	frameshift_variant	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219529039_219529040insG		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.1021dupC	2.37:g.219529045_219529045dupG	ENSP00000295704:p.Lys341fs						p.A341fs	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1460_1461	-		Renal(207;0.0474)	341					A8K0D6|Q53HQ5|Q9H874	Frame_Shift_Ins	INS	ENST00000295704.2	37	c.1020_1021insC	CCDS2420.1																																																																																				0.604	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		7	217						7	217	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cacfs	p.H202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.H242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.H202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AATCACCAGGTGGGGGGGCAGG	0.535																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(604-606)cctfs		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240954220_240954221insG	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.605dupC	2.37:g.240954227_240954227dupG	ENSP00000252711:p.His202fs					NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs	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		22	482						22	482	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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			11	225						11	225	---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs375350046|rs369823368|rs146316187		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:10088407_10088410delAGTA	ENST00000419585.1	+	15	1439	c.1278delAGTA	c.(1276-1278)tta>tt	p.L426fs	FANCD2_ENST00000383806.1_Splice_Site_p.L426fs|FANCD2_ENST00000287647.3_Splice_Site_p.L426fs|FANCD2_ENST00000383807.1_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_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_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	18	149						18	149	---	---	---	---
TATDN2	9797	broad.mit.edu	37	3	10312538	10312539	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:10312538_10312539insG	ENST00000287652.4	+	4	2723_2724	c.1672_1673insG	c.(1672-1674)tggfs	p.W558fs	TATDN2_ENST00000448281.2_Frame_Shift_Ins_p.W558fs|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	558					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGATCTGGTCTGGGGGGCCTTT	0.505																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(1672-1674)gggfs		TatD DNase domain containing 2																																				SO:0001589	frameshift_variant	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10312538_10312539insG	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1678dupG	3.37:g.10312544_10312544dupG	ENSP00000287652:p.Trp558fs					RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Frame_Shift_Ins_p.G558fs	p.G558fs	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			4	2723_2724	+			558					Q3MIL9|Q5BKU0	Frame_Shift_Ins	INS	ENST00000287652.4	37	c.1672_1673insG	CCDS33698.1																																																																																				0.505	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		7	749						7	749	---	---	---	---
DCLK3	85443	broad.mit.edu	37	3	36759523	36759524	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:36759523_36759524insG	ENST00000416516.2	-	4	2220_2221	c.1730_1731insC	c.(1729-1731)cctfs	p.P577fs	DCLK3_ENST00000498047.1_5'Flank	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	577	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGTCCCAGTAAGGGGGGAGGAA	0.54																																						ENST00000416516.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(1729-1731)ctafs		doublecortin-like kinase 3																																				SO:0001589	frameshift_variant	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36759523_36759524insG	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1731dupC	3.37:g.36759529_36759529dupG	ENSP00000394484:p.Pro577fs						p.L577fs	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN			4	2220_2221	-			577			Protein kinase.			Frame_Shift_Ins	INS	ENST00000416516.2	37	c.1730_1731insC	CCDS43064.1																																																																																				0.540	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		7	675						7	675	---	---	---	---
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855|rs63751031		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)accfs	p.T495fs	MLH1_ENST00000458205.2_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.T397fs|MLH1_ENST00000539477.1_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_ENST00000455445.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs	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		12	1092						12	1092	---	---	---	---
RNF123	63891	broad.mit.edu	37	3	49740082	49740083	+	Frame_Shift_Ins	INS	-	-	C	rs188127966		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:49740082_49740083insC	ENST00000327697.6	+	20	1790_1791	c.1646_1647insC	c.(1645-1650)tgccccfs	p.CP549fs	RNF123_ENST00000432042.1_Frame_Shift_Ins_p.CP403fs	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	549					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCCATGCTCTGCCCCCCTGAGT	0.55																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1645-1647)tccfs		ring finger protein 123																																				SO:0001589	frameshift_variant	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49740082_49740083insC	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1652dupC	3.37:g.49740088_49740088dupC	ENSP00000328287:p.Cys549fs					RNF123_ENST00000432042.1_Frame_Shift_Ins_p.S403fs	p.S549fs	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	20	1790_1791	+			549					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Frame_Shift_Ins	INS	ENST00000327697.6	37	c.1646_1647insC	CCDS33758.1																																																																																				0.550	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		10	692						10	692	---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50005144	50005145	+	Frame_Shift_Ins	INS	-	-	G	rs141234052	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:50005144_50005145insG	ENST00000266022.4	+	3	545_546	c.286_287insG	c.(286-288)aggfs	p.R96fs	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000539992.1_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_ENST00000443081.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_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		11	297						11	297	---	---	---	---
VPRBP	9730	broad.mit.edu	37	3	51457614	51457615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:51457614_51457615insG	ENST00000335891.5	-	7	1471_1472	c.1462_1463insC	c.(1462-1464)cagfs	p.Q488fs				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	937	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TAGCGGACCCTGGGGGGGCCGT	0.589																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1462-1464)gggfs		Vpr (HIV-1) binding protein																																				SO:0001589	frameshift_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51457614_51457615insG	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1463dupC	3.37:g.51457621_51457621dupG	ENSP00000338857:p.Gln488fs						p.G488fs			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	7	1471_1472	-			937					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Frame_Shift_Ins	INS	ENST00000335891.5	37	c.1462_1463insC																																																																																					0.589	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		13	133						13	133	---	---	---	---
PRKCD	5580	broad.mit.edu	37	3	53220652	53220653	+	Frame_Shift_Ins	INS	-	-	G	rs377107086		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:53220652_53220653insG	ENST00000394729.2	+	13	1621_1622	c.1293_1294insG	c.(1294-1296)gggfs	p.G432fs	PRKCD_ENST00000330452.3_Frame_Shift_Ins_p.G432fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	432	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	AGTTCCTCAACGGGGGGGACCT	0.604																																						ENST00000394729.2																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1291-1296)aaggggfs		protein kinase C, delta																																				SO:0001589	frameshift_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53220652_53220653insG		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1300dupG	3.37:g.53220659_53220659dupG	ENSP00000378217:p.Gly432fs					PRKCD_ENST00000330452.3_Frame_Shift_Ins_p.KG431fs	p.KG431fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	13	1621_1622	+		Ovarian(412;0.0728)	431			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Frame_Shift_Ins	INS	ENST00000394729.2	37	c.1293_1294insG	CCDS2870.1																																																																																				0.604	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			17	872						17	872	---	---	---	---
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G	rs201949188		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(127-129)gggfs	p.G43fs	KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.G43fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	43	BTB.				protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465																																						ENST00000355076.6																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(124-129)ttggggfs		potassium channel tetramerization domain containing 6																																				SO:0001589	frameshift_variant	200845					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr3:58486771_58486772insG	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.133dupG	3.37:g.58486778_58486778dupG	ENSP00000347188:p.Gly43fs					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		12	420						12	420	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		7	464						7	464	---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123368043	123368044	+	Splice_Site	INS	-	-	G	rs41431347|rs200371896	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:123368043_123368044insG	ENST00000475616.1	-	22	4288		c.e22-2		MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000360772.3_Splice_Site|MYLK_ENST00000346322.5_Splice_Site			Q15746	MYLK_HUMAN	myosin light chain kinase						actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624													?|GGGGGGGG|GGGGGGGGG|unsure	129	0.0257588	0.034	0.0303	5008	,	,		18148	0.0089		0.0348	False		,,,				2504	0.0194					ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.e26-2		myosin light chain kinase																																				SO:0001630	splice_region_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123368043_123368044insG	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4289-2->C	3.37:g.123368051_123368051dupG						MYLK_ENST00000475616.1_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000346322.5_Splice_Site				Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	26	4667	-		Lung NSC(201;0.0496)						B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Splice_Site	INS	ENST00000475616.1	37		CCDS46896.1																																																																																				0.624	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	Intron	21	208						21	208	---	---	---	---
MUC13	56667	broad.mit.edu	37	3	124646628	124646629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		9	1307						9	1307	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)cggfs	p.R493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.46																																						ENST00000264952.2																			1	Substitution - Missense(1)	p.R493L(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1477-1479)gggfs		G protein-coupled receptor kinase 7																																				SO:0001589	frameshift_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535707_141535708insG		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1483dupG	3.37:g.141535713_141535713dupG	ENSP00000264952:p.Arg493fs						p.G493fs	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			4	1614_1615	+			493			AGC-kinase C-terminal.			Frame_Shift_Ins	INS	ENST00000264952.2	37	c.1477_1478insG	CCDS3120.1																																																																																				0.460	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		20	1163						20	1163	---	---	---	---
MME	4311	broad.mit.edu	37	3	154884713	154884714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:154884713_154884714insC	ENST00000460393.1	+	18	1803_1804	c.1683_1684insC	c.(1684-1686)cccfs	p.P562fs	MME_ENST00000492661.1_Frame_Shift_Ins_p.P562fs|MME_ENST00000462745.1_Frame_Shift_Ins_p.P562fs|MME_ENST00000493237.1_Frame_Shift_Ins_p.P562fs|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Frame_Shift_Ins_p.P562fs	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-AS1_ENST00000484721.1_RNA|MME_ENST00000493237.1_Frame_Shift_Ins_p.HP561fs|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		8	435						8	435	---	---	---	---
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		8	586						8	586	---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	172096209	172096210	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:172096209_172096210insC	ENST00000336824.4	+	24	3257_3258	c.3158_3159insC	c.(3157-3162)gtccccfs	p.VP1053fs	FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.VP1053fs|FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.VP1053fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1053					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACCAAAAGTGTCCCCCCCACCA	0.47																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(3157-3159)gccfs		fibronectin type III domain containing 3B																																				SO:0001589	frameshift_variant	64778					endoplasmic reticulum|integral to membrane		g.chr3:172096209_172096210insC	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3165dupC	3.37:g.172096216_172096216dupC	ENSP00000338523:p.Val1053fs					FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.A1053fs|FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.A1053fs	p.A1053fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	24	3257_3258	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		1053					B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Frame_Shift_Ins	INS	ENST00000336824.4	37	c.3158_3159insC	CCDS3217.1																																																																																				0.470	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		7	186						7	186	---	---	---	---
KIAA0226	9711	broad.mit.edu	37	3	197427914	197427915	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:197427914_197427915insG	ENST00000296343.5	-	7	829_830	c.830_831insC	c.(829-831)ccafs	p.P277fs	KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000449205.1_Frame_Shift_Ins_p.P277fs|KIAA0226_ENST00000389665.5_Frame_Shift_Ins_p.P277fs|KIAA0226_ENST00000273582.5_Frame_Shift_Ins_p.P217fs	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	277	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AGACTGAAACTGGGGGGGCTTG	0.554																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(649-651)cgtfs		KIAA0226																																				SO:0001589	frameshift_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197427914_197427915insG	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.831dupC	3.37:g.197427921_197427921dupG	ENSP00000296343:p.Pro277fs					KIAA0226_ENST00000296343.5_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000389665.5_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000449205.1_Frame_Shift_Ins_p.R277fs	p.R217fs	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	7	1195_1196	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		277			Ser-rich.		Q96CK5	Frame_Shift_Ins	INS	ENST00000296343.5	37	c.650_651insC	CCDS43195.1																																																																																				0.554	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		12	156						12	156	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-687)gaccccfs	p.DP228fs	FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.DP252fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(682-684)gccfs		family with sequence similarity 193, member A																																				SO:0001589	frameshift_variant	8603							g.chr4:2661592_2661593insC	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.690dupC	4.37:g.2661599_2661599dupC	ENSP00000324587:p.Asp228fs					FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs	p.A228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			8	1034_1035	+			228					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Ins	INS	ENST00000324666.5	37	c.683_684insC	CCDS58875.1																																																																																				0.525	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		14	535						14	535	---	---	---	---
GPR125	166647	broad.mit.edu	37	4	22390062	22390063	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:22390062_22390063insG	ENST00000334304.5	-	19	3500_3501	c.3231_3232insC	c.(3229-3234)cccaacfs	p.N1078fs	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1078					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CCATTAGAGTTGGGGGGCTGGA	0.5																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(3229-3234)ccactcfs		G protein-coupled receptor 125																																				SO:0001589	frameshift_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390062_22390063insG	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3232dupC	4.37:g.22390068_22390068dupG	ENSP00000334952:p.Asn1078fs					GPR125_ENST00000282943.5_5'UTR	p.L1078fs	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3500_3501	-		Breast(46;0.198)	1078					Q6UXK9|Q86SQ5|Q8TC55	Frame_Shift_Ins	INS	ENST00000334304.5	37	c.3231_3232insC	CCDS33964.1																																																																																				0.500	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			9	235						9	235	---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	38091622	38091623	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:38091622_38091623insC	ENST00000261439.4	+	13	2475_2476	c.2120_2121insC	c.(2119-2124)ggccccfs	p.GP707fs	TBC1D1_ENST00000508802.1_Frame_Shift_Ins_p.GP801fs	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	707					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GGGCCCTTTGGCCCCCCACCAG	0.495																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(2119-2121)gccfs		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1																																				SO:0001589	frameshift_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38091622_38091623insC	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2126dupC	4.37:g.38091628_38091628dupC	ENSP00000261439:p.Gly707fs					TBC1D1_ENST00000508802.1_Frame_Shift_Ins_p.A801fs	p.A707fs	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			13	2475_2476	+			707					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Frame_Shift_Ins	INS	ENST00000261439.4	37	c.2120_2121insC	CCDS33972.1																																																																																				0.495	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		7	268						7	268	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57181627	57181628	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:57181627_57181628insC	ENST00000504228.1	+	6	2064_2065	c.1959_1960insC	c.(1960-1962)cccfs	p.P654fs	KIAA1211_ENST00000541073.1_Frame_Shift_Ins_p.P647fs|KIAA1211_ENST00000264229.6_Frame_Shift_Ins_p.P654fs			Q6ZU35	K1211_HUMAN	KIAA1211	654				P -> L (in Ref. 2; BAC86392). {ECO:0000305}.						endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GGAAGGCTAAGCCCCGCCAGGA	0.683																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(1957-1962)aacccgfs		KIAA1211																																				SO:0001589	frameshift_variant	57482							g.chr4:57181627_57181628insC	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1963dupC	4.37:g.57181631_57181631dupC	ENSP00000423366:p.Pro654fs					KIAA1211_ENST00000264229.6_Frame_Shift_Ins_p.NP653fs|KIAA1211_ENST00000541073.1_Frame_Shift_Ins_p.NP646fs	p.NP653fs			Q6ZU35	K1211_HUMAN			6	2064_2065	+	Glioma(25;0.08)|all_neural(26;0.101)		653					Q9NTE2|Q9NTP8|Q9ULK9	Frame_Shift_Ins	INS	ENST00000504228.1	37	c.1959_1960insC	CCDS43230.1																																																																																				0.683	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		9	76						9	76	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96091356	96091357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		7	454						7	454	---	---	---	---
TET2	54790	broad.mit.edu	37	4	106155956	106155957	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:106155956_106155957insA	ENST00000540549.1	+	3	1717_1718	c.857_858insA	c.(856-861)ccaaagfs	p.PK286fs	TET2_ENST00000513237.1_Frame_Shift_Ins_p.PK307fs|TET2_ENST00000305737.2_Frame_Shift_Ins_p.PK286fs|TET2_ENST00000413648.2_Frame_Shift_Ins_p.PK286fs|TET2_ENST00000545826.1_Frame_Shift_Ins_p.PK286fs|TET2_ENST00000394764.1_Frame_Shift_Ins_p.PK286fs|TET2_ENST00000380013.4_Frame_Shift_Ins_p.PK286fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	286					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GAGCTGCCTCCAAAGCCAGCTG	0.49			"""Mis N, F"""		MDS																																	ENST00000540549.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(856-858)caafs		tet methylcytosine dioxygenase 2																																				SO:0001589	frameshift_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106155956_106155957insA	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.860dupA	4.37:g.106155959_106155959dupA	ENSP00000442788:p.Pro286fs					TET2_ENST00000413648.2_Frame_Shift_Ins_p.Q286fs|TET2_ENST00000305737.2_Frame_Shift_Ins_p.Q286fs|TET2_ENST00000380013.4_Frame_Shift_Ins_p.Q286fs|TET2_ENST00000513237.1_Frame_Shift_Ins_p.Q307fs|TET2_ENST00000545826.1_Frame_Shift_Ins_p.Q286fs|TET2_ENST00000394764.1_Frame_Shift_Ins_p.Q286fs	p.Q286fs			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	1717_1718	+		Myeloproliferative disorder(5;0.0393)	286					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Ins	INS	ENST00000540549.1	37	c.857_858insA	CCDS47120.1																																																																																				0.490	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		9	221						9	221	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114280134	114280135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:114280134_114280135insG	ENST00000357077.4	+	38	10413_10414	c.10360_10361insG	c.(10360-10362)aggfs	p.R3454fs	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.R3421fs|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_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_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_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		23	224						23	224	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134071648	134071649	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:134071648_134071649insC	ENST00000264360.5	+	1	1179_1180	c.353_354insC	c.(352-357)aaccccfs	p.NP118fs	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	118	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S121fs*13(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTAATGACAACCCCCCCTCTT	0.604																																						ENST00000264360.4																			1	Insertion - Frameshift(1)	p.S121fs*13(1)	large_intestine(1)	NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(352-354)accfs		protocadherin 10																																				SO:0001589	frameshift_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071648_134071649insC	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.360dupC	4.37:g.134071655_134071655dupC	ENSP00000264360:p.Asn118fs						p.T118fs	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1179_1180	+			118			Cadherin 1.		Q4W5F6|Q96SF0	Frame_Shift_Ins	INS	ENST00000264360.5	37	c.353_354insC	CCDS34063.1																																																																																				0.604	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		7	297						7	297	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134071967	134071968	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:134071967_134071968insC	ENST00000264360.5	+	1	1498_1499	c.672_673insC	c.(673-675)cccfs	p.P225fs	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	225	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		gagcaggCCTGCCCCCCCAGCA	0.668																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(670-675)ctccccfs		protocadherin 10																																				SO:0001589	frameshift_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071967_134071968insC	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.679dupC	4.37:g.134071974_134071974dupC	ENSP00000264360:p.Pro225fs						p.LP224fs	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1498_1499	+			224			Cadherin 2.		Q4W5F6|Q96SF0	Frame_Shift_Ins	INS	ENST00000264360.5	37	c.672_673insC	CCDS34063.1																																																																																				0.668	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		12	123						12	123	---	---	---	---
GAB1	2549	broad.mit.edu	37	4	144361498	144361499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:144361498_144361499insC	ENST00000262994.4	+	6	1850_1851	c.1548_1549insC	c.(1549-1551)cccfs	p.P517fs	GAB1_ENST00000262995.4_Frame_Shift_Ins_p.P517fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.P414fs	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	517	Pro-rich.				activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					ACTGTGAACCACCCCCCGTGGA	0.515																																						ENST00000262995.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1546-1551)ccccccfs		GRB2-associated binding protein 1																																				SO:0001589	frameshift_variant	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144361498_144361499insC	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1554dupC	4.37:g.144361504_144361504dupC	ENSP00000262994:p.Pro517fs					GAB1_ENST00000262994.4_Frame_Shift_Ins_p.PP516fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.PP413fs	p.PP516fs	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN			6	1975_1976	+	all_hematologic(180;0.158)		516			Pro-rich.		A8K152|Q4W5G2|Q6P1W2	Frame_Shift_Ins	INS	ENST00000262994.4	37	c.1548_1549insC	CCDS3759.1																																																																																				0.515	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		8	209						8	209	---	---	---	---
GPM6A	2823	broad.mit.edu	37	4	176622884	176622885	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:176622884_176622885insC	ENST00000280187.7	-	3	116_117	c.71_72insG	c.(70-72)ggcfs	p.G24fs	GPM6A_ENST00000515090.1_Frame_Shift_Ins_p.G17fs|GPM6A_ENST00000393658.2_Frame_Shift_Ins_p.G24fs|GPM6A_ENST00000506894.1_Frame_Shift_Ins_p.G13fs	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_ENST00000506894.1_Frame_Shift_Ins_p.D13fs|GPM6A_ENST00000393658.2_Frame_Shift_Ins_p.D24fs|GPM6A_ENST00000515090.1_Frame_Shift_Ins_p.D17fs	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	462						8	462	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		7	666						7	666	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24487951	24487952	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:24487951_24487952insG	ENST00000264463.4	-	12	2694_2695	c.2187_2188insC	c.(2185-2190)ccctacfs	p.Y730fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	730					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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGTGAGTCGTAGGGGGGTGCGG	0.46										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(2185-2190)ccacgafs		cadherin 10, type 2 (T2-cadherin)																																				SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24487951_24487952insG	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2188dupC	5.37:g.24487957_24487957dupG	ENSP00000264463:p.Tyr730fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.R730fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2694_2695	-			730					Q9ULB3	Frame_Shift_Ins	INS	ENST00000264463.4	37	c.2187_2188insC	CCDS3892.1																																																																																				0.460	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		7	393						7	393	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	36986119	36986120	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:36986119_36986120insG	ENST00000282516.8	+	10	3336_3337	c.2837_2838insG	c.(2836-2841)ttggggfs	p.LG946fs	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.LG946fs	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_ENST00000448238.2_Frame_Shift_Ins_p.W946fs|NIPBL_ENST00000504430.1_3'UTR	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		7	367						7	367	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)gggccafs	p.P325fs	FYB_ENST00000515010.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.P335fs	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_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000512982.1_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		15	212						15	212	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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	557						22	557	---	---	---	---
ENC1	8507	broad.mit.edu	37	5	73931125	73931126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:73931125_73931126insC	ENST00000302351.4	-	2	2315_2316	c.1185_1186insG	c.(1183-1188)gggcacfs	p.H396fs	ENC1_ENST00000510316.1_Frame_Shift_Ins_p.H323fs|ENC1_ENST00000537006.1_Frame_Shift_Ins_p.H396fs	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	396					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GCGGCCGTGTGCCCCCCAACCA	0.599																																						ENST00000302351.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(1183-1188)ggacacfs		ectodermal-neural cortex 1 (with BTB domain)																																				SO:0001589	frameshift_variant	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931125_73931126insC	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1186dupG	5.37:g.73931131_73931131dupC	ENSP00000306356:p.His396fs					ENC1_ENST00000537006.1_Frame_Shift_Ins_p.H396fs|ENC1_ENST00000510316.1_Frame_Shift_Ins_p.H323fs	p.H396fs	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	2315_2316	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	396					B4DHJ1|E9PFU0|O75464|Q9UPG9	Frame_Shift_Ins	INS	ENST00000302351.4	37	c.1185_1186insG	CCDS4021.1																																																																																				0.599	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		7	200						7	200	---	---	---	---
CTD-2503O16.4	0	broad.mit.edu	37	5	74226290	74226291	+	lincRNA	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:74226290_74226291insC	ENST00000505200.1	-	0	335																											TGGGAATAATTCCCCCCATTCT	0.381																																						ENST00000505200.1																			0																																																			0							g.chr5:74226290_74226291insC																													5.37:g.74226296_74226296dupC														0	335	-									RNA	INS	ENST00000505200.1	37																																																																																						0.381	CTD-2503O16.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000370953.2			8	569						8	569	---	---	---	---
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		14	239						14	239	---	---	---	---
PCSK1	5122	broad.mit.edu	37	5	95746639	95746640	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:95746639_95746640insC	ENST00000311106.3	-	8	1170_1171	c.933_934insG	c.(931-936)gggcgtfs	p.R312fs	PCSK1_ENST00000513085.1_Intron|PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.R265fs|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	312	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.R312C(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCTCCCTGACGCCCCCCGTTTC	0.53																																						ENST00000311106.3																			1	Substitution - Missense(1)	p.R312C(1)	large_intestine(1)	NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(931-936)gggtcafs		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95746639_95746640insC		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.934dupG	5.37:g.95746645_95746645dupC	ENSP00000308024:p.Arg312fs					PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.S265fs|PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA	p.S312fs	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	8	1170_1171	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	312			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Frame_Shift_Ins	INS	ENST00000311106.3	37	c.933_934insG	CCDS4081.1																																																																																				0.530	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		7	430						7	430	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		18	329						18	329	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		12	1178						12	1178	---	---	---	---
FNIP1	96459	broad.mit.edu	37	5	131013435	131013435	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:131013435delC	ENST00000510461.1	-	13	1575	c.1480delG	c.(1480-1482)gcafs	p.A494fs	FNIP1_ENST00000307954.8_Frame_Shift_Del_p.A449fs|FNIP1_ENST00000307968.7_Frame_Shift_Del_p.A466fs|FNIP1_ENST00000511848.1_Frame_Shift_Del_p.A494fs|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	494					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TGAGTCTTTGCCAACATGTCC	0.383																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1396-1398)cafs		folliculin interacting protein 1							129.0	126.0	127.0					5																	131013435		2203	4300	6503	SO:0001589	frameshift_variant	96459							g.chr5:131013435delC	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1480delG	5.37:g.131013435delC	ENSP00000421985:p.Ala494fs					FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Frame_Shift_Del_p.A494fs|FNIP1_ENST00000307954.8_Frame_Shift_Del_p.A449fs|FNIP1_ENST00000510461.1_Frame_Shift_Del_p.A494fs	p.A466fs	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	12	1395	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Frame_Shift_Del	DEL	ENST00000510461.1	37	c.1396delG	CCDS34227.1																																																																																				0.383	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		100	204						100	204	---	---	---	---
SLC22A5	6584	broad.mit.edu	37	5	131722730	131722731	+	Frame_Shift_Ins	INS	-	-	C	rs386134209|rs386134208		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:131722730_131722731insC	ENST00000245407.3	+	5	1059_1060	c.838_839insC	c.(838-840)tccfs	p.S280fs	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.S304fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	280			S -> F (in CDSP; reduces carnitine transport). {ECO:0000269|PubMed:21922592}.		carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CATCCCTGAGTCCCCCCGATGG	0.545											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8	GRCh37	CM045438	SLC22A5	M		c.(838-840)cccfs		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)																																			SO:0001589	frameshift_variant	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131722730_131722731insC	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.844dupC	5.37:g.131722736_131722736dupC	ENSP00000245407:p.Ser280fs		OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1589	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.P304fs	p.P280fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1059_1060	+		all_cancers(142;0.0751)|Breast(839;0.198)	280					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Frame_Shift_Ins	INS	ENST00000245407.3	37	c.838_839insC	CCDS4154.1																																																																																				0.545	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		7	924						7	924	---	---	---	---
TCF7	6932	broad.mit.edu	37	5	133473764	133473765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:133473764_133473765insC	ENST00000321584.4	+	4	652_653	c.456_457insC	c.(457-459)cccfs	p.P153fs	TCF7_ENST00000395023.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000395029.1_Frame_Shift_Ins_p.P153fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	153					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCAATCAGCCCCCCCACGG	0.574																																						ENST00000395029.1																			0				kidney(2)|large_intestine(7)|lung(2)|skin(1)	12						c.(454-459)caccccfs		transcription factor 7 (T-cell specific, HMG-box)																																				SO:0001589	frameshift_variant	6932				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	g.chr5:133473764_133473765insC	Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.463dupC	5.37:g.133473771_133473771dupC	ENSP00000326540:p.Pro153fs					TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs	p.HP152fs			P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	651_652	+		Breast(839;0.058)	152					B3KSH3|Q86WR9|Q9UKI4	Frame_Shift_Ins	INS	ENST00000321584.4	37	c.456_457insC																																																																																					0.574	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634		9	187						9	187	---	---	---	---
SLC25A48	153328	broad.mit.edu	37	5	135207263	135207264	+	Frame_Shift_Ins	INS	-	-	G	rs570026912|rs371126144		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:135207263_135207264insG	ENST00000420621.1	+	5	707_708	c.535_536insG	c.(535-537)cggfs	p.R179fs	SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000274513.5_Frame_Shift_Ins_p.R179fs|SLC25A48_ENST00000433282.2_Frame_Shift_Ins_p.R125fs			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	179					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GGGGCTATACCGGGGGGCCAGT	0.604																																						ENST00000274513.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(535-537)gggfs		solute carrier family 25, member 48																																				SO:0001589	frameshift_variant	153328				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr5:135207263_135207264insG		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.541dupG	5.37:g.135207269_135207269dupG	ENSP00000407973:p.Arg179fs					SLC25A48_ENST00000420621.1_Frame_Shift_Ins_p.G179fs|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Frame_Shift_Ins_p.G125fs|SLC25A48_ENST00000412661.2_Intron	p.G179fs			Q6ZT89	S2548_HUMAN			5	707_708	+			179					Q8TAV9	Frame_Shift_Ins	INS	ENST00000420621.1	37	c.535_536insG																																																																																					0.604	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282		7	371						7	371	---	---	---	---
PCDHGC4	56098	broad.mit.edu	37	5	140865128	140865129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:140865128_140865129insC	ENST00000306593.1	+	1	388_389	c.388_389insC	c.(388-390)gccfs	p.A130fs	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	130	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGATCACGCCCCCCGTTTT	0.574																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(388-390)cccfs																																						SO:0001589	frameshift_variant	56098							g.chr5:140865128_140865129insC	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.394dupC	5.37:g.140865134_140865134dupC	ENSP00000306918:p.Ala130fs					PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron	p.P130fs	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	388_389	+								Q495T2|Q9Y5C3	Frame_Shift_Ins	INS	ENST00000306593.1	37	c.388_389insC	CCDS4262.1																																																																																				0.574	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		16	400						16	400	---	---	---	---
PCDHGC5	56097	broad.mit.edu	37	5	140870530	140870531	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:140870530_140870531insC	ENST00000252087.1	+	1	1723_1724	c.1723_1724insC	c.(1723-1725)gccfs	p.A575fs	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	575	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACACTCAGCCCCCCAGCGT	0.589																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1723-1725)cccfs																																						SO:0001589	frameshift_variant	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140870530_140870531insC	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1729dupC	5.37:g.140870536_140870536dupC	ENSP00000252087:p.Ala575fs					PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron	p.P575fs	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1723_1724	+			575			Cadherin 6.		Q9Y5C2	Frame_Shift_Ins	INS	ENST00000252087.1	37	c.1723_1724insC	CCDS4263.1																																																																																				0.589	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		7	256						7	256	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	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		17	801						17	801	---	---	---	---
ARHGAP26	23092	broad.mit.edu	37	5	142586762	142586763	+	Splice_Site	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:142586762_142586763insC	ENST00000274498.4	+	21	2366_2367		c.e21-1		ARHGAP26_ENST00000486650.1_Intron|ARHGAP26_ENST00000378004.3_Splice_Site	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26						actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTCTTGCAGCCCCCCGAATC	0.579																																						ENST00000378004.3																			1	Unknown(1)	p.?(1)	endometrium(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.e21-1		Rho GTPase activating protein 26																																				SO:0001630	splice_region_variant	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142586762_142586763insC	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1989-1->C	5.37:g.142586768_142586768dupC						ARHGAP26_ENST00000274498.4_Splice_Site|ARHGAP26_ENST00000486650.1_Intron		NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		21	2343_2344	+		all_hematologic(541;0.0416)						O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Splice_Site	INS	ENST00000274498.4	37		CCDS4277.1																																																																																				0.579	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071	Intron	12	514						12	514	---	---	---	---
LARS	51520	broad.mit.edu	37	5	145523013	145523014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:145523013_145523014insC	ENST00000394434.2	-	19	2004_2005	c.1838_1839insG	c.(1837-1839)ggtfs	p.G613fs	LARS_ENST00000274562.9_Frame_Shift_Ins_p.G586fs|LARS_ENST00000510191.1_Frame_Shift_Ins_p.G559fs|LARS_ENST00000545646.1_Frame_Shift_Ins_p.G567fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	613					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CATGCAAGTTACCCCCCTGCAA	0.45																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(1837-1839)gaafs		leucyl-tRNA synthetase	L-Leucine(DB00149)																																			SO:0001589	frameshift_variant	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145523013_145523014insC	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1839dupG	5.37:g.145523019_145523019dupC	ENSP00000377954:p.Gly613fs					LARS_ENST00000274562.9_Frame_Shift_Ins_p.E586fs|LARS_ENST00000510191.1_Frame_Shift_Ins_p.E559fs|LARS_ENST00000545646.1_Frame_Shift_Ins_p.E567fs	p.E613fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	2004_2005	-			613					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Frame_Shift_Ins	INS	ENST00000394434.2	37	c.1838_1839insG	CCDS34265.1																																																																																				0.450	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		15	1012						15	1012	---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149581960	149581961	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:149581960_149581961insG	ENST00000230671.2	+	7	1280_1281	c.909_910insG	c.(910-912)gggfs	p.G304fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.G304fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	304					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTGTGGGCTTCGGGGGGCTCCT	0.569																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(907-912)ttggggfs		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)																																			SO:0001589	frameshift_variant	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149581960_149581961insG	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.915dupG	5.37:g.149581966_149581966dupG	ENSP00000230671:p.Gly304fs					SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs	p.LG303fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1280_1281	+		all_hematologic(541;0.224)	303					Q0VG81|Q52LU6	Frame_Shift_Ins	INS	ENST00000230671.2	37	c.909_910insG	CCDS4305.1																																																																																				0.569	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		7	423						7	423	---	---	---	---
FNDC9	408263	broad.mit.edu	37	5	156769909	156769910	+	Frame_Shift_Ins	INS	-	-	C	rs200489390		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:156769909_156769910insC	ENST00000312349.4	-	2	822_823	c.635_636insG	c.(634-636)ggtfs	p.G212fs	CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000318218.6_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	212						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GTGGGTCACCACCCCCCCTCTG	0.584											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000312349.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(634-636)gggfs		fibronectin type III domain containing 9																																				SO:0001589	frameshift_variant	408263					integral to membrane		g.chr5:156769909_156769910insC	BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.636dupG	5.37:g.156769916_156769916dupC	ENSP00000310594:p.Gly212fs		OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1781	CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000442283.2_Intron	p.G212fs	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN			2	822_823	-			212					A8K0Y6	Frame_Shift_Ins	INS	ENST00000312349.4	37	c.635_636insG	CCDS4337.1																																																																																				0.584	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		13	192						13	192	---	---	---	---
TRIM41	90933	broad.mit.edu	37	5	180651435	180651436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:180651435_180651436insG	ENST00000315073.5	+	1	1146_1147	c.436_437insG	c.(436-438)aggfs	p.R146fs	CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Frame_Shift_Ins_p.R146fs|MIR4638_ENST00000581158.1_RNA	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	146	Glu-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ggaggacctgaggggggaggat	0.629																																						ENST00000315073.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(436-438)gggfs		tripartite motif containing 41																																				SO:0001589	frameshift_variant	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180651435_180651436insG	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.442dupG	5.37:g.180651441_180651441dupG	ENSP00000320869:p.Arg146fs					TRIM41_ENST00000351937.5_Frame_Shift_Ins_p.G146fs	p.G146fs	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	1146_1147	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	146			Glu-rich.		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Frame_Shift_Ins	INS	ENST00000315073.5	37	c.436_437insG	CCDS4466.1																																																																																				0.629	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		7	185						7	185	---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)cttfs	p.L9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485																																						ENST00000230449.4																			1	Deletion - Frameshift(1)	p.Q6fs*28(1)	ovary(1)	breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(25-27)tgtfs		exocyst complex component 2																																				SO:0001589	frameshift_variant	55770				exocytosis|protein transport			g.chr6:637793_637794insG	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.26dupC	6.37:g.637800_637800dupG	ENSP00000230449:p.Leu9fs					EXOC2_ENST00000448181.3_Intron	p.C9fs	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	2	160_161	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	9			IPT/TIG.		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Frame_Shift_Ins	INS	ENST00000230449.4	37	c.25_26insC	CCDS34327.1																																																																																				0.485	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		8	309						8	309	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Intron	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:10557409_10557410insC	ENST00000379597.3	+	1	1481				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Frame_Shift_Ins_p.P252fs			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_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_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		10	307						10	307	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-756)gtggggfs	p.VG251fs	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.VG106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.VG251fs			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		13	179						13	179	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		17	1303						17	1303	---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29577143	29577144	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:29577143_29577144insG	ENST00000377034.4	-	15	2056_2057	c.1721_1722insC	c.(1720-1722)ccafs	p.P574fs	GABBR1_ENST00000377012.4_Frame_Shift_Ins_p.P457fs|GABBR1_ENST00000355973.3_Frame_Shift_Ins_p.P457fs|GABBR1_ENST00000377016.4_Frame_Shift_Ins_p.P512fs|GABBR1_ENST00000376977.3_Intron	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	574					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TCTGGTCAGCTGGGGGGGACCC	0.54																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1720-1722)cgcfs		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)																																			SO:0001589	frameshift_variant	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29577143_29577144insG	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1722dupC	6.37:g.29577150_29577150dupG	ENSP00000366233:p.Pro574fs					GABBR1_ENST00000377016.4_Frame_Shift_Ins_p.R512fs|GABBR1_ENST00000355973.3_Frame_Shift_Ins_p.R457fs|GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000377012.4_Frame_Shift_Ins_p.R457fs	p.R574fs	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			15	2056_2057	-			574					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Frame_Shift_Ins	INS	ENST00000377034.4	37	c.1721_1722insC	CCDS4663.1																																																																																				0.540	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			8	222						8	222	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30569333	30569334	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:30569333_30569334insG	ENST00000376511.2	-	20	3367_3368	c.2815_2816insC	c.(2815-2817)ctgfs	p.L939fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	939					protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCCCTAGGGCAGGGGGGGCCCA	0.569																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(2815-2817)gccfs		protein phosphatase 1, regulatory subunit 10																																				SO:0001589	frameshift_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30569333_30569334insG	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2816dupC	6.37:g.30569340_30569340dupG	ENSP00000365694:p.Leu939fs						p.A939fs	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			20	3367_3368	-			939					O00405	Frame_Shift_Ins	INS	ENST00000376511.2	37	c.2815_2816insC	CCDS4681.1																																																																																				0.569	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		10	125						10	125	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31608570	31608571	+	Splice_Site	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:31608570_31608571insG	ENST00000375964.6	-	20	3155_3156	c.2842_2843insC	c.(2842-2844)cag>cCag	p.Q948fs	BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000375976.4_Splice_Site_p.Q942fs|BAG6_ENST00000211379.5_Splice_Site_p.Q942fs|BAG6_ENST00000439687.2_Splice_Site_p.Q816fs|BAG6_ENST00000404765.2_Splice_Site_p.Q978fs|BAG6_ENST00000362049.6_Splice_Site_p.Q942fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	948					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTCCCTTACCTGGGGGGGATCA	0.535																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.e21+1		BCL2-associated athanogene 6																																				SO:0001630	splice_region_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608570_31608571insG	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2844+1->C	6.37:g.31608577_31608577dupG						BAG6_ENST00000375976.4_Splice_Site_p.A942_splice|BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000211379.5_Splice_Site_p.A942_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_splice	p.A978_splice			P46379	BAG6_HUMAN			21	3221_3222	-			948					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Splice_Site	INS	ENST00000375964.6	37	c.2934_splice	CCDS47403.1																																																																																				0.535	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703	Frame_Shift_Ins	7	191						7	191	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692528	31692529	+	5'Flank	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:31692528_31692529insC	ENST00000375819.2	-	0	0				C6orf25_ENST00000480039.1_Intron|DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.P153fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000375809.3_Frame_Shift_Ins_p.S183fs	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TTCAGCTCTGTCCCCCCCACAT	0.579																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(547-549)cccfs		chromosome 6 open reading frame 25			,,,,,	3,4261		0,3,2129					,,,,,	1.1	1.0			67	4,8248		0,4,4122	no	frameshift,intron,frameshift,frameshift,intron,frameshift	C6orf25	NM_138277.2,NM_138275.2,NM_138274.2,NM_138273.2,NM_138272.2,NM_025260.3	,,,,,	0,7,6251	A1A1,A1R,RR		0.0485,0.0704,0.0559	,,,,,	,,,,,		7,12509				SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692528_31692529insC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692535_31692535dupC	Exception_encountered					C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000480039.1_Intron	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			10	356						10	356	---	---	---	---
FKBPL	63943	broad.mit.edu	37	6	32097085	32097086	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:32097085_32097086insC	ENST00000375156.3	-	2	742_743	c.472_473insG	c.(472-474)gagfs	p.E158fs	ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	158					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										CTCTATGAGCTCCCCCCAAGTT	0.589																																						ENST00000375156.3																			0											c.(472-474)gctfs		FK506 binding protein like																																				SO:0001589	frameshift_variant	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32097085_32097086insC	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.473dupG	6.37:g.32097091_32097091dupC	ENSP00000364298:p.Glu158fs						p.A158fs	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN			2	742_743	-			158					A8K5V3|B0UYX8|Q9H5G3	Frame_Shift_Ins	INS	ENST00000375156.3	37	c.472_473insG	CCDS4738.1																																																																																				0.589	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			11	349						11	349	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32522756	32522756	+	RNA	DEL	A	A	-	rs141838432		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:32522756delA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		GGACTAGGAGAAAAAAAGGTA	0.517																																						ENST00000411500.1																			0																																																			3128							g.chr6:32522756delA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522756delA								NR_001298.1						0	458	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.517	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		10	25						10	25	---	---	---	---
BRD2	6046	broad.mit.edu	37	6	32948228	32948229	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:32948228_32948229insC	ENST00000374825.4	+	12	3957_3958	c.2256_2257insC	c.(2257-2259)cccfs	p.P753fs	BRD2_ENST00000443797.2_Frame_Shift_Ins_p.P633fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.P753fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.P706fs|BRD2_ENST00000395289.2_Frame_Shift_Ins_p.P788fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.P788fs	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	753					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						CTACTAAAAAGCCCCCCAAGAA	0.426																																						ENST00000395289.2																			0				central_nervous_system(3)|stomach(2)	5						c.(2359-2364)aaccccfs		bromodomain containing 2																																				SO:0001589	frameshift_variant	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32948228_32948229insC	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.2262dupC	6.37:g.32948234_32948234dupC	ENSP00000363958:p.Pro753fs					BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs	p.NP787fs			P25440	BRD2_HUMAN			13	3962_3963	+			752			ET.|Poly-Ser.|Ser-rich.		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Frame_Shift_Ins	INS	ENST00000374825.4	37	c.2361_2362insC	CCDS4762.1																																																																																				0.426	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			9	240						9	240	---	---	---	---
KIAA1919	91749	broad.mit.edu	37	6	111587105	111587106	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:111587105_111587106insG	ENST00000368847.4	+	4	693_694	c.340_341insG	c.(340-342)tggfs	p.W114fs		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	114					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CTTGGCTATTTGGGGGGACAAA	0.416																																						ENST00000368847.4																			0				large_intestine(3)|lung(2)|ovary(4)|skin(3)	12						c.(340-342)gggfs		KIAA1919																																				SO:0001589	frameshift_variant	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111587105_111587106insG	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.346dupG	6.37:g.111587111_111587111dupG	ENSP00000357840:p.Trp114fs						p.G114fs	NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	4	693_694	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	114					A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Frame_Shift_Ins	INS	ENST00000368847.4	37	c.340_341insG	CCDS5090.1																																																																																				0.416	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		7	312						7	312	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_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_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_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		22	456						22	456	---	---	---	---
LPAL2	80350	broad.mit.edu	37	6	160931971	160931972	+	RNA	INS	-	-	A	rs544666070|rs377144382	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:160931971_160931972insA	ENST00000335388.5	-	0	166					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		AATTATTACACAAAAAAAACTA	0.322																																						ENST00000335388.5																			0				large_intestine(1)|lung(4)	5																																														80350							g.chr6:160931971_160931972insA	U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160931979_160931979dupA								NR_028092.1					OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	0	166	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)						E1P5B4	RNA	INS	ENST00000335388.5	37																																																																																						0.322	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492		7	175						7	175	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6759412	6759413	+	RNA	INS	-	-	G	rs554628923	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		7	182						7	182	---	---	---	---
NUPL2	11097	broad.mit.edu	37	7	23224772	23224773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:23224772_23224773insG	ENST00000258742.5	+	2	464_465	c.205_206insG	c.(205-207)tggfs	p.W69fs	NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.W69fs|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000487595.1_3'UTR	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	69					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAGC	0.406																																						ENST00000258742.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(205-207)gggfs		nucleoporin like 2				6,4258		0,6,2126						4.9	1.0			85	5,8249		0,5,4122	no	frameshift	NUPL2	NM_007342.2		0,11,6248	A1A1,A1R,RR		0.0606,0.1407,0.0879				11,12507				SO:0001589	frameshift_variant	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23224772_23224773insG	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.212dupG	7.37:g.23224779_23224779dupG	ENSP00000258742:p.Trp69fs					NUPL2_ENST00000487595.1_3'UTR|NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.G69fs|AC005082.1_ENST00000366347.4_Intron	p.G69fs	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN			2	464_465	+			69					A4D143|B4DP42|Q49AE7|Q9BS49	Frame_Shift_Ins	INS	ENST00000258742.5	37	c.205_206insG	CCDS5379.1																																																																																				0.406	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		13	200						13	200	---	---	---	---
OSBPL3	26031	broad.mit.edu	37	7	24870394	24870395	+	Frame_Shift_Ins	INS	-	-	A	rs35793413		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:24870394_24870395insA	ENST00000313367.2	-	16	2327_2328	c.1876_1877insT	c.(1876-1878)tcafs	p.S626fs	OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.S590fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.S595fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.S595fs|OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.S590fs|OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.S559fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.S559fs	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_ENST00000396429.1_Frame_Shift_Ins_p.R590fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.R559fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.R595fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.R595fs|OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.R590fs|OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.R559fs	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			13	1314						13	1314	---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-381)atccccfs	p.IP126fs	FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.IP179fs|FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(376-378)accfs		FK506 binding protein 9, 63 kDa																																				SO:0001589	frameshift_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33014803_33014804insC	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.384dupC	7.37:g.33014810_33014810dupC	ENSP00000242209:p.Ile126fs					FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs	p.T126fs	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		3	546_547	+			126			PPIase FKBP-type 1.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Frame_Shift_Ins	INS	ENST00000242209.4	37	c.377_378insC	CCDS5439.1																																																																																				0.446	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		12	382						12	382	---	---	---	---
C7orf57	136288	broad.mit.edu	37	7	48089565	48089566	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:48089565_48089566insC	ENST00000348904.3	+	6	808_809	c.596_597insC	c.(595-600)ttccccfs	p.FP199fs	C7orf57_ENST00000539619.1_Frame_Shift_Ins_p.FP199fs|C7orf57_ENST00000435376.1_Frame_Shift_Ins_p.FP77fs|C7orf57_ENST00000420324.1_Frame_Shift_Ins_p.FP244fs|C7orf57_ENST00000430738.1_Frame_Shift_Ins_p.FP244fs	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	199										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AGACTCTCCTTCCCCCCCGTGT	0.55																																						ENST00000348904.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(595-597)tccfs		chromosome 7 open reading frame 57																																				SO:0001589	frameshift_variant	136288							g.chr7:48089565_48089566insC	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.603dupC	7.37:g.48089572_48089572dupC	ENSP00000335500:p.Phe199fs					C7orf57_ENST00000420324.1_Frame_Shift_Ins_p.S244fs|C7orf57_ENST00000435376.1_Frame_Shift_Ins_p.S77fs|C7orf57_ENST00000539619.1_Frame_Shift_Ins_p.S199fs|C7orf57_ENST00000430738.1_Frame_Shift_Ins_p.S244fs	p.S199fs	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN			6	808_809	+			199					C9JBJ8	Frame_Shift_Ins	INS	ENST00000348904.3	37	c.596_597insC	CCDS47583.1																																																																																				0.550	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		7	229						7	229	---	---	---	---
BSNDP4	106481726	broad.mit.edu	37	7	57698565	57698566	+	RNA	INS	-	-	TGGG	rs367832782		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:57698565_57698566insTGGG	ENST00000605139.1	-	0	416																											CACAGGAGACCTGGGCTGCAGG	0.584																																						ENST00000605139.1																			0																																																			0							g.chr7:57698565_57698566insTGGG																													7.37:g.57698566_57698569dupTGGG														0	416	-									RNA	INS	ENST00000605139.1	37																																																																																						0.584	RP11-368M16.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000468775.1			3	3						3	3	---	---	---	---
ZNF107	51427	broad.mit.edu	37	7	64169016	64169017	+	In_Frame_Ins	INS	-	-	GAA	rs374463603|rs375319415|rs199594424	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:64169016_64169017insGAA	ENST00000395391.1	+	4	3709_3710	c.2334_2335insGAA	c.(2335-2337)gag>GAAgag	p.779_779E>EE	ZNF107_ENST00000344930.3_In_Frame_Ins_p.779_779E>EE|ZNF107_ENST00000423627.1_In_Frame_Ins_p.779_779E>EE			Q9UII5	ZN107_HUMAN	zinc finger protein 107	779					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)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CCTACAAATGTGAGTATGGCAA	0.351																																						ENST00000395391.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(2332-2337)tgagta>tgGAAagta		zinc finger protein 107			,	1042,3210		165,712,1249					,	1.0	0.1			28	38,8210		0,38,4086	no	coding,coding	ZNF107	NM_016220.3,NM_001013746.1	,	165,750,5335	A1A1,A1R,RR		0.4607,24.5061,8.64	,	,		1080,11420				SO:0001652	inframe_insertion	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64169016_64169017insGAA	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		Exception_encountered	7.37:g.64169016_64169017insGAA	ENSP00000378789:p.Glu779dup					ZNF107_ENST00000344930.3_In_Frame_Ins_p.778_778*>WK|ZNF107_ENST00000423627.1_In_Frame_Ins_p.778_778*>WK	p.778_778*>WK			Q9UII5	ZN107_HUMAN			4	3709_3710	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	778						In_Frame_Ins	INS	ENST00000395391.1	37	c.2334_2335insGAA	CCDS5527.1																																																																																				0.351	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		10	26						10	26	---	---	---	---
RP11-3P22.2	0	broad.mit.edu	37	7	68719820	68719831	+	lincRNA	DEL	AAGGAAGAGAGA	AAGGAAGAGAGA	-	rs140812254|rs73143711	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:68719820_68719831delAAGGAAGAGAGA	ENST00000435148.1	-	0	590																											ggaagagaggaaggaagagagaaaggaagaga	0.448														723	0.144369	0.0847	0.0836	5008	,	,		20476	0.1796		0.0845	False		,,,				2504	0.2935					ENST00000435148.1																			0																																																			0							g.chr7:68719820_68719831delAAGGAAGAGAGA																													7.37:g.68719820_68719831delAAGGAAGAGAGA														0	590	-									RNA	DEL	ENST00000435148.1	37																																																																																						0.448	RP11-3P22.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000344765.1			2	4						2	4	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76112242	76112243	+	Frame_Shift_Ins	INS	-	-	C	rs143934697		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:76112242_76112243insC	ENST00000324432.5	+	5	1196_1197	c.686_687insC	c.(685-690)caccccfs	p.HP229fs	DTX2_ENST00000430490.2_Frame_Shift_Ins_p.HP229fs|DTX2_ENST00000413936.2_Frame_Shift_Ins_p.HP229fs|DTX2_ENST00000307569.8_Frame_Shift_Ins_p.HP229fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.HP229fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.HP138fs	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_ENST00000413936.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.P138fs|DTX2_ENST00000430490.2_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	250						7	250	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98592294	98592295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:98592294_98592295insC	ENST00000359863.4	+	66	10299_10300	c.10090_10091insC	c.(10090-10092)accfs	p.T3364fs	TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.T3335fs|TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.T3353fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3364					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTAAAATCACCCCCCACACT	0.54																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(10090-10092)cccfs		transformation/transcription domain-associated protein																																				SO:0001589	frameshift_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98592294_98592295insC	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10096dupC	7.37:g.98592300_98592300dupC	ENSP00000352925:p.Thr3364fs					TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.P3353fs|TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.P3335fs	p.P3364fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		66	10299_10300	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3364					A4D265|O75218|Q9Y631|Q9Y6H4	Frame_Shift_Ins	INS	ENST00000359863.4	37	c.10090_10091insC	CCDS59066.1																																																																																				0.540	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		8	655						8	655	---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		13	413						13	413	---	---	---	---
ZCWPW1	55063	broad.mit.edu	37	7	100000150	100000151	+	Frame_Shift_Ins	INS	-	-	T	rs375737733		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:100000150_100000151insT	ENST00000398027.2	-	16	1706_1707	c.1459_1460insA	c.(1459-1461)accfs	p.T487fs	ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.T367fs|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.T367fs|ZCWPW1_ENST00000360951.4_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	487							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTTGGCTTGGTTTTTTGGGTC	0.48																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(1459-1461)caafs		zinc finger, CW type with PWWP domain 1																																				SO:0001589	frameshift_variant	55063						zinc ion binding	g.chr7:100000150_100000151insT	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1460dupA	7.37:g.100000156_100000156dupT	ENSP00000381109:p.Thr487fs					ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.Q367fs	p.Q487fs	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			16	1706_1707	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		487					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Frame_Shift_Ins	INS	ENST00000398027.2	37	c.1459_1460insA	CCDS43623.1																																																																																				0.480	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		10	3350						10	3350	---	---	---	---
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C	rs538448756		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1170)tgccccfs	p.CP389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.51																																						ENST00000223061.5																			2	Insertion - Frameshift(2)	p.M392fs*>59(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(1165-1167)tccfs		procollagen C-endopeptidase enhancer																																				SO:0001589	frameshift_variant	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100205413_100205414insC	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1173dupC	7.37:g.100205420_100205420dupC	ENSP00000223061:p.Cys389fs						p.S389fs	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN			8	1446_1447	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		389			NTR.		B2R9E1|O14550	Frame_Shift_Ins	INS	ENST00000223061.5	37	c.1166_1167insC	CCDS5700.1																																																																																				0.510	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		8	173						8	173	---	---	---	---
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G	rs571529719		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		13	136						13	136	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173277	126173278	+	Frame_Shift_Ins	INS	-	-	G	rs77499554		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:126173277_126173278insG	ENST00000339582.2	-	9	2966_2967	c.2158_2159insC	c.(2158-2160)cacfs	p.H720fs	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Frame_Shift_Ins_p.H720fs|GRM8_ENST00000444921.2_Frame_Shift_Ins_p.H720fs			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	720					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|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)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AATGATGATGTGGGGGGGATCC	0.505										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(2158-2160)catfs		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173277_126173278insG		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2159dupC	7.37:g.126173284_126173284dupG	ENSP00000344173:p.His720fs	HNSCC(24;0.065)				GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Frame_Shift_Ins_p.H720fs|GRM8_ENST00000358373.3_Frame_Shift_Ins_p.H720fs	p.H720fs			O00222	GRM8_HUMAN			9	2966_2967	-		Prostate(267;0.186)	720					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Frame_Shift_Ins	INS	ENST00000339582.2	37	c.2158_2159insC	CCDS5794.1																																																																																				0.505	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			8	130						8	130	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3382-3384)cccfs	p.P1128fs	CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.P408fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.P489fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.P420fs|CCDC136_ENST00000471729.1_Intron	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_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs	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	1688						8	1688	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		11	755						11	755	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2088682	2088683	+	Frame_Shift_Ins	INS	-	-	G	rs34620424	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr8:2088682_2088683insG	ENST00000262113.4	+	33	3978_3979	c.3837_3838insG	c.(3838-3840)gggfs	p.G1280fs	MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.G705fs|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1280					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTGA	0.446																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(3835-3840)atggggfs		myomesin 2																																				SO:0001589	frameshift_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2088682_2088683insG		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3843dupG	8.37:g.2088688_2088688dupG	ENSP00000262113:p.Gly1280fs					MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs	p.MG1279fs	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	33	3978_3979	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1279					Q7Z3Y2	Frame_Shift_Ins	INS	ENST00000262113.4	37	c.3837_3838insG	CCDS5957.1																																																																																				0.446	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		7	418						7	418	---	---	---	---
SLC18A1	6570	broad.mit.edu	37	8	20004787	20004788	+	Frame_Shift_Ins	INS	-	-	G	rs539049307	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr8:20004787_20004788insG	ENST00000276373.5	-	15	1711_1712	c.1445_1446insC	c.(1444-1446)ccgfs	p.P482fs	SLC18A1_ENST00000440926.1_Frame_Shift_Ins_p.P482fs|SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.P450fs|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.P450fs|SLC18A1_ENST00000437980.1_Intron	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	482					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	CTTCCTTTGCCGGGGGGCTCCG	0.5																																						ENST00000440926.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1444-1446)cgcfs		solute carrier family 18 (vesicular monoamine transporter), member 1			,,,	0,4264		0,0,2132					,,,	-1.9	1.0			62	4,8250		0,4,4123	no	frameshift,intron,frameshift,frameshift	SLC18A1	NM_003053.3,NM_001142325.1,NM_001142324.1,NM_001135691.2	,,,	0,4,6255	A1A1,A1R,RR		0.0485,0.0,0.032	,,,	,,,		4,12514				SO:0001589	frameshift_variant	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20004787_20004788insG		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1446dupC	8.37:g.20004793_20004793dupG	ENSP00000276373:p.Pro482fs					SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000276373.5_Frame_Shift_Ins_p.R482fs	p.R482fs	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	16	1915_1916	-			482					E9PDJ5|Q9BRE4	Frame_Shift_Ins	INS	ENST00000276373.5	37	c.1445_1446insC	CCDS6013.1																																																																																				0.500	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			7	388						7	388	---	---	---	---
DMTN	2039	broad.mit.edu	37	8	21926551	21926552	+	Frame_Shift_Ins	INS	-	-	C	rs377647942		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr8:21926551_21926552insC	ENST00000523266.1	+	5	736_737	c.274_275insC	c.(274-276)tccfs	p.S92fs	DMTN_ENST00000415253.1_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000519907.1_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000523782.2_Frame_Shift_Ins_p.S67fs|DMTN_ENST00000443491.2_Frame_Shift_Ins_p.S67fs|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000381470.3_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000265800.5_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000358242.3_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000432128.1_Frame_Shift_Ins_p.S92fs	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	92					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										CAAATCCACATCCCCCCCACCA	0.604																																						ENST00000358242.3																			0											c.(274-276)cccfs		dematin actin binding protein																																				SO:0001589	frameshift_variant	2039							g.chr8:21926551_21926552insC	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.281dupC	8.37:g.21926558_21926558dupC	ENSP00000427866:p.Ser92fs					DMTN_ENST00000523266.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000523782.2_Frame_Shift_Ins_p.P67fs|DMTN_ENST00000265800.5_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000519907.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000443491.2_Frame_Shift_Ins_p.P67fs|DMTN_ENST00000415253.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000432128.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000381470.3_Frame_Shift_Ins_p.P92fs	p.P92fs							5	767_768	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Frame_Shift_Ins	INS	ENST00000523266.1	37	c.274_275insC	CCDS6020.1																																																																																				0.604	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		7	150						7	150	---	---	---	---
NUGGC	389643	broad.mit.edu	37	8	27880848	27880849	+	Frame_Shift_Ins	INS	-	-	G	rs376263360	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr8:27880848_27880849insG	ENST00000413272.2	-	19	2518_2519	c.2376_2377insC	c.(2374-2379)cccgggfs	p.G793fs	NUGGC_ENST00000341513.6_Frame_Shift_Ins_p.G793fs	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	793					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.P792P(2)									AGTGATGTCCCGGGGGGGCCAG	0.525																																						ENST00000413272.2																			2	Substitution - coding silent(2)	p.P792P(2)	central_nervous_system(2)								c.(2374-2379)ccggacfs		nuclear GTPase, germinal center associated				8,3602		0,8,1797						-0.7	0.0			34	15,7845		0,15,3915	no	frameshift	C8orf80	NM_001010906.1		0,23,5712	A1A1,A1R,RR		0.1908,0.2216,0.2005				23,11447				SO:0001589	frameshift_variant	389643							g.chr8:27880848_27880849insG	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.2377dupC	8.37:g.27880855_27880855dupG	ENSP00000408697:p.Gly793fs					NUGGC_ENST00000341513.6_Frame_Shift_Ins_p.D793fs	p.D793fs	NM_001010906.1	NP_001010906.1					19	2518_2519	-								Q6ZP73	Frame_Shift_Ins	INS	ENST00000413272.2	37	c.2376_2377insC	CCDS47833.1																																																																																				0.525	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		7	116						7	116	---	---	---	---
KCNU1	157855	broad.mit.edu	37	8	36768517	36768518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr8:36768517_36768518insC	ENST00000399881.3	+	22	2438_2439	c.2401_2402insC	c.(2401-2403)tccfs	p.S801fs		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	801					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCTGTCTTGTCCCCCCCACCC	0.525																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2401-2403)cccfs		potassium channel, subfamily U, member 1																																				SO:0001589	frameshift_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36768517_36768518insC	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2408dupC	8.37:g.36768524_36768524dupC	ENSP00000382770:p.Ser801fs						p.P801fs	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	22	2438_2439	+			801						Frame_Shift_Ins	INS	ENST00000399881.3	37	c.2401_2402insC	CCDS55220.1																																																																																				0.525	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		8	183						8	183	---	---	---	---
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)gccfs	p.A13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	13					brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										GAGAGGCCTCGCCCCCCGAGAG	0.54																																						ENST00000331373.5																			0											c.(37-39)cccfs						3,4261		0,3,2129						-9.6	0.0			82	3,8251		0,3,4124	no	frameshift	SGK196	NM_032237.3		0,6,6253	A1A1,A1R,RR		0.0363,0.0704,0.0479				6,12512				SO:0001589	frameshift_variant	84197					integral to membrane	ATP binding|protein kinase activity	g.chr8:42958728_42958729insC		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.43dupC	8.37:g.42958734_42958734dupC	ENSP00000331258:p.Ala13fs						p.P13fs	NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN			4	292_293	+			13						Frame_Shift_Ins	INS	ENST00000331373.5	37	c.37_38insC	CCDS6141.1																																																																																				0.540	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		13	294						13	294	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	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		21	256						21	256	---	---	---	---
MROH5	389690	broad.mit.edu	37	8	142477454	142477463	+	RNA	DEL	CCTGGCCCTT	CCTGGCCCTT	-	rs139022001		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr8:142477454_142477463delCCTGGCCCTT	ENST00000430863.1	-	0	2403					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CCCTCCGCCCcctggcccttcctggccctt	0.671																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5				428,2966		83,262,1352						2.7	0.0		dbSNP_134	7	879,6431		151,577,2927	no	intron	FLJ43860	NM_207414.2		234,839,4279	A1A1,A1R,RR		12.0246,12.6105,12.2104				1307,9397						389690							g.chr8:142477454_142477463delCCTGGCCCTT			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142477464_142477473delCCTGGCCCTT								NM_207414.2	NP_997297.2					0	2403	-									RNA	DEL	ENST00000430863.1	37																																																																																						0.671	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		3	6						3	6	---	---	---	---
LRRC14	9684	broad.mit.edu	37	8	145746499	145746502	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr8:145746499_145746502delTGAG	ENST00000292524.1	+	4	1265_1268	c.1119_1122delTGAG	c.(1117-1122)actgagfs	p.TE373fs	LRRC14_ENST00000529022.1_Frame_Shift_Del_p.TE373fs	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	373										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGGAGCTGACTGAGTGTCAGCTCG	0.593																																						ENST00000292524.1																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(1117-1122)acfs		leucine rich repeat containing 14																																				SO:0001589	frameshift_variant	9684							g.chr8:145746499_145746502delTGAG	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.1119_1122delTGAG	8.37:g.145746499_145746502delTGAG	ENSP00000292524:p.Thr373fs					LRRC14_ENST00000529022.1_Frame_Shift_Del_p.TE373fs	p.TE373fs	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	1265_1268	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		373					A8K0A8|D3DWM8	Frame_Shift_Del	DEL	ENST00000292524.1	37	c.1119_1122delTGAG	CCDS6432.1																																																																																				0.593	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		4	6						4	6	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14823286	14823287	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:14823286_14823287insG	ENST00000380880.3	-	13	2991_2992	c.2208_2209insC	c.(2206-2211)cccatgfs	p.M737fs	FREM1_ENST00000380881.4_Frame_Shift_Ins_p.M738fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.M737fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	737					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTCTTGCATGGGGGGCATGT	0.441																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2209-2214)cctgcafs		FRAS1 related extracellular matrix 1																																				SO:0001589	frameshift_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14823286_14823287insG	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2209dupC	9.37:g.14823292_14823292dupG	ENSP00000370262:p.Met737fs					FREM1_ENST00000380880.3_Frame_Shift_Ins_p.A737fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.A737fs	p.A738fs			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	14	3026_3027	-			737					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Frame_Shift_Ins	INS	ENST00000380880.3	37	c.2211_2212insC	CCDS47952.1																																																																																				0.441	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		10	880						10	880	---	---	---	---
TEK	7010	broad.mit.edu	37	9	27185544	27185545	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:27185544_27185545insC	ENST00000380036.4	+	9	1686_1687	c.1244_1245insC	c.(1243-1248)ctccccfs	p.LP415fs	TEK_ENST00000406359.4_Frame_Shift_Ins_p.LP372fs|TEK_ENST00000519097.1_Frame_Shift_Ins_p.LP268fs	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	415	Ig-like C2-type 2.				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)	CACCGGATCCTCCCCCCTGACT	0.436																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(1243-1245)cccfs		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.chr9:27185544_27185545insC	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.1250dupC	9.37:g.27185550_27185550dupC	ENSP00000369375:p.Leu415fs					TEK_ENST00000519097.1_Frame_Shift_Ins_p.P268fs|TEK_ENST00000406359.4_Frame_Shift_Ins_p.P372fs	p.P415fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	9	1686_1687	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	415			Ig-like C2-type 2.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Frame_Shift_Ins	INS	ENST00000380036.4	37	c.1244_1245insC	CCDS6519.1																																																																																				0.436	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			11	328						11	328	---	---	---	---
UBAP2	55833	broad.mit.edu	37	9	33923478	33923479	+	Splice_Site	INS	-	-	G	rs368852145		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:33923478_33923479insG	ENST00000379238.1	-	25	2914		c.e25-2		UBAP2_ENST00000379235.1_Splice_Site|UBAP2_ENST00000539807.1_Splice_Site|UBAP2_ENST00000360802.1_Splice_Site|UBAP2_ENST00000449054.1_Splice_Site|UBAP2_ENST00000379239.4_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_ENST00000449054.1_Splice_Site|UBAP2_ENST00000379235.1_Splice_Site|UBAP2_ENST00000539807.1_Splice_Site|UBAP2_ENST00000379239.4_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	493						22	493	---	---	---	---
FAM219A	203259	broad.mit.edu	37	9	34401027	34401028	+	Frame_Shift_Ins	INS	-	-	G	rs202019820		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:34401027_34401028insG	ENST00000445726.1	-	6	798_799	c.492_493insC	c.(490-495)cccaagfs	p.K165fs	FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.K148fs|FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.K152fs|FAM219A_ENST00000379084.1_Splice_Site_p.N147fs|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.K136fs|FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.K163fs|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.K146fs	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A	165																	TTCACGGACTTGGGGGGGATGA	0.644																																						ENST00000445726.1																			0											c.(490-495)ccagtcfs		family with sequence similarity 219, member A																																				SO:0001589	frameshift_variant	203259							g.chr9:34401027_34401028insG	AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 25"""	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.493dupC	9.37:g.34401034_34401034dupG	ENSP00000392452:p.Lys165fs					FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.V163fs|FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.V148fs|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.V136fs|FAM219A_ENST00000379084.1_Splice_Site_p.P147_splice|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.V146fs|FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.V152fs	p.V165fs	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	CI025_HUMAN			6	798_799	-			165					A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Frame_Shift_Ins	INS	ENST00000445726.1	37	c.492_493insC	CCDS55304.1																																																																																				0.644	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001184940		10	102						10	102	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccactfs	p.T788fs	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.T788fs|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604																																						ENST00000378617.3																			1	Insertion - Frameshift(1)	p.T788fs*5(1)	ovary(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2359-2364)cccttcfs		phosphatidylinositol glycan anchor biosynthesis, class O																																				SO:0001589	frameshift_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35091522_35091523insG	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2362dupC	9.37:g.35091529_35091529dupG	ENSP00000367880:p.Thr788fs					PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs|PIGO_ENST00000298004.5_Intron	p.F788fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2755_2756	-			788					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Frame_Shift_Ins	INS	ENST00000378617.3	37	c.2361_2362insC	CCDS6575.1																																																																																				0.604	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		12	281						12	281	---	---	---	---
TLN1	7094	broad.mit.edu	37	9	35720499	35720500	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:35720499_35720500insT	ENST00000314888.9	-	12	1566_1567	c.1213_1214insA	c.(1213-1215)agcfs	p.S405fs	TLN1_ENST00000540444.1_Frame_Shift_Ins_p.S405fs	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	405	Interaction with LAYN. {ECO:0000250}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTGATCCTTGCTTTTTTTCTGT	0.465																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(1213-1215)caafs		talin 1																																				SO:0001589	frameshift_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35720499_35720500insT	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.1214dupA	9.37:g.35720506_35720506dupT	ENSP00000316029:p.Ser405fs					TLN1_ENST00000540444.1_Frame_Shift_Ins_p.Q405fs	p.Q405fs	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		12	1566_1567	-	all_epithelial(49;0.167)		405			Interaction with LAYN (By similarity).		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Frame_Shift_Ins	INS	ENST00000314888.9	37	c.1213_1214insA	CCDS35009.1																																																																																				0.465	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		8	860						8	860	---	---	---	---
TMC1	117531	broad.mit.edu	37	9	75407208	75407209	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:75407208_75407209insT	ENST00000297784.5	+	17	2046_2047	c.1506_1507insT	c.(1507-1509)tttfs	p.F503fs	TMC1_ENST00000340019.3_Frame_Shift_Ins_p.F503fs|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Frame_Shift_Ins_p.F503fs	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	503					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						CTGGACCACCCTTTTTTGTTCA	0.441																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1504-1509)ccttttfs		transmembrane channel-like 1																																				SO:0001589	frameshift_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75407208_75407209insT	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1512dupT	9.37:g.75407214_75407214dupT	ENSP00000297784:p.Phe503fs					TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Frame_Shift_Ins_p.PF502fs|TMC1_ENST00000396237.3_Frame_Shift_Ins_p.PF502fs	p.PF502fs	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			17	2046_2047	+			502					A8MVZ2|B1AM91	Frame_Shift_Ins	INS	ENST00000297784.5	37	c.1506_1507insT	CCDS6643.1																																																																																				0.441	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			8	945						8	945	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77377691	77377692	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:77377691_77377692insC	ENST00000360774.1	-	26	4132_4133	c.3895_3896insG	c.(3895-3897)gcafs	p.A1299fs	TRPM6_ENST00000361255.3_Frame_Shift_Ins_p.A1294fs|TRPM6_ENST00000449912.2_Frame_Shift_Ins_p.A1294fs|TRPM6_ENST00000451710.3_Frame_Shift_Ins_p.A1299fs|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Frame_Shift_Ins_p.A1299fs	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1299					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCAAGAAGTGCCCCCCTCTGC	0.48																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(3895-3897)actfs		transient receptor potential cation channel, subfamily M, member 6																																				SO:0001589	frameshift_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377691_77377692insC	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3896dupG	9.37:g.77377697_77377697dupC	ENSP00000354006:p.Ala1299fs					TRPM6_ENST00000361255.3_Frame_Shift_Ins_p.T1294fs|TRPM6_ENST00000360774.1_Frame_Shift_Ins_p.T1299fs|TRPM6_ENST00000449912.2_Frame_Shift_Ins_p.T1294fs|TRPM6_ENST00000376864.4_Frame_Shift_Ins_p.T1299fs|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron	p.T1299fs			Q9BX84	TRPM6_HUMAN			26	4132_4133	-			1299					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Frame_Shift_Ins	INS	ENST00000360774.1	37	c.3895_3896insG	CCDS6647.1																																																																																				0.480	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		8	367						8	367	---	---	---	---
DAPK1	1612	broad.mit.edu	37	9	90321801	90321802	+	Frame_Shift_Ins	INS	-	-	G	rs56169226	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:90321801_90321802insG	ENST00000408954.3	+	26	4150_4151	c.3815_3816insG	c.(3814-3819)atggggfs	p.MG1272fs	DAPK1_ENST00000469640.2_Frame_Shift_Ins_p.MG1297fs|DAPK1_ENST00000358077.5_Frame_Shift_Ins_p.MG1272fs|DAPK1_ENST00000491893.1_Frame_Shift_Ins_p.MG1206fs|DAPK1_ENST00000472284.1_Frame_Shift_Ins_p.MG1272fs	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1272			M -> I (in dbSNP:rs56169226). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Y1276fs*31(1)|p.Y1275fs*31(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ACCAACACCATGGGGGGGTACA	0.584									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			2	Deletion - Frameshift(2)	p.Y1276fs*31(1)|p.Y1275fs*31(1)	large_intestine(2)	breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(3889-3891)aggfs		death-associated protein kinase 1																																				SO:0001589	frameshift_variant	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90321801_90321802insG	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3822dupG	9.37:g.90321808_90321808dupG	ENSP00000386135:p.Met1272fs					DAPK1_ENST00000472284.1_Frame_Shift_Ins_p.R1272fs|DAPK1_ENST00000358077.5_Frame_Shift_Ins_p.R1272fs|DAPK1_ENST00000491893.1_Frame_Shift_Ins_p.R1206fs|DAPK1_ENST00000408954.3_Frame_Shift_Ins_p.R1272fs	p.R1297fs			P53355	DAPK1_HUMAN			27	4265_4266	+			1272					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Frame_Shift_Ins	INS	ENST00000408954.3	37	c.3890_3891insG	CCDS43842.1																																																																																				0.584	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		13	199						13	199	---	---	---	---
C9orf152	401546	broad.mit.edu	37	9	112963553	112963554	+	Frame_Shift_Ins	INS	-	-	G	rs554733063		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:112963553_112963554insG	ENST00000400613.4	-	2	1003_1004	c.394_395insC	c.(394-396)cagfs	p.Q132fs	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	132										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACTGGTGTCCTGGGGGGAGGTT	0.564																																						ENST00000400613.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(394-396)ggafs		chromosome 9 open reading frame 152																																				SO:0001589	frameshift_variant	401546							g.chr9:112963553_112963554insG	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.395dupC	9.37:g.112963559_112963559dupG	ENSP00000383456:p.Gln132fs					C9orf152_ENST00000473442.1_Intron	p.G132fs	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN			2	1003_1004	-			132					A8MWT6	Frame_Shift_Ins	INS	ENST00000400613.4	37	c.394_395insC	CCDS35102.2																																																																																				0.564	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		14	952						14	952	---	---	---	---
NUP214	8021	broad.mit.edu	37	9	134073007	134073008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:134073007_134073008insC	ENST00000359428.5	+	29	4270_4271	c.4126_4127insC	c.(4126-4128)gccfs	p.A1376fs	NUP214_ENST00000483497.2_Frame_Shift_Ins_p.A202fs|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.A1377fs|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.A1366fs			P35658	NU214_HUMAN	nucleoporin 214kDa	1376	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAATTTTACTGCCCCCCCGGTG	0.545			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(4126-4128)cccfs		nucleoporin 214kDa																																				SO:0001589	frameshift_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134073007_134073008insC	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4133dupC	9.37:g.134073014_134073014dupC	ENSP00000352400:p.Ala1376fs					NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P1377fs|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P1366fs|NUP214_ENST00000483497.2_Frame_Shift_Ins_p.P202fs	p.P1376fs			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	4270_4271	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1376			11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Frame_Shift_Ins	INS	ENST00000359428.5	37	c.4126_4127insC	CCDS6940.1																																																																																				0.545	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		8	198						8	198	---	---	---	---
ZMYND19	116225	broad.mit.edu	37	9	140481541	140481542	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:140481541_140481542insC	ENST00000298585.2	-	4	462_463	c.236_237insG	c.(235-237)ggcfs	p.G79fs	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	79						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)	p.V80fs*34(2)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCGGGGCCACGCCCCCCCGGTG	0.634																																						ENST00000298585.2																			2	Insertion - Frameshift(2)	p.V80fs*34(2)	large_intestine(2)	endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13						c.(235-237)ggtfs		zinc finger, MYND-type containing 19																																				SO:0001589	frameshift_variant	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140481541_140481542insC	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.237dupG	9.37:g.140481548_140481548dupC	ENSP00000298585:p.Gly79fs					ZMYND19_ENST00000471957.1_5'UTR	p.G79fs	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	4	462_463	-	all_cancers(76;0.106)		79					Q5T366	Frame_Shift_Ins	INS	ENST00000298585.2	37	c.236_237insG	CCDS7048.1																																																																																				0.634	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462		14	237						14	237	---	---	---	---
PHYH	5264	broad.mit.edu	37	10	13325834	13325835	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr10:13325834_13325835insC	ENST00000263038.4	-	7	741_742	c.683_684insG	c.(682-684)ggafs	p.G228fs	PHYH_ENST00000396920.3_Frame_Shift_Ins_p.G211fs|PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	228					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTTGTTAACTCCCCCCTAGAA	0.465																																						ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25	GRCh37	CI040643	PHYH	I		c.(631-633)ggtfs		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13325834_13325835insC		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.684dupG	10.37:g.13325840_13325840dupC	ENSP00000263038:p.Gly228fs					PHYH_ENST00000263038.4_Frame_Shift_Ins_p.G228fs|PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs	p.G211fs			O14832	PAHX_HUMAN			7	1036_1037	-		Ovarian(717;0.0448)	228					A8MTS8|B1ALH5	Frame_Shift_Ins	INS	ENST00000263038.4	37	c.632_633insG	CCDS7097.1																																																																																				0.465	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			8	631						8	631	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1368_1369insC	c.(1369-1371)ccc>Cccc	p.P457fs	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.P338fs|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.P457fs	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	457					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.51																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.e11-1		SEC24 family member C																																				SO:0001630	splice_region_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75525559_75525560insC	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1367-1->C	10.37:g.75525566_75525566dupC						SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron	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	21	487						21	487	---	---	---	---
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000493877.1_3'UTR	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	312						11	312	---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)tccfs	p.S147fs	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	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					HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	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		19	791						19	791	---	---	---	---
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C	rs564123868		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)gaafs	p.E202fs	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.E219fs	NM_015957.2	NP_057041.2			APAF1 interacting protein											kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.45																																						ENST00000395787.3																			0				kidney(2)|lung(1)|skin(1)	4						c.(604-606)aacfs		APAF1 interacting protein																																				SO:0001589	frameshift_variant	51074				apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity	g.chr11:34904908_34904909insC	AF132963	CCDS7895.1	11p13	2014-05-12				ENSG00000149089	4.2.1.109		17581	protein-coding gene	gene with protein product	"""methylthioribulose-1-phosphate dehydratase"""	612491				10810093, 15262985, 24367089	Standard	NM_015957		Approved	CGI-29, Mmrp19, APIP2	uc001mvs.2	Q96GX9		ENST00000395787.3:c.605dupG	11.37:g.34904914_34904914dupC	ENSP00000379133:p.Glu202fs					APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs	p.N202fs	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	STAD - Stomach adenocarcinoma(6;0.000425)		6	818_819	-	all_epithelial(35;0.161)	all_hematologic(20;0.107)	202						Frame_Shift_Ins	INS	ENST00000395787.3	37	c.604_605insG	CCDS7895.1																																																																																				0.450	APIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389864.1	NM_015957		7	365						7	365	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G	rs555561982	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Splice_Site	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	9	262						9	262	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65271172	65271173	+	lincRNA	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:65271172_65271173insG	ENST00000534336.1	+	0	5940_5941					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GGGGCAATCTTGGGGGGGATTC	0.347																																						ENST00000534336.1																			0																	5,1927		0,5,961						3.1	1.0			77	5,4111		0,5,2053	no	intergenic				0,10,3014	A1A1,A1R,RR		0.1215,0.2588,0.1653				10,6038						378938							g.chr11:65271172_65271173insG	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271179_65271179dupG								NR_002819.2						0	5940_5941	+									RNA	INS	ENST00000534336.1	37																																																																																						0.347	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		7	93						7	93	---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77412023	77412024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:77412023_77412024insG	ENST00000308488.6	-	6	2552_2553	c.2250_2251insC	c.(2248-2253)cccaaafs	p.K751fs	RSF1_ENST00000480887.1_Frame_Shift_Ins_p.K499fs|RSF1_ENST00000360355.2_Frame_Shift_Ins_p.K720fs			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_ENST00000360355.2_Frame_Shift_Ins_p.S720fs|RSF1_ENST00000480887.1_Frame_Shift_Ins_p.S499fs	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		14	449						14	449	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G	rs576548045		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|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		9	570						9	570	---	---	---	---
VSIG2	23584	broad.mit.edu	37	11	124620739	124620740	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:124620739_124620740insG	ENST00000326621.5	-	3	397_398	c.297_298insC	c.(295-300)cccacafs	p.T100fs	VSIG2_ENST00000403470.1_Frame_Shift_Ins_p.T100fs	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	100	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ACCCCCACTGTGGGGGGGTTCT	0.54																																						ENST00000403470.1																			0				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19						c.(295-300)cccagtfs		V-set and immunoglobulin domain containing 2				5,4259		0,5,2127						4.1	1.0			80	5,8249		0,5,4122	no	frameshift	VSIG2	NM_014312.3		0,10,6249	A1A1,A1R,RR		0.0606,0.1173,0.0799				10,12508				SO:0001589	frameshift_variant	23584					integral to plasma membrane|membrane fraction		g.chr11:124620739_124620740insG	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.298dupC	11.37:g.124620746_124620746dupG	ENSP00000318684:p.Thr100fs					VSIG2_ENST00000326621.5_Frame_Shift_Ins_p.S100fs	p.S100fs			Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	3	352_353	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	100			Ig-like V-type.		O95791|Q9NX42	Frame_Shift_Ins	INS	ENST00000326621.5	37	c.297_298insC	CCDS8452.1																																																																																				0.540	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		7	54						7	54	---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G	rs373860109		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		10	780						10	780	---	---	---	---
CRACR2A	84766	broad.mit.edu	37	12	3788266	3788267	+	Splice_Site	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:3788266_3788267insG	ENST00000252322.1	-	6	809		c.e6-2		EFCAB4B_ENST00000440314.2_Splice_Site|EFCAB4B_ENST00000444507.1_Splice_Site	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN							activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			AGAAGTGACCTGGGGGGTGCAG	0.525																																						ENST00000440314.2																			0				breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.e6-2		EF-hand calcium binding domain 4B																																				SO:0001630	splice_region_variant	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3788266_3788267insG																												ENST00000252322.1:c.341-2->C	12.37:g.3788272_3788272dupG						EFCAB4B_ENST00000444507.1_Splice_Site|EFCAB4B_ENST00000252322.1_Splice_Site		NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		6	814	-								B4E1X0|B9EK63	Splice_Site	INS	ENST00000252322.1	37		CCDS8522.1																																																																																				0.525	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1		Intron	7	341						7	341	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6091108	6091109	+	Frame_Shift_Ins	INS	-	-	G	rs368646629|rs267607359|rs267607360		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:6091108_6091109insG	ENST00000261405.5	-	42	7384_7385	c.7130_7131insC	c.(7129-7131)ccgfs	p.P2377fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2377					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.P2377P(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAAACGGTGCGGGGGGCAGGA	0.604																																						ENST00000261405.5																			1	Substitution - coding silent(1)	p.P2377P(1)	kidney(1)	NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CI983256	VWF	I	rs61750632	c.(7129-7131)ccafs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6091108_6091109insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7131dupC	12.37:g.6091114_6091114dupG	ENSP00000261405:p.Pro2377fs						p.P2377fs	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			42	7384_7385	-			2377					Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.7130_7131insC	CCDS8539.1																																																																																				0.604	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		9	464						9	464	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6153463	6153464	+	Frame_Shift_Ins	INS	-	-	G	rs62643632|rs62643631	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:6153463_6153464insG	ENST00000261405.5	-	18	2689_2690	c.2435_2436insC	c.(2434-2436)ccgfs	p.P812fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	812	E1.|TIL 3.				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)	TCACCATGCCCGGGGGGCAGAG	0.594																																						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	CD920917|CM074633	VWF	D|M	rs137990643	c.(2434-2436)cggfs		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.chr12:6153463_6153464insG		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.2436dupC	12.37:g.6153469_6153469dupG	ENSP00000261405:p.Pro812fs						p.R812fs	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			18	2689_2690	-			812			E1.|TIL 3.		Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.2435_2436insC	CCDS8539.1																																																																																				0.594	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		8	274						8	274	---	---	---	---
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-495)caggggfs	p.QG164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.QG109fs	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		24	591						24	591	---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7045699	7045700	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:7045699_7045700insC	ENST00000356654.4	+	5	1506_1507	c.1269_1270insC	c.(1270-1272)cccfs	p.P424fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.P424fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	424					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TCTCCAATCAGCCCCCCAAGTA	0.614																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1267-1272)caccccfs		atrophin 1																																				SO:0001589	frameshift_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045699_7045700insC	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1275dupC	12.37:g.7045705_7045705dupC	ENSP00000349076:p.Pro424fs					ATN1_ENST00000396684.2_Frame_Shift_Ins_p.HP423fs	p.HP423fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1506_1507	+			423					Q99495|Q99621|Q9UEK7	Frame_Shift_Ins	INS	ENST00000356654.4	37	c.1269_1270insC	CCDS31734.1																																																																																				0.614	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		8	458						8	458	---	---	---	---
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-477)tgccccfs	p.CP158fs	C1S_ENST00000402681.3_5'UTR|C1S_ENST00000360817.5_Frame_Shift_Ins_p.CP158fs|C1S_ENST00000328916.3_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_ENST00000360817.5_Frame_Shift_Ins_p.S158fs|C1S_ENST00000328916.3_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		12	620						12	620	---	---	---	---
PRB1	5542	broad.mit.edu	37	12	11506229	11506231	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:11506229_11506231delTGC	ENST00000500254.2	-	4	444_446	c.407_409delGCA	c.(406-411)agcaag>aag	p.S136del	PRB1_ENST00000545626.1_In_Frame_Del_p.S116del|PRB1_ENST00000546254.1_In_Frame_Del_p.S136del	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTTGGGACTTGCTGCCTCCTTG	0.596																																						ENST00000500254.2																			0				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(406-411)aag>a		proline-rich protein BstNI subfamily 1																																				SO:0001651	inframe_deletion	5542					extracellular region		g.chr12:11506229_11506231delTGC		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.407_409delGCA	12.37:g.11506232_11506234delTGC	ENSP00000420826:p.Ser136del					PRB1_ENST00000546254.1_In_Frame_Del_p.SK136del|PRB1_ENST00000545626.1_In_Frame_Del_p.SK116del	p.SK136del	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		4	444_446	-			330		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	In_Frame_Del	DEL	ENST00000500254.2	37	c.407_409delGCA	CCDS8642.1																																																																																				0.596	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		32	626						32	626	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546135	11546137	+	In_Frame_Del	DEL	TGC	TGC	-	rs377670181		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:11546135_11546137delTGC	ENST00000389362.4	-	3	910_912	c.875_877delGCA	c.(874-879)agcaag>aag	p.S292del	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	292	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTCGGGACTTGCTGCCTCCTTG	0.606																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(874-879)aag>a		proline-rich protein BstNI subfamily 2				3,4247		0,3,2122							0.1			209	4,8240		0,4,4118	no	coding	PRB2	NM_006248.3		0,7,6240	A1A1,A1R,RR		0.0485,0.0706,0.056				7,12487				SO:0001651	inframe_deletion	653247							g.chr12:11546135_11546137delTGC	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.875_877delGCA	12.37:g.11546138_11546140delTGC	ENSP00000374013:p.Ser292del					PRB1_ENST00000546254.1_Intron	p.SK292del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	910_912	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.875_877delGCA	CCDS41757.2																																																																																				0.606	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		16	1096						16	1096	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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			27	1203						27	1203	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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	193						11	193	---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14940365	14940366	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:14940365_14940366insG	ENST00000261167.2	-	12	1792_1793	c.1559_1560insC	c.(1558-1560)cctfs	p.P520fs		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	520	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.G521fs*28(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGAACAGCCCAGGGGGGGCAGG	0.55																																						ENST00000261167.2																			1	Insertion - Frameshift(1)	p.G521fs*28(1)	large_intestine(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(1558-1560)cggfs		WW domain binding protein 11																																				SO:0001589	frameshift_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14940365_14940366insG	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1560dupC	12.37:g.14940372_14940372dupG	ENSP00000261167:p.Pro520fs					WBP11_ENST00000537574.1_Frame_Shift_Ins_p.R486fs	p.R520fs	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN			12	1792_1793	-			520			Pro-rich.		Q96AY8	Frame_Shift_Ins	INS	ENST00000261167.2	37	c.1559_1560insC	CCDS8666.1																																																																																				0.550	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		9	238						9	238	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G	rs200088180		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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			13	261						13	261	---	---	---	---
TROAP	10024	broad.mit.edu	37	12	49724676	49724677	+	Frame_Shift_Ins	INS	-	-	C	rs530806755		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:49724676_49724677insC	ENST00000257909.3	+	13	2124_2125	c.2048_2049insC	c.(2047-2052)agccccfs	p.SP683fs	TROAP_ENST00000551245.1_Frame_Shift_Ins_p.SP683fs|TROAP_ENST00000547923.1_Frame_Shift_Ins_p.SP362fs	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	683	Cys-rich.				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						CTTTGTGCCAGCCCCCCTATCT	0.569																																						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.(2047-2049)accfs		trophinin associated protein																																				SO:0001589	frameshift_variant	10024				cell adhesion	cytoplasm		g.chr12:49724676_49724677insC	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.2054dupC	12.37:g.49724682_49724682dupC	ENSP00000257909:p.Ser683fs					TROAP_ENST00000547923.1_Frame_Shift_Ins_p.T362fs|TROAP_ENST00000257909.3_Frame_Shift_Ins_p.T683fs	p.T683fs			Q12815	TROAP_HUMAN			13	2159_2160	+			683			Cys-rich.		F8VSF9|Q6PJU7|Q8N5B2	Frame_Shift_Ins	INS	ENST00000257909.3	37	c.2048_2049insC	CCDS8784.1																																																																																				0.569	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		8	521						8	521	---	---	---	---
KRT79	338785	broad.mit.edu	37	12	53215777	53215778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:53215777_53215778insC	ENST00000330553.5	-	9	1520_1521	c.1486_1487insG	c.(1486-1488)gccfs	p.A496fs		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	496	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCCTTGGTGGCCCCCCCACTC	0.619																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1486-1488)cacfs		keratin 79																																				SO:0001589	frameshift_variant	338785					keratin filament	structural molecule activity	g.chr12:53215777_53215778insC	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1487dupG	12.37:g.53215784_53215784dupC	ENSP00000328358:p.Ala496fs						p.H496fs	NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN			9	1520_1521	-			496			Tail.		Q6P465|Q7Z793	Frame_Shift_Ins	INS	ENST00000330553.5	37	c.1486_1487insG	CCDS8839.1																																																																																				0.619	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		7	128						7	128	---	---	---	---
AMHR2	269	broad.mit.edu	37	12	53819644	53819645	+	Frame_Shift_Ins	INS	-	-	G	rs374370282|rs369599312		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:53819644_53819645insG	ENST00000257863.4	+	6	873_874	c.793_794insG	c.(793-795)cggfs	p.R265fs	AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.R265fs|AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.R265fs	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.R265W(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CACTGCCAGCCGGGGGGGTCCT	0.579																																						ENST00000257863.4																			1	Substitution - Missense(1)	p.R265W(1)	large_intestine(1)	breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(793-795)gggfs		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53819644_53819645insG	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.800dupG	12.37:g.53819651_53819651dupG	ENSP00000257863:p.Arg265fs					AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.G265fs|AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.G265fs	p.G265fs	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			6	873_874	+			265			Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Frame_Shift_Ins	INS	ENST00000257863.4	37	c.793_794insG	CCDS8858.1																																																																																				0.579	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		8	134						8	134	---	---	---	---
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:53856277_53856278insC	ENST00000439930.3	+	7	539_540	c.517_518insC	c.(517-519)tccfs	p.S173fs	PCBP2_ENST00000359282.5_Splice_Site_p.S169fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000455667.3_Splice_Site_p.S169fs|PCBP2_ENST00000437231.1_Splice_Site_p.S169fs|PCBP2_ENST00000552296.2_Splice_Site_p.S169fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000603815.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000541275.1_Splice_Site_p.S169fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000546463.1_Splice_Site_p.S169fs			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_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|RP11-793H13.8_ENST00000547717.1_RNA|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_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice	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		14	239						14	239	---	---	---	---
NPFF	8620	broad.mit.edu	37	12	53898183	53898184	+	IGR	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:53898183_53898184insC	ENST00000267017.3	-	0	592				TARBP2_ENST00000266987.2_Frame_Shift_Ins_p.SP142fs|TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.SP51fs|TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.SP121fs|TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.SP121fs	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						TCCTTCAGGAGCCCCCCCATGG	0.564																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(424-426)accfs		TAR (HIV-1) RNA binding protein 2																																				SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53898183_53898184insC	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53898190_53898190dupC						TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.T121fs|TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.T51fs|TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.T121fs	p.T142fs	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN			5	908_909	+			142					Q3SXL4	Frame_Shift_Ins	INS	ENST00000267017.3	37	c.425_426insC	CCDS8862.1																																																																																				0.564	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		7	136						7	136	---	---	---	---
OR6C4	341418	broad.mit.edu	37	12	55945453	55945454	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:55945453_55945454insG	ENST00000394256.2	+	1	471_472	c.443_444insG	c.(442-447)ttggggfs	p.LG148fs	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	148						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(1)|large_intestine(3)|lung(5)|skin(1)	11						TGCTCCTGGTTGGGGGGATTCC	0.455																																						ENST00000394256.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(442-444)tggfs		olfactory receptor, family 6, subfamily C, member 4																																				SO:0001589	frameshift_variant	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945453_55945454insG	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.449dupG	12.37:g.55945459_55945459dupG	ENSP00000377799:p.Leu148fs					RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	p.W148fs	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN			1	471_472	+			148					A8MZG7|B2RNN2|Q6IFK1	Frame_Shift_Ins	INS	ENST00000394256.2	37	c.443_444insG	CCDS31827.1																																																																																				0.455	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			11	462						11	462	---	---	---	---
DNAJC14	85406	broad.mit.edu	37	12	56222209	56222210	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317269.3_Frame_Shift_Ins_p.P78fs|RP11-762I7.5_ENST00000546837.1_5'Flank			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		9	453						9	453	---	---	---	---
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2170-2172)cccfs	p.P724fs	DGKA_ENST00000551156.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	724					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(2167-2172)ccccccfs		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347513_56347514insC	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2176dupC	12.37:g.56347520_56347520dupC	ENSP00000328405:p.Pro724fs					DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR	p.PP723fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			24	2623_2624	+			723					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Frame_Shift_Ins	INS	ENST00000331886.5	37	c.2169_2170insC	CCDS8896.1																																																																																				0.579	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			13	357						13	357	---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56490961	56490962	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:56490961_56490962insG	ENST00000267101.3	+	20	2847_2848	c.2407_2408insG	c.(2407-2409)cggfs	p.R803fs	ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000415288.2_Frame_Shift_Ins_p.R744fs|ERBB3_ENST00000450146.2_Frame_Shift_Ins_p.R160fs|ERBB3_ENST00000553131.1_Frame_Shift_Ins_p.R44fs	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	803	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GAGACAACACCGGGGGGCACTG	0.54																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(2407-2409)gggfs		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3																																				SO:0001589	frameshift_variant	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56490961_56490962insG	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2413dupG	12.37:g.56490967_56490967dupG	ENSP00000267101:p.Arg803fs					ERBB3_ENST00000450146.2_Frame_Shift_Ins_p.G160fs|ERBB3_ENST00000553131.1_Frame_Shift_Ins_p.G44fs|ERBB3_ENST00000415288.2_Frame_Shift_Ins_p.G744fs	p.G803fs	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		20	2847_2848	+			803			Protein kinase.		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Frame_Shift_Ins	INS	ENST00000267101.3	37	c.2407_2408insG	CCDS31833.1																																																																																				0.540	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			8	236						8	236	---	---	---	---
NACA	4666	broad.mit.edu	37	12	57114417	57114418	+	Frame_Shift_Ins	INS	-	-	G	rs192511809	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:57114417_57114418insG	ENST00000454682.1	-	3	1177_1178	c.896_897insC	c.(895-897)ccafs	p.P299fs	NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.P299fs|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	299	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGAAAATCTGGGGGGGTGTT	0.49			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(895-897)cgafs		nascent polypeptide-associated complex alpha subunit																																				SO:0001589	frameshift_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57114417_57114418insG	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.897dupC	12.37:g.57114424_57114424dupG	ENSP00000403817:p.Pro299fs					NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.R299fs|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron	p.R299fs	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	1177_1178	-			0						Frame_Shift_Ins	INS	ENST00000454682.1	37	c.896_897insC																																																																																					0.490	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		7	120						7	120	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:57572241_57572242insG	ENST00000243077.3	+	27	4927_4928	c.4461_4462insG	c.(4462-4464)gggfs	p.G1488fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1488					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4459-4464)taggggfs		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57572241_57572242insG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4468dupG	12.37:g.57572248_57572248dupG	ENSP00000243077:p.Gly1488fs						p.*G1487fs	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	27	4927_4928	+			1487					Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	ENST00000243077.3	37	c.4461_4462insG	CCDS8932.1																																																																																				0.589	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		9	242						9	242	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G	rs368789621		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000546141.1_Frame_Shift_Ins_p.W231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.W144fs	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		50	895						50	895	---	---	---	---
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)ccafs	p.P200fs	DCTN2_ENST00000551400.1_5'Flank|DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.P205fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.P205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.P177fs	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_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs	p.R200fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	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		11	230						11	230	---	---	---	---
TMCC3	57458	broad.mit.edu	37	12	94975857	94975858	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:94975857_94975858insG	ENST00000261226.4	-	2	666_667	c.535_536insC	c.(535-537)catfs	p.H179fs	TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.H148fs	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	179						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CTCCATGCAATGGGGGGCAGTT	0.495																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(535-537)ttgfs		transmembrane and coiled-coil domain family 3																																				SO:0001589	frameshift_variant	57458					integral to membrane		g.chr12:94975857_94975858insG	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.536dupC	12.37:g.94975863_94975863dupG	ENSP00000261226:p.His179fs					TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.L148fs	p.L179fs	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	666_667	-			179					Q8IWB2	Frame_Shift_Ins	INS	ENST00000261226.4	37	c.535_536insC	CCDS31877.1																																																																																				0.495	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		11	733						11	733	---	---	---	---
MYBPC1	4604	broad.mit.edu	37	12	102057273	102057274	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:102057273_102057274insC	ENST00000550270.1	+	20	2216_2217	c.2216_2217insC	c.(2215-2220)cgccccfs	p.RP739fs	MYBPC1_ENST00000545503.2_Frame_Shift_Ins_p.RP739fs|MYBPC1_ENST00000452455.2_Frame_Shift_Ins_p.RP739fs|MYBPC1_ENST00000541119.1_Frame_Shift_Ins_p.RP727fs|MYBPC1_ENST00000551300.1_Frame_Shift_Ins_p.RP640fs|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Frame_Shift_Ins_p.RP739fs|MYBPC1_ENST00000392934.3_Frame_Shift_Ins_p.RP726fs|MYBPC1_ENST00000536007.1_Frame_Shift_Ins_p.RP720fs|MYBPC1_ENST00000361685.2_Frame_Shift_Ins_p.RP764fs|MYBPC1_ENST00000547405.1_Frame_Shift_Ins_p.RP713fs|MYBPC1_ENST00000441232.1_Frame_Shift_Ins_p.RP739fs|MYBPC1_ENST00000361466.2_Frame_Shift_Ins_p.RP764fs|MYBPC1_ENST00000553190.1_Frame_Shift_Ins_p.RP739fs|MYBPC1_ENST00000549145.1_Frame_Shift_Ins_p.RP752fs|MYBPC1_ENST00000547509.1_Frame_Shift_Ins_p.RP725fs			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	739	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATGAGGTGGCGCCCCCCAGACC	0.436																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(2254-2256)cccfs		myosin binding protein C, slow type																																				SO:0001589	frameshift_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102057273_102057274insC		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2222dupC	12.37:g.102057279_102057279dupC	ENSP00000449702:p.Arg739fs					MYBPC1_ENST00000541119.1_Frame_Shift_Ins_p.P727fs|MYBPC1_ENST00000536007.1_Frame_Shift_Ins_p.P720fs|MYBPC1_ENST00000392934.3_Frame_Shift_Ins_p.P726fs|MYBPC1_ENST00000545503.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000452455.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000361466.2_Frame_Shift_Ins_p.P764fs|MYBPC1_ENST00000361685.2_Frame_Shift_Ins_p.P764fs|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000551300.1_Frame_Shift_Ins_p.P640fs|MYBPC1_ENST00000441232.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000550270.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000547509.1_Frame_Shift_Ins_p.P725fs|MYBPC1_ENST00000553190.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000547405.1_Frame_Shift_Ins_p.P713fs	p.P752fs			Q00872	MYPC1_HUMAN			21	2355_2356	+			739	Y -> H (in Ref. 3; CAD38925).		Fibronectin type-III 2.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Frame_Shift_Ins	INS	ENST00000550270.1	37	c.2255_2256insC	CCDS9085.1																																																																																				0.436	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			7	328						7	328	---	---	---	---
CORO1C	23603	broad.mit.edu	37	12	109048188	109048189	+	Splice_Site	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:109048188_109048189insG	ENST00000261401.3	-	7	923		c.e7-2		CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Splice_Site|CORO1C_ENST00000549772.1_Splice_Site|CORO1C_ENST00000421578.2_Splice_Site|CORO1C_ENST00000420959.2_Splice_Site	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C						actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						CATATTTTTCTGGGGGGAAGAT	0.327																																						ENST00000261401.3																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						c.e7-2		coronin, actin binding protein, 1C																																				SO:0001630	splice_region_variant	23603				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	g.chr12:109048188_109048189insG	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.751-2->C	12.37:g.109048194_109048194dupG						CORO1C_ENST00000421578.2_Splice_Site|CORO1C_ENST00000541050.1_Splice_Site|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000420959.2_Splice_Site|CORO1C_ENST00000549772.1_Splice_Site		NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN			7	923	-								A7MAP0|A7MAP1|B3KU12|Q9NSK5	Splice_Site	INS	ENST00000261401.3	37		CCDS9120.1																																																																																				0.327	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325	Intron	8	584						8	584	---	---	---	---
USP30	84749	broad.mit.edu	37	12	109495864	109495865	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:109495864_109495865insC	ENST00000257548.5	+	3	420_421	c.327_328insC	c.(328-330)cccfs	p.P110fs	RNA5SP372_ENST00000390836.1_RNA|USP30_ENST00000392784.2_Frame_Shift_Ins_p.P79fs	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	110	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCAGAAGGAGCCCCCCTCACA	0.485																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(325-330)gaccccfs		ubiquitin specific peptidase 30																																				SO:0001589	frameshift_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109495864_109495865insC	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.333dupC	12.37:g.109495870_109495870dupC	ENSP00000257548:p.Pro110fs					USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs	p.DP109fs	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			3	420_421	+			109					Q8WTU7|Q96JX4|Q9BSS3	Frame_Shift_Ins	INS	ENST00000257548.5	37	c.327_328insC	CCDS9123.2																																																																																				0.485	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		10	1672						10	1672	---	---	---	---
UBE3B	89910	broad.mit.edu	37	12	109939222	109939223	+	Frame_Shift_Ins	INS	-	-	G	rs368887776		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:109939222_109939223insG	ENST00000342494.3	+	13	1760_1761	c.1165_1166insG	c.(1165-1167)tggfs	p.W389fs	UBE3B_ENST00000434735.2_Frame_Shift_Ins_p.W389fs|UBE3B_ENST00000280774.5_Frame_Shift_Ins_p.W389fs	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	389					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCAGTTCTTGTGGGGGGTGCCT	0.554																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(1165-1167)gggfs		ubiquitin protein ligase E3B																																				SO:0001589	frameshift_variant	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109939222_109939223insG	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1171dupG	12.37:g.109939228_109939228dupG	ENSP00000340596:p.Trp389fs					UBE3B_ENST00000280774.5_Frame_Shift_Ins_p.G389fs|UBE3B_ENST00000434735.2_Frame_Shift_Ins_p.G389fs	p.G389fs	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			13	1760_1761	+			389					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Frame_Shift_Ins	INS	ENST00000342494.3	37	c.1165_1166insG	CCDS9129.1																																																																																				0.554	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		12	342						12	342	---	---	---	---
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G	rs369159999		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC8B1_ENST00000553238.1_Intron|SLC8B1_ENST00000546737.1_Intron|SLC8B1_ENST00000202831.3_Splice_Site			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_ENST00000546737.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site|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	12	862						12	862	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:117977604_117977605insG	ENST00000339824.5	-	10	2333_2334	c.1606_1607insC	c.(1606-1608)ctcfs	p.L536fs	KSR2_ENST00000302438.5_Frame_Shift_Ins_p.L233fs|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Frame_Shift_Ins_p.L507fs			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1519-1521)cccfs		kinase suppressor of ras 2																																				SO:0001589	frameshift_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977604_117977605insG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1607dupC	12.37:g.117977611_117977611dupG	ENSP00000339952:p.Leu536fs					KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs	p.P507fs	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			10	1573_1574	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		536					A0PJT2|Q3B828|Q8N775	Frame_Shift_Ins	INS	ENST00000339824.5	37	c.1519_1520insC																																																																																					0.634	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		11	189						11	189	---	---	---	---
SIRT4	23409	broad.mit.edu	37	12	120750293	120750294	+	Frame_Shift_Ins	INS	-	-	G	rs546233791	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:120750293_120750294insG	ENST00000202967.4	+	3	591_592	c.532_533insG	c.(532-534)cggfs	p.R178fs	RNU6-1088P_ENST00000516850.1_RNA|SIRT4_ENST00000537892.1_Intron	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAGACTCCCCGGGGGGTGCTG	0.579																																						ENST00000202967.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(532-534)gggfs		sirtuin 4																																				SO:0001589	frameshift_variant	23409				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr12:120750293_120750294insG	AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.538dupG	12.37:g.120750299_120750299dupG	ENSP00000202967:p.Arg178fs					SIRT4_ENST00000537892.1_Intron	p.G178fs	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN			3	591_592	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		178			Deacetylase sirtuin-type.			Frame_Shift_Ins	INS	ENST00000202967.4	37	c.532_533insG	CCDS9194.1																																																																																				0.579	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240		8	362						8	362	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)gggctgfs	p.L116fs	MSI1_ENST00000546622.1_5'Flank	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(343-348)ggtgtcfs		musashi RNA-binding protein 1																																				SO:0001589	frameshift_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120800902_120800903insC	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.346dupG	12.37:g.120800909_120800909dupC	ENSP00000257552:p.Leu116fs						p.V116fs	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			6	433_434	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		116			RRM 2.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Frame_Shift_Ins	INS	ENST00000257552.2	37	c.345_346insG	CCDS9196.1																																																																																				0.564	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		19	373						19	373	---	---	---	---
VPS33A	65082	broad.mit.edu	37	12	122720396	122720397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:122720396_122720397insC	ENST00000267199.4	-	11	1488_1489	c.1376_1377insG	c.(1375-1377)ggcfs	p.G459fs	RP11-512M8.5_ENST00000535844.1_Frame_Shift_Ins_p.G420fs	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	459					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AATTGTTTCTGCCCCCCGTCTG	0.495																																						ENST00000267199.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28						c.(1375-1377)gagfs		vacuolar protein sorting 33 homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122720396_122720397insC	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1377dupG	12.37:g.122720402_122720402dupC	ENSP00000267199:p.Gly459fs					RP11-512M8.5_ENST00000535844.1_Frame_Shift_Ins_p.E420fs	p.E459fs	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	11	1488_1489	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		459					Q547V4|Q9H5Q0	Frame_Shift_Ins	INS	ENST00000267199.4	37	c.1376_1377insG	CCDS9231.1																																																																																				0.495	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			10	425						10	425	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080|rs370605552	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		16	259						16	259	---	---	---	---
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr13:97928603_97928604insC	ENST00000376673.3	+	2	895_896	c.114_115insC	c.(115-117)cccfs	p.P39fs	MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000345429.6_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.P39fs			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	39					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AATTTGCTCATCCCCCCAAAAG	0.411																																						ENST00000345429.6																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17						c.(112-117)caccccfs		muscleblind-like splicing regulator 2																																				SO:0001589	frameshift_variant	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:97928603_97928604insC	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.120dupC	13.37:g.97928609_97928609dupC	ENSP00000365861:p.Pro39fs					MBNL2_ENST00000376673.3_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.HP38fs	p.HP38fs	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		2	895_896	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		38					Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Frame_Shift_Ins	INS	ENST00000376673.3	37	c.114_115insC																																																																																					0.411	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778		7	428						7	428	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20295776	20295777	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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																																						ENST00000315947.1																			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_ENST00000568211.1_Frame_Shift_Ins_p.P57fs	p.P57fs	NM_001004723.1	NP_001004723.1	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			9	833						9	833	---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389294	20389294	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:20389294delT	ENST00000315915.4	+	1	554	c.529delT	c.(529-531)tttfs	p.F178fs		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTAGACAGCTTTTTTTGTGA	0.423																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(529-531)ttfs		olfactory receptor, family 4, subfamily K, member 5							252.0	267.0	262.0					14																	20389294		2203	4300	6503	SO:0001589	frameshift_variant	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389294delT	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.529delT	14.37:g.20389294delT	ENSP00000319511:p.Phe178fs						p.F178fs	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	554	+	all_cancers(95;0.00108)		178					Q6IFA7	Frame_Shift_Del	DEL	ENST00000315915.4	37	c.529delT	CCDS32024.1																																																																																				0.423	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		10	1254						10	1254	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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			7	1531						7	1531	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20846337	20846338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:20846337_20846338insC	ENST00000262715.5	-	39	5606_5607	c.5566_5567insG	c.(5566-5568)gttfs	p.V1856fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.V1748fs|TEP1_ENST00000545983.1_Frame_Shift_Ins_p.V194fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1856					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CACAGCCACAACCCCCCCAGGC	0.624																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(5566-5568)tgtfs		telomerase-associated protein 1																																				SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20846337_20846338insC		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5567dupG	14.37:g.20846344_20846344dupC	ENSP00000262715:p.Val1856fs					TEP1_ENST00000545983.1_Frame_Shift_Ins_p.C194fs|TEP1_ENST00000556935.1_Frame_Shift_Ins_p.C1748fs	p.C1856fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	39	5606_5607	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1856					A0AUV9	Frame_Shift_Ins	INS	ENST00000262715.5	37	c.5566_5567insG	CCDS9548.1																																																																																				0.624	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		7	156						7	156	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTGCCACACCCCCCCACTC	0.584																																						ENST00000262715.5																			1	Insertion - Frameshift(1)	p.V1082fs*47(1)	large_intestine(1)	NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(3241-3243)ggtfs		telomerase-associated protein 1																																				SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852646_20852647insC		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3243dupG	14.37:g.20852653_20852653dupC	ENSP00000262715:p.Gly1081fs					TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	p.G1081fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	23	3282_3283	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1081					A0AUV9	Frame_Shift_Ins	INS	ENST00000262715.5	37	c.3242_3243insG	CCDS9548.1																																																																																				0.584	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		23	506						23	506	---	---	---	---
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:21546603_21546604insG	ENST00000298694.4	+	10	2329_2330	c.2202_2203insG	c.(2203-2205)gggfs	p.G735fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.G735fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	735						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCAGAGGGATGGGGGGGCCAT	0.629																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(2200-2205)gaggggfs		Rho guanine nucleotide exchange factor (GEF) 40																																				SO:0001589	frameshift_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21546603_21546604insG		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2209dupG	14.37:g.21546610_21546610dupG	ENSP00000298694:p.Gly735fs					ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.EG734fs	p.EG734fs			Q8TER5	ARH40_HUMAN			10	2329_2330	+			734					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Frame_Shift_Ins	INS	ENST00000298694.4	37	c.2202_2203insG	CCDS32041.1																																																																																				0.629	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			14	183						14	183	---	---	---	---
ARHGEF40	55701	broad.mit.edu	37	14	21556191	21556192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:21556191_21556192insC	ENST00000298694.4	+	22	4579_4580	c.4452_4453insC	c.(4453-4455)cccfs	p.P1485fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.P1437fs|RP11-998D10.7_ENST00000554733.2_lincRNA			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1485						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCAGCCTGCAACCCCCCCACCC	0.574																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(4450-4455)caccccfs		Rho guanine nucleotide exchange factor (GEF) 40				6,4258		0,6,2126						0.3	0.6			68	4,8250		0,4,4123	no	frameshift	ARHGEF40	NM_018071.3		0,10,6249	A1A1,A1R,RR		0.0485,0.1407,0.0799				10,12508				SO:0001589	frameshift_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21556191_21556192insC		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.4459dupC	14.37:g.21556198_21556198dupC	ENSP00000298694:p.Pro1485fs					ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.HP1436fs	p.HP1484fs			Q8TER5	ARH40_HUMAN			22	4579_4580	+			1484					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Frame_Shift_Ins	INS	ENST00000298694.4	37	c.4452_4453insC	CCDS32041.1																																																																																				0.574	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			8	117						8	117	---	---	---	---
SALL2	6297	broad.mit.edu	37	14	21992275	21992276	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:21992275_21992276insG	ENST00000327430.3	-	2	1880_1881	c.1586_1587insC	c.(1585-1587)ccafs	p.P529fs	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Frame_Shift_Ins_p.P392fs|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTCACTCCCTGGGGGGGTGTT	0.53																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(1585-1587)cggfs		spalt-like transcription factor 2																																				SO:0001589	frameshift_variant	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21992275_21992276insG	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1587dupC	14.37:g.21992282_21992282dupG	ENSP00000333537:p.Pro529fs					SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs|SALL2_ENST00000538754.1_Intron	p.R529fs	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	1880_1881	-	all_cancers(95;0.000662)		529					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Frame_Shift_Ins	INS	ENST00000327430.3	37	c.1586_1587insC	CCDS32045.1																																																																																				0.530	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		13	234						13	234	---	---	---	---
OR10G2	26534	broad.mit.edu	37	14	22102924	22102925	+	Frame_Shift_Ins	INS	-	-	G	rs150140072	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:22102924_22102925insG	ENST00000542433.1	-	1	171_172	c.74_75insC	c.(73-75)ccafs	p.P25fs		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCTTAGATTTGGGGGGTGAGA	0.48																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(73-75)caafs		olfactory receptor, family 10, subfamily G, member 2																																				SO:0001589	frameshift_variant	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102924_22102925insG		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.75dupC	14.37:g.22102930_22102930dupG	ENSP00000445383:p.Pro25fs						p.Q25fs	NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	171_172	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	25					B2RPD0	Frame_Shift_Ins	INS	ENST00000542433.1	37	c.74_75insC	CCDS32047.1																																																																																				0.480	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			8	414						8	414	---	---	---	---
TRAC	28755	broad.mit.edu	37	14	23020674	23020675	+	RNA	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:23020674_23020675insC	ENST00000478163.3	+	0	551_552							P01848	TCA_HUMAN	T cell receptor alpha constant						regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CCACCTCTGTGCCCCCCCGGCA	0.554																																						ENST00000478163.3																			0																																																			28755							g.chr14:23020674_23020675insC	X02592		14q11.2	2012-02-07			ENSG00000229164	ENSG00000277734		"""T cell receptors / TRA locus"""	12029	other	T cell receptor gene		186880				3875483, 8188290	Standard	NG_001332		Approved			P01848	OTTHUMG00000028683		14.37:g.23020681_23020681dupC														0	551_552	+									RNA	INS	ENST00000478163.3	37																																																																																						0.554	TRAC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|exp_conf	TR_C_gene	TR_C_gene	OTTHUMT00000071613.3	NG_001332		7	349						7	349	---	---	---	---
RBM23	55147	broad.mit.edu	37	14	23371029	23371030	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:23371029_23371030insG	ENST00000359890.3	-	13	1504_1505	c.1309_1310insC	c.(1309-1311)cagfs	p.Q437fs	RBM23_ENST00000542016.2_Frame_Shift_Ins_p.Q267fs|RBM23_ENST00000346528.5_Frame_Shift_Ins_p.Q403fs|RBM23_ENST00000399922.2_Frame_Shift_Ins_p.Q421fs|RBM23_ENST00000555209.1_Frame_Shift_Ins_p.Q187fs	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	437					mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TCACATGGTCTGGGGGGTAAAG	0.505																																						ENST00000359890.3																			0				endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10						c.(1309-1311)gacfs		RNA binding motif protein 23																																				SO:0001589	frameshift_variant	55147				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr14:23371029_23371030insG	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.1310dupC	14.37:g.23371035_23371035dupG	ENSP00000352956:p.Gln437fs					RBM23_ENST00000555209.1_Frame_Shift_Ins_p.D187fs|RBM23_ENST00000346528.5_Frame_Shift_Ins_p.D403fs|RBM23_ENST00000542016.2_Frame_Shift_Ins_p.D267fs|RBM23_ENST00000399922.2_Frame_Shift_Ins_p.D421fs	p.D437fs	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN		GBM - Glioblastoma multiforme(265;0.0128)	13	1504_1505	-	all_cancers(95;4.69e-05)		437					D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Frame_Shift_Ins	INS	ENST00000359890.3	37	c.1309_1310insC	CCDS41921.1																																																																																				0.505	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			8	1374						8	1374	---	---	---	---
GZMH	2999	broad.mit.edu	37	14	25075937	25075938	+	Frame_Shift_Ins	INS	-	-	C	rs201865911		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:25075937_25075938insC	ENST00000216338.4	-	5	656_657	c.612_613insG	c.(610-615)gggcccfs	p.P205fs	RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000557220.2_Frame_Shift_Ins_p.P74fs|GZMH_ENST00000382548.4_Frame_Shift_Ins_p.P119fs	NM_033423.4	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	205	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)	membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CACACGAGGGGCCCCCCGGAGT	0.535																																						ENST00000216338.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12						c.(610-615)ggccctfs		granzyme H (cathepsin G-like 2, protein h-CCPX)																																				SO:0001589	frameshift_variant	2999				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	g.chr14:25075937_25075938insC	M72150	CCDS9632.1, CCDS59243.1	14q11.2	2003-10-20			ENSG00000100450	ENSG00000100450			4710	protein-coding gene	gene with protein product		116831		CTSGL2		2049336	Standard	NM_033423		Approved	CGL-2, CCP-X, CTLA1, CSP-C	uc001wpr.2	P20718	OTTHUMG00000140185	ENST00000216338.4:c.613dupG	14.37:g.25075943_25075943dupC	ENSP00000216338:p.Pro205fs					RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000557220.2_Frame_Shift_Ins_p.GP73fs|GZMH_ENST00000382548.4_Frame_Shift_Ins_p.GP118fs	p.GP204fs	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN		GBM - Glioblastoma multiforme(265;0.0267)	5	656_657	-			204			Peptidase S1.		G3V2C5|Q6XGZ0|Q6XGZ1	Frame_Shift_Ins	INS	ENST00000216338.4	37	c.612_613insG	CCDS9632.1																																																																																				0.535	GZMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276538.2	NM_033423		7	312						7	312	---	---	---	---
ABHD12B	145447	broad.mit.edu	37	14	51347189	51347190	+	Frame_Shift_Ins	INS	-	-	G	rs141865189|rs200952659		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:51347189_51347190insG	ENST00000337334.2	+	4	370_371	c.355_356insG	c.(355-357)cggfs	p.R119fs	ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.R12fs|ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.R42fs|ABHD12B_ENST00000554241.1_3'UTR|PYGL_ENST00000532462.1_Intron	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	119							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					CCCCAGCTGCCGGGGGGAAGAT	0.49																																						ENST00000337334.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10						c.(355-357)gggfs		abhydrolase domain containing 12B																																				SO:0001589	frameshift_variant	145447						hydrolase activity	g.chr14:51347189_51347190insG	BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"""Abhydrolase domain containing"""	19837	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 29"""	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.361dupG	14.37:g.51347195_51347195dupG	ENSP00000336693:p.Arg119fs					ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.G12fs|ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.G42fs|PYGL_ENST00000532462.1_Intron	p.G119fs	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN			4	370_371	+	all_epithelial(31;0.00481)|Breast(41;0.148)		119					Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Frame_Shift_Ins	INS	ENST00000337334.2	37	c.355_356insG	CCDS55916.1																																																																																				0.490	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1			7	393						7	393	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		9	317						9	317	---	---	---	---
DCAF5	8816	broad.mit.edu	37	14	69588975	69588976	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:69588975_69588976insA	ENST00000341516.5	-	2	463_464	c.316_317insT	c.(316-318)tgcfs	p.C106fs	DCAF5_ENST00000389997.6_Frame_Shift_Ins_p.C106fs|DCAF5_ENST00000557386.1_Frame_Shift_Ins_p.C106fs|DCAF5_ENST00000556847.1_Frame_Shift_Ins_p.C24fs|DCAF5_ENST00000554215.1_Frame_Shift_Ins_p.C24fs	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	106					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)		p.C106fs*10(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GAAAGCCAGGCAAAAAATGTTG	0.485																																						ENST00000341516.5																			1	Insertion - Frameshift(1)	p.C106fs*10(1)	upper_aerodigestive_tract(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(316-318)cctfs		DDB1 and CUL4 associated factor 5																																				SO:0001589	frameshift_variant	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69588975_69588976insA	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.317dupT	14.37:g.69588981_69588981dupA	ENSP00000341351:p.Cys106fs					DCAF5_ENST00000389997.6_Frame_Shift_Ins_p.P106fs|DCAF5_ENST00000556847.1_Frame_Shift_Ins_p.P24fs|DCAF5_ENST00000557386.1_Frame_Shift_Ins_p.P106fs|DCAF5_ENST00000554215.1_Frame_Shift_Ins_p.P24fs	p.P106fs	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN			2	463_464	-			106					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Frame_Shift_Ins	INS	ENST00000341516.5	37	c.316_317insT	CCDS32106.1																																																																																				0.485	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		7	800						7	800	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)tggfs	p.W317fs	GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.W317fs|GALNT16_ENST00000448469.3_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		7	249						7	249	---	---	---	---
MED6	10001	broad.mit.edu	37	14	71051554	71051555	+	Frame_Shift_Ins	INS	-	-	G	rs145634622	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:71051554_71051555insG	ENST00000256379.5	-	8	745_746	c.716_717insC	c.(715-717)cctfs	p.P239fs	MED6_ENST00000554963.1_Frame_Shift_Ins_p.P239fs|MED6_ENST00000430055.2_Frame_Shift_Ins_p.P246fs|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		10	1170						10	1170	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72165808	72165809	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:72165808_72165809insG	ENST00000555818.1	+	11	3833_3834	c.3485_3486insG	c.(3484-3489)gtggggfs	p.VG1162fs	SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.VG1162fs|SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.VG637fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.VG1162fs	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1162					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGTTCTGTGGGGGGCACTT	0.495																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(3484-3486)gggfs		signal-induced proliferation-associated 1 like 1																																				SO:0001589	frameshift_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72165808_72165809insG	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3491dupG	14.37:g.72165814_72165814dupG	ENSP00000450832:p.Val1162fs					SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.G637fs	p.G1162fs	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	11	3833_3834	+			1162					J3KP19|O95321|Q9UDU4|Q9UNU4	Frame_Shift_Ins	INS	ENST00000555818.1	37	c.3485_3486insG	CCDS9807.1																																																																																				0.495	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		9	372						9	372	---	---	---	---
CCDC176	80127	broad.mit.edu	37	14	74514756	74514760	+	Frame_Shift_Del	DEL	TACTT	TACTT	-	rs185884398	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:74514756_74514760delTACTT	ENST00000394009.3	+	7	894_898	c.771_775delTACTT	c.(769-777)catactttafs	p.TL258fs	CCDC176_ENST00000489323.1_3'UTR|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_5'UTR	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	258					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)											AAGAGAGTCATACTTTACTTTTACA	0.341																																						ENST00000394009.3																			0											c.(769-777)catafs		coiled-coil domain containing 176																																				SO:0001589	frameshift_variant	80127							g.chr14:74514756_74514760delTACTT	BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.771_775delTACTT	14.37:g.74514761_74514765delTACTT	ENSP00000377577:p.Thr258fs					CCDC176_ENST00000553773.1_5'UTR|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000489323.1_3'UTR	p.HTL257fs	NM_025057.2	NP_079333.2					7	894_898	+								Q0P604|Q9H5P8	Frame_Shift_Del	DEL	ENST00000394009.3	37	c.771_775delTACTT	CCDS32119.2																																																																																				0.341	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1	NM_025057		9	47						9	47	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75248518	75248519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:75248518_75248519insC	ENST00000552421.1	+	4	1896_1897	c.1772_1773insC	c.(1771-1776)ctccccfs	p.LP591fs	YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000325680.7_Frame_Shift_Ins_p.LP591fs			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCACCAGTTCTCCCCCCACCTT	0.599																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(1771-1773)cccfs		YLP motif containing 1																																				SO:0001589	frameshift_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75248518_75248519insC	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1778dupC	14.37:g.75248524_75248524dupC	ENSP00000447921:p.Leu591fs					YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P591fs	p.P591fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	4	1896_1897	+			392					P49752|Q96I64|Q9P1V7	Frame_Shift_Ins	INS	ENST00000552421.1	37	c.1772_1773insC																																																																																					0.599	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		9	571						9	571	---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79270135	79270136	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:79270135_79270136insG	ENST00000554719.1	+	6	1589_1590	c.1098_1099insG	c.(1099-1101)gggfs	p.G367fs	NRXN3_ENST00000335750.5_Frame_Shift_Ins_p.G367fs	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	145					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGAGCTGGATGGGGGGCGTGT	0.54																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(1096-1101)gaggggfs		neurexin 3																																				SO:0001589	frameshift_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79270135_79270136insG	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1104dupG	14.37:g.79270141_79270141dupG	ENSP00000451648:p.Gly367fs					NRXN3_ENST00000335750.5_Frame_Shift_Ins_p.EG366fs	p.EG366fs	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	6	1589_1590	+		Renal(4;0.00876)	144					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Frame_Shift_Ins	INS	ENST00000554719.1	37	c.1098_1099insG	CCDS9870.1																																																																																				0.540	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		7	289						7	289	---	---	---	---
SERPINA1	5265	broad.mit.edu	37	14	94844884	94844885	+	Frame_Shift_Ins	INS	-	-	G	rs143329723|rs121912712	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:94844884_94844885insG	ENST00000448921.1	-	7	1730_1731	c.1158_1159insC	c.(1156-1161)cccgagfs	p.E387fs	SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.E387fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	387	RCL.		E -> K (in Christchurch; dbSNP:rs121912712).		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AACTTGACCTCGGGGGGGATAG	0.49																																						ENST00000448921.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24	GRCh37	CD890162|CI941951	SERPINA1	D|I	rs121912712|rs143329723	c.(1156-1161)ccaggtfs		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	Alpha-1-proteinase inhibitor(DB00058)																																			SO:0001589	frameshift_variant	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94844884_94844885insG	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.1159dupC	14.37:g.94844891_94844891dupG	ENSP00000416066:p.Glu387fs					SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.G387fs	p.G387fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	7	1730_1731	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	387		E -> K (in Christchurch).	RCL.		A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Frame_Shift_Ins	INS	ENST00000448921.1	37	c.1158_1159insC	CCDS9925.1																																																																																				0.490	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		10	255						10	255	---	---	---	---
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs139927975|rs113800876|rs367947132	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226									immunoglobulin heavy variable 4-39																		CCCAGTAGTAACTACTACTGCTG	0.596																																						ENST00000390619.2																			0																	1153,2423		29,1095,664						-0.6	0.0		dbSNP_134	58	1515,6297		125,1265,2516	no	intergenic				154,2360,3180	A1A1,A1R,RR		19.3932,32.2427,23.4282				2668,8720						28394							g.chr14:106877817_106877819delACT	L10094		14q32.33	2012-02-08			ENSG00000211959	ENSG00000211959		"""Immunoglobulins / IGH locus"""	5651	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152067		14.37:g.106877823_106877825delACT														0	224_226	-									RNA	DEL	ENST00000390619.2	37																																																																																						0.596	IGHV4-39-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325161.1	NG_001019		26	159						26	159	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G	rs570771230|rs571384652	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)aggfs	p.R150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		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)		TCTCTCCTGGAGGGGGGGCTTC	0.5													tgggggg|GGGGGGG|GGGGGGGG|complex_insertion	8	0.00159744	0.0045	0.0	5008	,	,		35803	0.0		0.0	False		,,,				2504	0.002					ENST00000332663.2																			3	Substitution - Missense(3)	p.R150M(2)|p.R150W(1)	lung(3)	NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(448-450)gggfs		olfactory receptor, family 4, subfamily M, member 2																																				SO:0001589	frameshift_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369023_22369024insG	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.455dupG	15.37:g.22369030_22369030dupG	ENSP00000329467:p.Arg150fs					RP11-69H14.6_ENST00000558896.1_RNA	p.G150fs	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_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	546_547	+		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)	150					B9EH16|Q6IEY2	Frame_Shift_Ins	INS	ENST00000332663.2	37	c.448_449insG	CCDS32172.1																																																																																				0.500	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			48	1052						48	1052	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34078053	34078054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:34078053_34078054insC	ENST00000389232.4	+	66	9529_9530	c.9459_9460insC	c.(9460-9462)cccfs	p.P3154fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.P3154fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3154					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGAACCTGCCCCCCAGCAC	0.564																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9457-9462)ctccccfs		ryanodine receptor 3																																				SO:0001589	frameshift_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34078053_34078054insC		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9465dupC	15.37:g.34078059_34078059dupC	ENSP00000373884:p.Pro3154fs					RYR3_ENST00000415757.3_Frame_Shift_Ins_p.LP3153fs	p.LP3153fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	66	9529_9530	+		all_lung(180;7.18e-09)	3153					O15175|Q15412	Frame_Shift_Ins	INS	ENST00000389232.4	37	c.9459_9460insC	CCDS45210.1																																																																																				0.564	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			8	605						8	605	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccacgfs	p.T204fs	C15orf52_ENST00000397536.2_5'Flank|C15orf52_ENST00000557973.1_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000559313.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(607-612)cccgcafs		chromosome 15 open reading frame 52																																				SO:0001589	frameshift_variant	388115							g.chr15:40630771_40630772insG	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.610dupC	15.37:g.40630778_40630778dupG	ENSP00000453969:p.Thr204fs		OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	894		p.A204fs	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	5	624_625	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	204					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Frame_Shift_Ins	INS	ENST00000559313.1	37	c.609_610insC	CCDS10055.2																																																																																				0.584	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		11	288						11	288	---	---	---	---
SORD	6652	broad.mit.edu	37	15	45353365	45353366	+	Frame_Shift_Ins	INS	-	-	C	rs200121839|rs11542063	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:45353365_45353366insC	ENST00000267814.9	+	4	546_547	c.366_367insC	c.(367-369)cccfs	p.P123fs	RP11-109D20.1_ENST00000560324.1_RNA|SORD_ENST00000558580.1_Frame_Shift_Ins_p.P102fs	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	123					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		TCTGTGCCACGCCCCCCGATGA	0.53																																						ENST00000267814.9																			0				endometrium(2)|large_intestine(3)|lung(4)	9						c.(364-369)acccccfs		sorbitol dehydrogenase	NADH(DB00157)																																			SO:0001589	frameshift_variant	6652				fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding	g.chr15:45353365_45353366insC		CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.372dupC	15.37:g.45353371_45353371dupC	ENSP00000267814:p.Pro123fs					SORD_ENST00000558580.1_Frame_Shift_Ins_p.TP101fs	p.TP122fs	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	4	546_547	+		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)	122					B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Frame_Shift_Ins	INS	ENST00000267814.9	37	c.366_367insC	CCDS10116.1																																																																																				0.530	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3			15	410						15	410	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53908070	53908071	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:53908070_53908071insT	ENST00000396328.1	-	15	2571_2572	c.2332_2333insA	c.(2332-2334)atgfs	p.M778fs	WDR72_ENST00000557913.1_Frame_Shift_Ins_p.M775fs|WDR72_ENST00000559418.1_Frame_Shift_Ins_p.M788fs|WDR72_ENST00000360509.5_Frame_Shift_Ins_p.M778fs	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	778										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTAGGCTGCATTTTTTTGGAG	0.391																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(2332-2334)gcafs		WD repeat domain 72																																				SO:0001589	frameshift_variant	256764							g.chr15:53908070_53908071insT	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2333dupA	15.37:g.53908077_53908077dupT	ENSP00000379619:p.Met778fs					WDR72_ENST00000559418.1_Frame_Shift_Ins_p.A788fs|WDR72_ENST00000360509.5_Frame_Shift_Ins_p.A778fs|WDR72_ENST00000557913.1_Frame_Shift_Ins_p.A775fs	p.A778fs	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2571_2572	-			778					Q7Z3I3|Q8N8X2	Frame_Shift_Ins	INS	ENST00000396328.1	37	c.2332_2333insA	CCDS10151.1																																																																																				0.391	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		7	1112						7	1112	---	---	---	---
RFX7	64864	broad.mit.edu	37	15	56386880	56386881	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:56386880_56386881insG	ENST00000559447.2	-	9	3025_3026	c.2754_2755insC	c.(2752-2757)cccagcfs	p.S919fs	RFX7_ENST00000317318.6_Frame_Shift_Ins_p.S1016fs|RFX7_ENST00000423270.1_Frame_Shift_Ins_p.S1016fs|RFX7_ENST00000422057.1_Frame_Shift_Ins_p.S919fs			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	919					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TCAACAGGGCTGGGGGGGACAC	0.5																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3043-3048)ccgcccfs		regulatory factor X, 7																																				SO:0001589	frameshift_variant	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56386880_56386881insG			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2755dupC	15.37:g.56386887_56386887dupG	ENSP00000453281:p.Ser919fs					RFX7_ENST00000317318.6_Frame_Shift_Ins_p.P1016fs|RFX7_ENST00000422057.1_Frame_Shift_Ins_p.P919fs|RFX7_ENST00000559447.2_Frame_Shift_Ins_p.P919fs	p.P1016fs	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	3044_3045	-			919					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Frame_Shift_Ins	INS	ENST00000559447.2	37	c.3045_3046insC																																																																																					0.500	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		7	181						7	181	---	---	---	---
GTF2A2	2958	broad.mit.edu	37	15	59942953	59942954	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:59942953_59942954insG	ENST00000396060.2	-	3	272_273	c.91_92insC	c.(91-93)caafs	p.Q31fs	GTF2A2_ENST00000396063.1_Frame_Shift_Ins_p.Q31fs|GTF2A2_ENST00000396064.3_Frame_Shift_Ins_p.Q31fs|AC092755.4_ENST00000441746.1_RNA|GTF2A2_ENST00000396061.1_Frame_Shift_Ins_p.Q31fs|GTF2A2_ENST00000267869.4_Intron|GTF2A2_ENST00000484743.1_Intron	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	31					gene expression (GO:0010467)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|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)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(2)|kidney(2)|lung(1)	5						AAGGGCAAGTTGGGGGGTGATC	0.376																																						ENST00000396060.2																			0				central_nervous_system(2)|kidney(2)|lung(1)	5						c.(91-93)actfs		general transcription factor IIA, 2, 12kDa																																				SO:0001589	frameshift_variant	2958				interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex	protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity	g.chr15:59942953_59942954insG	BC001919	CCDS10173.1	15q21.3	2010-03-23	2002-08-29		ENSG00000140307	ENSG00000140307		"""General transcription factors"""	4647	protein-coding gene	gene with protein product		600519	"""general transcription factor IIA, 2 (12kD subunit)"""			7958899	Standard	NM_004492		Approved	TFIIA, HsT18745	uc002agg.3	P52657	OTTHUMG00000132725	ENST00000396060.2:c.92dupC	15.37:g.59942959_59942959dupG	ENSP00000379372:p.Gln31fs					GTF2A2_ENST00000267869.4_Intron|GTF2A2_ENST00000396061.1_Frame_Shift_Ins_p.T31fs|GTF2A2_ENST00000396063.1_Frame_Shift_Ins_p.T31fs|GTF2A2_ENST00000396064.3_Frame_Shift_Ins_p.T31fs|GTF2A2_ENST00000484743.1_Intron|AC092755.4_ENST00000441746.1_RNA	p.T31fs	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN			3	272_273	-			31					A8MYQ7|Q6FGB5	Frame_Shift_Ins	INS	ENST00000396060.2	37	c.91_92insC	CCDS10173.1																																																																																				0.376	GTF2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256067.2	NM_004492		7	231						7	231	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:63918305_63918306insG	ENST00000443617.2	-	71	13240_13241	c.13153_13154insC	c.(13153-13155)cagfs	p.Q4385fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4385					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(13153-13155)gtafs		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1																																				SO:0001589	frameshift_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63918305_63918306insG	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13154dupC	15.37:g.63918312_63918312dupG	ENSP00000390158:p.Gln4385fs						p.V4385fs	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			71	13240_13241	-			4385					Q8IW65	Frame_Shift_Ins	INS	ENST00000443617.2	37	c.13153_13154insC	CCDS45277.1																																																																																				0.559	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		9	102						9	102	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64967993	64967994	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:64967993_64967994insC	ENST00000326648.3	+	4	3068_3069	c.2940_2941insC	c.(2941-2943)cccfs	p.P981fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	981						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						ATGCCTATGTACCCCCCTATGG	0.55																																						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.(2938-2943)gtccccfs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64967993_64967994insC	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.2946dupC	15.37:g.64967999_64967999dupC	ENSP00000316527:p.Pro981fs						p.VP980fs	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	3068_3069	+			980					Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.2940_2941insC	CCDS32270.1																																																																																				0.550	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		11	1272						11	1272	---	---	---	---
LARP6	55323	broad.mit.edu	37	15	71125256	71125257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:71125256_71125257insG	ENST00000299213.8	-	3	680_681	c.610_611insC	c.(610-612)cagfs	p.Q204fs	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	204	RRM.				regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TCCATTCTTCTGGGGGGTGGCC	0.545																																						ENST00000299213.8																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						c.(610-612)gaafs		La ribonucleoprotein domain family, member 6																																				SO:0001589	frameshift_variant	55323				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr15:71125256_71125257insG	BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.611dupC	15.37:g.71125262_71125262dupG	ENSP00000299213:p.Gln204fs						p.E204fs	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN			3	680_681	-			204					Q5XKE4|Q8N3N2|Q9NUR0	Frame_Shift_Ins	INS	ENST00000299213.8	37	c.610_611insC	CCDS32281.1																																																																																				0.545	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		8	209						8	209	---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85405928	85405929	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:85405928_85405929insG	ENST00000258888.5	+	10	4965_4966	c.4798_4799insG	c.(4798-4800)tggfs	p.W1600fs		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1600	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCTGGCTGCTGGGGGGACAAG	0.584																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(4798-4800)gggfs		alpha-kinase 3																																				SO:0001589	frameshift_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85405928_85405929insG	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4804dupG	15.37:g.85405934_85405934dupG	ENSP00000258888:p.Trp1600fs						p.G1600fs	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		10	4965_4966	+			1600			Alpha-type protein kinase.		Q9P2L6	Frame_Shift_Ins	INS	ENST00000258888.5	37	c.4798_4799insG	CCDS10333.1																																																																																				0.584	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		7	181						7	181	---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)cggfs	p.R138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.R138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function). {ECO:0000269|PubMed:14657428}.		axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GAACATTACTCGGGGGGCCATC	0.51																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	GRCh37	CM035076	IGF1R	M	rs121912426	c.(412-414)gggfs		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)																																			SO:0001589	frameshift_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99251108_99251109insG	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.418dupG	15.37:g.99251114_99251114dupG	ENSP00000268035:p.Arg138fs					IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	p.G138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	1023_1024	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		138		R -> Q (in IGF1RES; has decreased IGF1R function).			B1B5Y2|Q14CV2|Q9UCC0	Frame_Shift_Ins	INS	ENST00000268035.6	37	c.412_413insG	CCDS10378.1																																																																																				0.510	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		10	418						10	418	---	---	---	---
ZNF174	7727	broad.mit.edu	37	16	3452110	3452111	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:3452110_3452111insA	ENST00000268655.4	+	1	691_692	c.106_107insA	c.(106-108)caafs	p.Q36fs	ZSCAN32_ENST00000396852.4_5'Flank|ZSCAN32_ENST00000573830.1_5'Flank|ZNF174_ENST00000575752.1_Frame_Shift_Ins_p.Q36fs|ZSCAN32_ENST00000304926.3_5'Flank|ZNF174_ENST00000572544.1_Frame_Shift_Ins_p.Q36fs|ZSCAN32_ENST00000422427.2_5'Flank|ZNF174_ENST00000571936.1_Frame_Shift_Ins_p.Q36fs|ZSCAN32_ENST00000439568.2_5'Flank|ZNF174_ENST00000344823.5_Frame_Shift_Ins_p.Q36fs	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	36					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CCCTCCTCTGCAAAAAAACTGC	0.5																																						ENST00000268655.4																			0				endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						c.(106-108)aaafs		zinc finger protein 174																																				SO:0001589	frameshift_variant	7727				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:3452110_3452111insA	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.113dupA	16.37:g.3452117_3452117dupA	ENSP00000268655:p.Gln36fs					ZNF174_ENST00000344823.5_Frame_Shift_Ins_p.K36fs|ZNF174_ENST00000572544.1_Frame_Shift_Ins_p.K36fs|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000575752.1_Frame_Shift_Ins_p.K36fs|ZNF174_ENST00000571936.1_Frame_Shift_Ins_p.K36fs	p.K36fs	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN			1	691_692	+			36					Q53Y68|Q9BQ34	Frame_Shift_Ins	INS	ENST00000268655.4	37	c.106_107insA	CCDS10504.1																																																																																				0.500	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450		7	374						7	374	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3634840	3634841	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:3634840_3634841insG	ENST00000294008.3	-	13	5308_5309	c.4668_4669insC	c.(4666-4671)cccaaafs	p.K1557fs	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1557	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATGGGCACTTTGGGGGGCAAGT	0.5								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(4666-4671)ccaagtfs	Direct reversal of damage	SLX4 structure-specific endonuclease subunit				0,4264		0,0,2132						5.5	1.0			163	1,8247		0,1,4123	no	frameshift	SLX4	NM_032444.2		0,1,6255	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12511				SO:0001589	frameshift_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3634840_3634841insG	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4669dupC	16.37:g.3634846_3634846dupG	ENSP00000294008:p.Lys1557fs						p.S1557fs	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			13	5308_5309	-			1557			Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Frame_Shift_Ins	INS	ENST00000294008.3	37	c.4668_4669insC	CCDS10506.2																																																																																				0.500	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		12	468						12	468	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C	rs374997353		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1207-1209)cccfs	p.P403fs	ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.P324fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.P175fs	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	403					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1204-1209)ctccccfs		acyl-CoA synthetase medium-chain family member 2A																																				SO:0001589	frameshift_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20489924_20489925insC	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1212dupC	16.37:g.20489930_20489930dupC	ENSP00000459451:p.Pro403fs					ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs	p.LP402fs	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			10	1320_1321	+			402					B3KTT9|O75202	Frame_Shift_Ins	INS	ENST00000573854.1	37	c.1206_1207insC	CCDS32401.1																																																																																				0.505	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		7	343						7	343	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20966297	20966298	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		7	458						7	458	---	---	---	---
RRN3P1	730092	broad.mit.edu	37	16	21814059	21814060	+	RNA	INS	-	-	G	rs571509663		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:21814059_21814060insG	ENST00000546471.1	-	0	1607							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CCTATAACAAAGGGGGGGGAAA	0.381																																						ENST00000546471.1																			0																																																			730092							g.chr16:21814059_21814060insG			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21814067_21814067dupG														0	1607	-								A8K6T4|B3KWX9|O75704	RNA	INS	ENST00000546471.1	37																																																																																						0.381	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		10	151						10	151	---	---	---	---
ERN2	10595	broad.mit.edu	37	16	23718095	23718096	+	Frame_Shift_Ins	INS	-	-	G	rs143761786|rs201055598		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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	433						8	433	---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28846490	28846491	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:28846490_28846491insC	ENST00000336783.4	+	19	2712_2713	c.2545_2546insC	c.(2545-2547)accfs	p.T849fs	ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.T849fs|ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.T849fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.T849fs|ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.T855fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.T849fs|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.T849fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	849					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGAGCAGCCTACCCCCCAAGCC	0.624																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2545-2547)cccfs		ataxin 2-like																																				SO:0001589	frameshift_variant	11273					membrane		g.chr16:28846490_28846491insC		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2551dupC	16.37:g.28846496_28846496dupC	ENSP00000338718:p.Thr849fs					RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.P855fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.P849fs	p.P849fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			19	2712_2713	+			849					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Frame_Shift_Ins	INS	ENST00000336783.4	37	c.2545_2546insC	CCDS10641.1																																																																																				0.624	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		11	453						11	453	---	---	---	---
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:30100077_30100078insC	ENST00000395224.2	-	5	763_764	c.704_705insG	c.(703-705)ggcfs	p.G235fs	TBX6_ENST00000553607.1_Frame_Shift_Ins_p.G235fs|TBX6_ENST00000279386.2_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_ENST00000279386.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000395224.2_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		19	214						19	214	---	---	---	---
CD2BP2	10421	broad.mit.edu	37	16	30365544	30365545	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:30365544_30365545insC	ENST00000305596.3	-	3	352_353	c.177_178insG	c.(175-180)gggtccfs	p.S60fs	RP11-347C12.10_ENST00000563252.1_lincRNA|CD2BP2_ENST00000569466.1_Frame_Shift_Ins_p.S60fs	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	60					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TATTTGCTGGACCCCCCATCAT	0.535																																						ENST00000305596.3																			0				breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(175-180)ggccagfs		CD2 (cytoplasmic tail) binding protein 2																																				SO:0001589	frameshift_variant	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365544_30365545insC	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.178dupG	16.37:g.30365550_30365550dupC	ENSP00000304903:p.Ser60fs					CD2BP2_ENST00000569466.1_Frame_Shift_Ins_p.Q60fs	p.Q60fs	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN			3	352_353	-			60					B2RDX2|Q9ULP2	Frame_Shift_Ins	INS	ENST00000305596.3	37	c.177_178insG	CCDS10675.1																																																																																				0.535	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		7	1097						7	1097	---	---	---	---
PRSS36	146547	broad.mit.edu	37	16	31150581	31150582	+	Frame_Shift_Ins	INS	-	-	G	rs368480655		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:31150581_31150582insG	ENST00000268281.4	-	15	2503_2504	c.2445_2446insC	c.(2443-2448)cccagtfs	p.S816fs	PRSS36_ENST00000418068.2_Frame_Shift_Ins_p.S713fs|PRSS36_ENST00000569305.1_Frame_Shift_Ins_p.S811fs	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	816						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GGGGAGCCACTGGGGGGCAGGA	0.634																																						ENST00000268281.4																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(2443-2448)ccgtggfs		protease, serine, 36																																				SO:0001589	frameshift_variant	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31150581_31150582insG	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2446dupC	16.37:g.31150587_31150587dupG	ENSP00000268281:p.Ser816fs					PRSS36_ENST00000569305.1_Frame_Shift_Ins_p.W811fs|PRSS36_ENST00000418068.2_Frame_Shift_Ins_p.W713fs	p.W816fs	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN			15	2503_2504	-			816					A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Frame_Shift_Ins	INS	ENST00000268281.4	37	c.2445_2446insC	CCDS32436.1																																																																																				0.634	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		7	138						7	138	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31422475	31422476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:31422475_31422476insC	ENST00000389202.2	+	13	1484_1485	c.1435_1436insC	c.(1435-1437)gccfs	p.A479fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	479					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCTCATTGGGGCCCCCCATTAC	0.649																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1435-1437)cccfs		integrin, alpha D																																				SO:0001589	frameshift_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422475_31422476insC	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1441dupC	16.37:g.31422481_31422481dupC	ENSP00000373854:p.Ala479fs						p.P479fs	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			13	1484_1485	+			479					Q15575|Q15576	Frame_Shift_Ins	INS	ENST00000389202.2	37	c.1435_1436insC	CCDS32438.1																																																																																				0.649	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		9	821						9	821	---	---	---	---
C16orf87	388272	broad.mit.edu	37	16	46843530	46843531	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:46843530_46843531insT	ENST00000285697.4	-	3	591_592	c.330_331insA	c.(328-333)aaacatfs	p.H111fs	C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Intron	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	111										large_intestine(4)|urinary_tract(1)	5						TCTTCCTCATGTTTTTTGGCAG	0.351																																						ENST00000285697.4																			0				large_intestine(4)|urinary_tract(1)	5						c.(328-333)aaatgafs		chromosome 16 open reading frame 87																																				SO:0001589	frameshift_variant	388272							g.chr16:46843530_46843531insT		CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.331dupA	16.37:g.46843536_46843536dupT	ENSP00000285697:p.His111fs					C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Intron	p.*111fs	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN			3	591_592	-			111					Q63HN9	Frame_Shift_Ins	INS	ENST00000285697.4	37	c.330_331insA	CCDS10724.1																																																																																				0.351	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	NM_001001436		8	1127						8	1127	---	---	---	---
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C	rs539297455	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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	310						12	310	---	---	---	---
DPEP2	64174	broad.mit.edu	37	16	68021467	68021468	+	Frame_Shift_Ins	INS	-	-	G	rs1133090	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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_ENST00000572888.1_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000393847.1_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		8	445						8	445	---	---	---	---
NFAT5	10725	broad.mit.edu	37	16	69727259	69727260	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:69727259_69727260insT	ENST00000354436.2	+	12	3795_3796	c.3477_3478insT	c.(3478-3480)tttfs	p.F1160fs	NFAT5_ENST00000393742.2_Frame_Shift_Ins_p.F1084fs|NFAT5_ENST00000432919.1_Frame_Shift_Ins_p.F1178fs|NFAT5_ENST00000349945.1_Frame_Shift_Ins_p.F1084fs|NFAT5_ENST00000566899.1_Frame_Shift_Ins_p.F1084fs|NFAT5_ENST00000567239.1_Frame_Shift_Ins_p.F1177fs	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1160					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CCCAAGAAGCATTTTTTGCAGC	0.436																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3247-3252)gcttttfs		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001589	frameshift_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727259_69727260insT	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.3483dupT	16.37:g.69727265_69727265dupT	ENSP00000346420:p.Phe1160fs					NFAT5_ENST00000566899.1_Frame_Shift_Ins_p.AF1083fs|NFAT5_ENST00000567239.1_Frame_Shift_Ins_p.AF1176fs|NFAT5_ENST00000393742.2_Frame_Shift_Ins_p.AF1083fs|NFAT5_ENST00000432919.1_Frame_Shift_Ins_p.AF1177fs|NFAT5_ENST00000354436.2_Frame_Shift_Ins_p.AF1159fs	p.AF1083fs	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	4801_4802	+			1159					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Frame_Shift_Ins	INS	ENST00000354436.2	37	c.3249_3250insT	CCDS10881.1																																																																																				0.436	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		7	661						7	661	---	---	---	---
KLHDC4	54758	broad.mit.edu	37	16	87795566	87795567	+	Frame_Shift_Ins	INS	-	-	G	rs546816885		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:87795566_87795567insG	ENST00000270583.5	-	2	237_238	c.179_180insC	c.(178-180)ccafs	p.P60fs	KLHDC4_ENST00000353170.5_Intron|KLHDC4_ENST00000347925.5_Frame_Shift_Ins_p.P60fs	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	60										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TTGGTGAGGGTGGGGGGCACGG	0.465																																						ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(178-180)cccfs		kelch domain containing 4																																				SO:0001589	frameshift_variant	54758							g.chr16:87795566_87795567insG	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.180dupC	16.37:g.87795572_87795572dupG	ENSP00000270583:p.Pro60fs					KLHDC4_ENST00000353170.5_Intron|KLHDC4_ENST00000347925.5_Frame_Shift_Ins_p.P60fs	p.P60fs	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	2	237_238	-			60					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Frame_Shift_Ins	INS	ENST00000270583.5	37	c.179_180insC	CCDS10963.1																																																																																				0.465	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		7	496						7	496	---	---	---	---
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201|rs113994200		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1045-1047)gggfs	p.G349fs	PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.G144fs|RN7SL608P_ENST00000492377.2_RNA|PAFAH1B1_ENST00000572915.2_Intron	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		10	618						10	618	---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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					RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_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			8	833						8	833	---	---	---	---
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C	rs532773147	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr17:7612855_7612856insC	ENST00000226091.2	+	5	1381_1382	c.984_985insC	c.(985-987)cccfs	p.P329fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	329					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAGGATGGGCCCCCCCAGAG	0.574																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(982-987)ggccccfs		ephrin-B3																																				SO:0001589	frameshift_variant	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612855_7612856insC	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.991dupC	17.37:g.7612862_7612862dupC	ENSP00000226091:p.Pro329fs						p.GP328fs	NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN			5	1381_1382	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	328					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Frame_Shift_Ins	INS	ENST00000226091.2	37	c.984_985insC	CCDS11120.1																																																																																				0.574	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		7	160						7	160	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7798764	7798765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr17:7798764_7798765insC	ENST00000330494.7	+	10	1761_1762	c.1611_1612insC	c.(1612-1614)cccfs	p.P538fs	CHD3_ENST00000358181.4_Frame_Shift_Ins_p.P538fs|CHD3_ENST00000380358.4_Frame_Shift_Ins_p.P597fs	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		26	367						26	367	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs562474149|rs35554312	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cccatgfs	p.M625fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.M652fs	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		10	230						10	230	---	---	---	---
PCGF2	7703	broad.mit.edu	37	17	36896586	36896587	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr17:36896586_36896587insC	ENST00000580830.1	-	4	770_771	c.69_70insG	c.(67-72)gggtacfs	p.Y24fs	PCGF2_ENST00000585100.1_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000579882.1_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000581345.1_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000360797.2_Frame_Shift_Ins_p.Y24fs			P35227	PCGF2_HUMAN	polycomb group ring finger 2	24					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TCGATGAAGTACCCCCCGCAGA	0.629																																						ENST00000580830.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(67-72)ggacttfs		polycomb group ring finger 2																																				SO:0001589	frameshift_variant	7703				negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:36896586_36896587insC	D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.70dupG	17.37:g.36896592_36896592dupC	ENSP00000461961:p.Tyr24fs					PCGF2_ENST00000360797.2_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000581345.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000585100.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000579882.1_Frame_Shift_Ins_p.L24fs	p.L24fs			P35227	PCGF2_HUMAN			4	770_771	-	Breast(7;9.07e-22)		24					A6NGD8	Frame_Shift_Ins	INS	ENST00000580830.1	37	c.69_70insG	CCDS32638.1																																																																																				0.629	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		12	295						12	295	---	---	---	---
CD300LG	146894	broad.mit.edu	37	17	41931337	41931338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr17:41931337_41931338insC	ENST00000317310.4	+	4	685_686	c.644_645insC	c.(643-648)cgccccfs	p.RP215fs	CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.RP215fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.RP181fs|CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.RP130fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.RP130fs	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	215					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGAGCTCCCGCCCCCCCATGC	0.629																																						ENST00000317310.4																			0				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19						c.(643-645)cccfs		CD300 molecule-like family member g																																				SO:0001589	frameshift_variant	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41931337_41931338insC	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.651dupC	17.37:g.41931344_41931344dupC	ENSP00000321005:p.Arg215fs					CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.P181fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.P215fs	p.P215fs	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	4	685_686	+		Breast(137;0.0199)	215					B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Frame_Shift_Ins	INS	ENST00000317310.4	37	c.644_645insC	CCDS11470.1																																																																																				0.629	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		10	99						10	99	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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_ENST00000442502.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000451037.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.G16fs	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development (GO:0007420)			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TTACCTTCCTGCCCCCCGTGTT	0.49																																						ENST00000451037.2																			1	Substitution - Missense(1)	p.G91V(1)	lung(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(271-273)gagfs		carbonic anhydrase X																																				SO:0001589	frameshift_variant	56934				brain development			g.chr17:50008356_50008357insC	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.273dupG	17.37:g.50008362_50008362dupC	ENSP00000285273:p.Gly91fs					CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000442502.2_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		12	557						12	557	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		10	686						10	686	---	---	---	---
CTAGE1	64693	broad.mit.edu	37	18	19995705	19995706	+	5'Flank	INS	-	-	G	rs193288240		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr18:19995705_19995706insG	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Frame_Shift_Ins_p.P690fs			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CTGGAGGAGGTGGGGGGAAAGG	0.5																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(2068-2070)cccfs		cutaneous T-cell lymphoma-associated antigen 1																																				SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19995705_19995706insG	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19995711_19995711dupG	Exception_encountered						p.P690fs	NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN			1	2172_2173	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		690			Pro-rich.		B0YIZ3	Frame_Shift_Ins	INS	ENST00000525417.1	37	c.2069_2070insC																																																																																					0.500	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		12	491						12	491	---	---	---	---
ZBTB7C	201501	broad.mit.edu	37	18	45566518	45566519	+	Frame_Shift_Ins	INS	-	-	C	rs113275715		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr18:45566518_45566519insC	ENST00000588982.1	-	3	1461_1462	c.960_961insG	c.(958-963)gggcctfs	p.P321fs	ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.P321fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.P321fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.P321fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.P321fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	321	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGTCCCAGAGGCCCCCCCGGCA	0.624																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(958-963)ggctctfs		zinc finger and BTB domain containing 7C																																				SO:0001589	frameshift_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45566518_45566519insC	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.961dupG	18.37:g.45566525_45566525dupC	ENSP00000468782:p.Pro321fs					ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.S321fs	p.S321fs			A1YPR0	ZBT7C_HUMAN			3	1461_1462	-			321			Pro-rich.		O73453	Frame_Shift_Ins	INS	ENST00000588982.1	37	c.960_961insG	CCDS32830.1																																																																																				0.624	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		9	171						9	171	---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56586491	56586492	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr18:56586491_56586492insA	ENST00000336078.4	+	4	1748_1749	c.972_973insA	c.(973-975)aaafs	p.K325fs	ZNF532_ENST00000591083.1_Frame_Shift_Ins_p.K325fs|ZNF532_ENST00000591808.1_Frame_Shift_Ins_p.K325fs|ZNF532_ENST00000589288.1_Frame_Shift_Ins_p.K325fs|ZNF532_ENST00000591230.1_Frame_Shift_Ins_p.K325fs	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TCGACGGGACCAAAAAACCATC	0.53																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(970-975)acaaaafs		zinc finger protein 532																																				SO:0001589	frameshift_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56586491_56586492insA	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.978dupA	18.37:g.56586497_56586497dupA	ENSP00000338217:p.Lys325fs					ZNF532_ENST00000591808.1_Frame_Shift_Ins_p.TK324fs|ZNF532_ENST00000591083.1_Frame_Shift_Ins_p.TK324fs|ZNF532_ENST00000591230.1_Frame_Shift_Ins_p.TK324fs|ZNF532_ENST00000589288.1_Frame_Shift_Ins_p.TK324fs	p.TK324fs	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	1748_1749	+			324					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Frame_Shift_Ins	INS	ENST00000336078.4	37	c.972_973insA	CCDS11969.1																																																																																				0.530	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		7	585						7	585	---	---	---	---
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)cccaagfs	p.K891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AACGAGGACTTGGGGGGGATGG	0.574																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2668-2673)ccagtcfs		complement component 3																																				SO:0001589	frameshift_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6697480_6697481insG	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2671dupC	19.37:g.6697487_6697487dupG	ENSP00000245907:p.Lys891fs						p.V891fs	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	21	2762_2763	-			891					A7E236	Frame_Shift_Ins	INS	ENST00000245907.6	37	c.2670_2671insC	CCDS32883.1																																																																																				0.574	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		13	522						13	522	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6919686	6919687	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:6919686_6919687insG	ENST00000312053.4	+	13	1585_1586	c.1548_1549insG	c.(1549-1551)gggfs	p.G517fs	EMR1_ENST00000450315.3_Frame_Shift_Ins_p.G340fs|EMR1_ENST00000250572.8_Frame_Shift_Ins_p.G517fs|EMR1_ENST00000381404.4_Frame_Shift_Ins_p.G465fs|EMR1_ENST00000381407.5_Frame_Shift_Ins_p.G376fs	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	517	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTCGAGTCGTTGGGGGCATAAT	0.465																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(1546-1551)gtggggfs		egf-like module containing, mucin-like, hormone receptor-like 1																																				SO:0001589	frameshift_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6919686_6919687insG	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1553dupG	19.37:g.6919691_6919691dupG	ENSP00000311545:p.Gly517fs					EMR1_ENST00000450315.3_Frame_Shift_Ins_p.VG339fs|EMR1_ENST00000381407.5_Frame_Shift_Ins_p.VG375fs|EMR1_ENST00000381404.4_Frame_Shift_Ins_p.VG464fs|EMR1_ENST00000250572.8_Frame_Shift_Ins_p.VG516fs	p.VG516fs	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			13	1585_1586	+	all_hematologic(4;0.166)		516			Ser/Thr-rich.		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Frame_Shift_Ins	INS	ENST00000312053.4	37	c.1548_1549insG	CCDS12175.1																																																																																				0.465	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			9	1333						9	1333	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G	rs558504850	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		21	502						21	502	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G	rs369470867		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)cccaaafs	p.K130fs	DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.K130fs|DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.K130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(385-390)ccaaccfs		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)																																			SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10291083_10291084insG	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.388dupC	19.37:g.10291090_10291090dupG	ENSP00000345739:p.Lys130fs					DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs	p.T130fs			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		4	622_623	-			130			Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Ins	INS	ENST00000340748.4	37	c.387_388insC	CCDS12228.1																																																																																				0.495	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		13	267						13	267	---	---	---	---
TMED1	11018	broad.mit.edu	37	19	10946787	10946788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:10946787_10946788insG	ENST00000214869.2	-	1	178_179	c.80_81insC	c.(79-81)ccgfs	p.P27fs	TMED1_ENST00000591695.1_Frame_Shift_Ins_p.P27fs|TMED1_ENST00000588289.1_5'Flank|C19orf38_ENST00000592854.1_5'Flank	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	27					cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						CCTGGATTGGCGGGGGCCCCGC	0.673																																						ENST00000214869.2																			0				breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						c.(79-81)cccfs		transmembrane emp24 protein transport domain containing 1																																				SO:0001589	frameshift_variant	11018				cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding	g.chr19:10946787_10946788insG	U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"""transmembrane emp24 domain containing 1"""			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.81dupC	19.37:g.10946792_10946792dupG	ENSP00000214869:p.Pro27fs					TMED1_ENST00000591695.1_Frame_Shift_Ins_p.P27fs	p.P27fs	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN			1	178_179	-			27						Frame_Shift_Ins	INS	ENST00000214869.2	37	c.80_81insC	CCDS12249.1																																																																																				0.673	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452614.1	NM_006858		2	4						2	4	---	---	---	---
ZNF878	729747	broad.mit.edu	37	19	12155708	12155709	+	Frame_Shift_Ins	INS	-	-	T	rs375738139		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:12155708_12155709insT	ENST00000547628.1	-	4	644_645	c.507_508insA	c.(505-510)aaacccfs	p.P170fs	CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Frame_Shift_Ins_p.P217fs|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	170					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	0.411																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(646-651)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.chr19:12155708_12155709insT		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.508dupA	19.37:g.12155715_12155715dupT	ENSP00000447931:p.Pro170fs					ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL169fs|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	p.NL216fs			C9JN71	ZN878_HUMAN			5	647_648	-			169						Frame_Shift_Ins	INS	ENST00000547628.1	37	c.648_649insA	CCDS45984.2																																																																																				0.411	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		22	759						22	759	---	---	---	---
ZNF625	90589	broad.mit.edu	37	19	12256750	12256751	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:12256750_12256751insC	ENST00000355738.1	-	4	631_632	c.282_283insG	c.(280-285)gggaaafs	p.K95fs	ZNF625-ZNF20_ENST00000430024.1_Intron|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000439556.2_Frame_Shift_Ins_p.K161fs|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Frame_Shift_Ins_p.K95fs			Q96I27	ZN625_HUMAN	zinc finger protein 625	95					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)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TCATAAGGTTTCCCCCCAGTGT	0.421																																						ENST00000355738.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						c.(280-285)ggaaccfs		zinc finger protein 625																																				SO:0001589	frameshift_variant	90589				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12256750_12256751insC	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.283dupG	19.37:g.12256756_12256756dupC	ENSP00000347977:p.Lys95fs					ZNF625_ENST00000542938.1_Frame_Shift_Ins_p.T95fs|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Frame_Shift_Ins_p.T161fs|ZNF625_ENST00000455799.1_3'UTR	p.T95fs			Q96I27	ZN625_HUMAN			4	631_632	-			95					A4FU45|I3L0E9	Frame_Shift_Ins	INS	ENST00000355738.1	37	c.282_283insG																																																																																					0.421	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		7	516						7	516	---	---	---	---
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:12430217delA	ENST00000293725.5	-	4	827	c.622delT	c.(622-624)tggfs	p.W208fs	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(622-624)ggfs		zinc finger protein 563							124.0	126.0	126.0					19																	12430217		2203	4300	6503	SO:0001589	frameshift_variant	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430217delA	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.622delT	19.37:g.12430217delA	ENSP00000293725:p.Trp208fs					ZNF563_ENST00000595977.1_Intron	p.W208fs	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	827	-			208					B2R9E7|Q8NAT7	Frame_Shift_Del	DEL	ENST00000293725.5	37	c.622delT	CCDS12270.1																																																																																				0.393	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		7	354						7	354	---	---	---	---
TNPO2	30000	broad.mit.edu	37	19	12812575	12812576	+	Frame_Shift_Ins	INS	-	-	C	rs200937372		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:12812575_12812576insC	ENST00000592287.1	-	22	2609_2610	c.2501_2502insG	c.(2500-2502)ggcfs	p.G834fs	TNPO2_ENST00000441499.1_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000356861.5_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000425528.1_Frame_Shift_Ins_p.G834fs|TNPO2_ENST00000450764.2_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000588216.1_Frame_Shift_Ins_p.G824fs	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	834					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTGCACAACGCCCCCCGGGTT	0.639																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2500-2502)ggtfs		transportin 2																																				SO:0001589	frameshift_variant	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12812575_12812576insC	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2502dupG	19.37:g.12812581_12812581dupC	ENSP00000468434:p.Gly834fs					TNPO2_ENST00000588216.1_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000450764.2_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000441499.1_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000356861.5_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000592287.1_Frame_Shift_Ins_p.G834fs	p.G834fs			O14787	TNPO2_HUMAN			23	2858_2859	-			834					O14655|Q6IN77	Frame_Shift_Ins	INS	ENST00000592287.1	37	c.2501_2502insG	CCDS45991.1																																																																																				0.639	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		8	95						8	95	---	---	---	---
EMR3	84658	broad.mit.edu	37	19	14774330	14774331	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:14774330_14774331insG	ENST00000253673.5	-	3	198_199	c.98_99insC	c.(97-99)ccafs	p.P33fs	EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Frame_Shift_Ins_p.P33fs|EMR3_ENST00000443157.2_Frame_Shift_Ins_p.P33fs	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	33	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGGAAGCATTTGGGGGGCACTT	0.485																																						ENST00000253673.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(97-99)caafs		egf-like module containing, mucin-like, hormone receptor-like 3																																				SO:0001589	frameshift_variant	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14774330_14774331insG	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.99dupC	19.37:g.14774336_14774336dupG	ENSP00000253673:p.Pro33fs					EMR3_ENST00000443157.2_Frame_Shift_Ins_p.Q33fs|EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Frame_Shift_Ins_p.Q33fs	p.Q33fs	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN			3	198_199	-			33			EGF-like 1.			Frame_Shift_Ins	INS	ENST00000253673.5	37	c.98_99insC	CCDS12315.1																																																																																				0.485	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		7	268						7	268	---	---	---	---
AP1M1	8907	broad.mit.edu	37	19	16314383	16314384	+	Frame_Shift_Ins	INS	-	-	G	rs146546344	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:16314383_16314384insG	ENST00000291439.3	+	2	605_606	c.156_157insG	c.(157-159)gggfs	p.G53fs	AP1M1_ENST00000429941.2_Frame_Shift_Ins_p.G53fs|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000444449.2_Frame_Shift_Ins_p.G53fs|AP1M1_ENST00000590756.1_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	53					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|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)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TCCTGGCCCACGGGGGGGTCCG	0.594																																						ENST00000291439.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						c.(154-159)caggggfs		adaptor-related protein complex 1, mu 1 subunit																																				SO:0001589	frameshift_variant	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:16314383_16314384insG		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.163dupG	19.37:g.16314390_16314390dupG	ENSP00000291439:p.Gly53fs					AP1M1_ENST00000444449.2_Frame_Shift_Ins_p.QG52fs|AP1M1_ENST00000429941.2_Frame_Shift_Ins_p.QG52fs|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000590756.1_Intron	p.QG52fs	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN			2	605_606	+			52					Q4TTY5	Frame_Shift_Ins	INS	ENST00000291439.3	37	c.156_157insG	CCDS12342.1																																																																																				0.594	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		7	180						7	180	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16860826	16860827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:16860826_16860827insC	ENST00000552788.1	+	4	1373_1374	c.1373_1374insC	c.(1372-1377)tgccccfs	p.CP458fs	NWD1_ENST00000549814.1_Frame_Shift_Ins_p.CP458fs|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.CP323fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.CP458fs|NWD1_ENST00000524140.2_Frame_Shift_Ins_p.CP458fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.CP252fs			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	458	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTCTCAACTGCCCCCCGAGGG	0.629																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1372-1374)tccfs		NACHT and WD repeat domain containing 1																																				SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16860826_16860827insC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1379dupC	19.37:g.16860832_16860832dupC	ENSP00000447224:p.Cys458fs					NWD1_ENST00000552788.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.S252fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.S323fs	p.S458fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1791_1792	+			458			NACHT.		C9J021|Q68CT3	Frame_Shift_Ins	INS	ENST00000552788.1	37	c.1373_1374insC																																																																																					0.629	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		7	228						7	228	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		35	328						35	328	---	---	---	---
CD22	933	broad.mit.edu	37	19	35832248	35832249	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:35832248_35832249insC	ENST00000085219.5	+	8	1576_1577	c.1510_1511insC	c.(1510-1512)gccfs	p.A504fs	CD22_ENST00000270311.6_Frame_Shift_Ins_p.A384fs|CD22_ENST00000341773.6_Frame_Shift_Ins_p.A327fs|CD22_ENST00000419549.2_Frame_Shift_Ins_p.A332fs|CD22_ENST00000594250.1_Frame_Shift_Ins_p.A327fs|CD22_ENST00000536635.2_Frame_Shift_Ins_p.A416fs|CD22_ENST00000544992.2_Frame_Shift_Ins_p.A504fs	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	504					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCTCCAGATGCCCCCCGAGAC	0.619																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(1510-1512)cccfs		CD22 molecule	OspA lipoprotein(DB00045)																																			SO:0001589	frameshift_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35832248_35832249insC	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1516dupC	19.37:g.35832254_35832254dupC	ENSP00000085219:p.Ala504fs					CD22_ENST00000536635.2_Frame_Shift_Ins_p.P416fs|CD22_ENST00000594250.1_Frame_Shift_Ins_p.P327fs|CD22_ENST00000544992.2_Frame_Shift_Ins_p.P504fs|CD22_ENST00000341773.6_Frame_Shift_Ins_p.P327fs|CD22_ENST00000419549.2_Frame_Shift_Ins_p.P332fs|CD22_ENST00000270311.6_Frame_Shift_Ins_p.P384fs	p.P504fs	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1576_1577	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		504					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Frame_Shift_Ins	INS	ENST00000085219.5	37	c.1510_1511insC	CCDS12457.1																																																																																				0.619	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		7	187						7	187	---	---	---	---
FBL	2091	broad.mit.edu	37	19	40325192	40325193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:40325192_40325193insG	ENST00000221801.3	-	9	1064_1065	c.951_952insC	c.(949-954)cccaagfs	p.K318fs	DYRK1B_ENST00000601972.1_5'Flank|DYRK1B_ENST00000323039.5_5'Flank|FBL_ENST00000593503.1_5'UTR|DYRK1B_ENST00000348817.3_5'Flank|DYRK1B_ENST00000430012.2_5'Flank|DYRK1B_ENST00000597639.1_5'Flank|DYRK1B_ENST00000593685.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	318					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TTCTTCACCTTGGGGGGTGGCC	0.505																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(949-954)ccaggtfs		fibrillarin																																				SO:0001589	frameshift_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40325192_40325193insG	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.952dupC	19.37:g.40325198_40325198dupG	ENSP00000221801:p.Lys318fs					FBL_ENST00000593503.1_5'UTR	p.G318fs	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	9	1064_1065	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	318					B5BUE8|O75259|Q6IAT5|Q9UPI6	Frame_Shift_Ins	INS	ENST00000221801.3	37	c.951_952insC	CCDS12545.1																																																																																				0.505	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		13	430						13	430	---	---	---	---
PSMC4	5704	broad.mit.edu	37	19	40480653	40480654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:40480653_40480654insC	ENST00000157812.2	+	6	789_790	c.591_592insC	c.(592-594)cccfs	p.P198fs	PSMC4_ENST00000455878.2_Frame_Shift_Ins_p.P167fs	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	198					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)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|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 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)|proteolysis (GO:0006508)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCGGCATCGATCCCCCCCGAGG	0.614																																					Colon(105;1478 1543 4034 6132 38638)	ENST00000157812.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(589-594)gaccccfs		proteasome (prosome, macropain) 26S subunit, ATPase, 4																																				SO:0001589	frameshift_variant	5704				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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr19:40480653_40480654insC	U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.598dupC	19.37:g.40480660_40480660dupC	ENSP00000157812:p.Pro198fs					PSMC4_ENST00000455878.2_Frame_Shift_Ins_p.DP166fs	p.DP197fs	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN			6	789_790	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		197					Q96FV5|Q9UBM3|Q9UEX3	Frame_Shift_Ins	INS	ENST00000157812.2	37	c.591_592insC	CCDS12547.1																																																																																				0.614	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		7	138						7	138	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)tccfs	p.S599fs	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.S598fs|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.S599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1795-1797)cccfs		carcinoembryonic antigen-related cell adhesion molecule 5																																				SO:0001589	frameshift_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224865_42224866insC	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1802dupC	19.37:g.42224872_42224872dupC	ENSP00000221992:p.Ser599fs					CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs	p.P599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	8	1909_1910	+			599			Ig-like 7.		H9KVA7	Frame_Shift_Ins	INS	ENST00000221992.6	37	c.1795_1796insC	CCDS12584.1																																																																																				0.545	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		18	438						18	438	---	---	---	---
POU2F2	5452	broad.mit.edu	37	19	42621520	42621521	+	Splice_Site	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:42621520_42621521insG	ENST00000526816.2	-	5	202		c.e5-2		POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000560398.1_Frame_Shift_Ins_p.Q84fs			P09086	PO2F2_HUMAN	POU class 2 homeobox 2						cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	AGCCTTGATCTGGGGGGGAGAG	0.634																																						ENST00000560398.1																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(250-252)gatfs		POU class 2 homeobox 2																																				SO:0001630	splice_region_variant	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42621520_42621521insG		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.187-2->C	19.37:g.42621527_42621527dupG						POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000524801.2_Splice_Site	p.D84fs			P09086	PO2F2_HUMAN			5	257_258	-		Prostate(69;0.059)	62					Q16648|Q7M4M8|Q9BRS4	Frame_Shift_Ins	INS	ENST00000526816.2	37	c.250_251insC	CCDS56095.1																																																																																				0.634	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3		Intron	21	419						21	419	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42866542	42866543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:42866542_42866543insC	ENST00000251268.6	+	34	5851_5852	c.5851_5852insC	c.(5851-5853)accfs	p.T1951fs	MEGF8_ENST00000334370.4_Frame_Shift_Ins_p.T1884fs	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1951	PSI 5.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCAGGCGTCCACCCCCCGCTGT	0.614																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5650-5652)cccfs		multiple EGF-like-domains 8																																				SO:0001589	frameshift_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42866542_42866543insC	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5857dupC	19.37:g.42866548_42866548dupC	ENSP00000251268:p.Thr1951fs					MEGF8_ENST00000251268.6_Frame_Shift_Ins_p.P1951fs	p.P1884fs	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			33	6285_6286	+		Prostate(69;0.00682)	1951			PSI 4.		A8KAY0|O75097	Frame_Shift_Ins	INS	ENST00000251268.6	37	c.5650_5651insC																																																																																					0.614	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		7	292						7	292	---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		7	543						7	543	---	---	---	---
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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_ENST00000519940.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.D64fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.D114fs			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_ENST00000357778.5_5'UTR|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520015.1_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		16	313						16	313	---	---	---	---
LMTK3	114783	broad.mit.edu	37	19	48994757	48994758	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:48994757_48994758insG	ENST00000600059.1	-	13	4358_4359	c.4131_4132insC	c.(4129-4134)cccgagfs	p.E1378fs	LMTK3_ENST00000270238.3_Frame_Shift_Ins_p.E1407fs			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1378	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GTGTCCCCCTCGGGGGGGGCCT	0.658																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(4129-4134)ccagggfs		lemur tyrosine kinase 3																																				SO:0001589	frameshift_variant	114783							g.chr19:48994757_48994758insG	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.4132dupC	19.37:g.48994765_48994765dupG	ENSP00000472020:p.Glu1378fs					LMTK3_ENST00000270238.3_Frame_Shift_Ins_p.G1407fs	p.G1378fs						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	13	4358_4359	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Frame_Shift_Ins	INS	ENST00000600059.1	37	c.4131_4132insC																																																																																					0.658	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		7	21						7	21	---	---	---	---
FAM83E	54854	broad.mit.edu	37	19	49107037	49107038	+	Frame_Shift_Ins	INS	-	-	G	rs560890077	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:49107037_49107038insG	ENST00000263266.3	-	4	1078_1079	c.889_890insC	c.(889-891)cagfs	p.Q297fs	SPACA4_ENST00000321762.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	297										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGAGGGTTTCTGGGGGGGCGCA	0.723																																						ENST00000263266.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.(889-891)gaafs		family with sequence similarity 83, member E																																				SO:0001589	frameshift_variant	54854							g.chr19:49107037_49107038insG	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.890dupC	19.37:g.49107044_49107044dupG	ENSP00000263266:p.Gln297fs						p.E297fs	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	1078_1079	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	297					Q9NXK1	Frame_Shift_Ins	INS	ENST00000263266.3	37	c.889_890insC	CCDS42587.1																																																																																				0.723	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		8	55						8	55	---	---	---	---
PLEKHA4	57664	broad.mit.edu	37	19	49364680	49364681	+	Frame_Shift_Ins	INS	-	-	G	rs369327643		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:49364680_49364681insG	ENST00000263265.6	-	5	898_899	c.343_344insC	c.(343-345)cgafs	p.R115fs	PLEKHA4_ENST00000355496.5_Frame_Shift_Ins_p.R115fs|PLEKHA4_ENST00000596713.1_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	115	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)	p.R115R(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GCGCCGCCCTCGGGGGGCTCCC	0.604																																						ENST00000263265.6																			1	Substitution - coding silent(1)	p.R115R(1)	lung(1)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(343-345)aggfs		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4																																				SO:0001589	frameshift_variant	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49364680_49364681insG	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.344dupC	19.37:g.49364686_49364686dupG	ENSP00000263265:p.Arg115fs					PLEKHA4_ENST00000355496.5_Frame_Shift_Ins_p.R115fs	p.R115fs	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	5	898_899	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	115			PH.		Q8N4M8|Q8N658	Frame_Shift_Ins	INS	ENST00000263265.6	37	c.343_344insC	CCDS12737.1																																																																																				0.604	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			8	363						8	363	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		29	513						29	513	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243087	50243088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:50243087_50243088insC	ENST00000246801.3	-	11	1806_1807	c.1724_1725insG	c.(1723-1725)ggafs	p.G575fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	575					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CACTGCTGCCTCCCCCCATTGT	0.554																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1723-1725)gggfs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243087_50243088insC	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1725dupG	19.37:g.50243093_50243093dupC	ENSP00000246801:p.Gly575fs					TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs	p.G575fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1806_1807	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	575					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1724_1725insG	CCDS12780.1																																																																																				0.554	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		7	596						7	596	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51192459	51192460	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:51192459_51192460insC	ENST00000293441.1	-	15	2059_2060	c.2041_2042insG	c.(2041-2043)gccfs	p.A681fs	SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.A681fs|SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.A672fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.A68fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	681	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.A681S(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTCACCCTTGGCCCCCCGGAGC	0.609																																						ENST00000293441.1																			1	Substitution - Missense(1)	p.A681S(1)	lung(1)	breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(2041-2043)caafs		SH3 and multiple ankyrin repeat domains 1																																				SO:0001589	frameshift_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51192459_51192460insC	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2042dupG	19.37:g.51192465_51192465dupC	ENSP00000293441:p.Ala681fs					SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.Q672fs|SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.Q681fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.Q68fs	p.Q681fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	15	2059_2060	-		all_neural(266;0.057)	681			PDZ.		A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Ins	INS	ENST00000293441.1	37	c.2041_2042insG	CCDS12799.1																																																																																				0.609	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		10	408						10	408	---	---	---	---
GPR32	2854	broad.mit.edu	37	19	51274914	51274915	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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			7	253						7	253	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		22	368						22	368	---	---	---	---
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		11	717						11	717	---	---	---	---
ZNF649	65251	broad.mit.edu	37	19	52394013	52394014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:52394013_52394014insC	ENST00000354957.3	-	5	1659_1660	c.1375_1376insG	c.(1375-1377)gatfs	p.D459fs	ZNF577_ENST00000420592.1_5'Flank|ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.D431fs|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000451628.2_5'Flank|ZNF577_ENST00000301399.5_5'Flank|ZNF577_ENST00000412216.1_5'Flank|ZNF577_ENST00000485702.1_5'Flank	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTCACTGAATCCCCCCGTTTC	0.45																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(1375-1377)ttcfs		zinc finger protein 649																																				SO:0001589	frameshift_variant	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394013_52394014insC	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1376dupG	19.37:g.52394019_52394019dupC	ENSP00000347043:p.Asp459fs					ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.F431fs|CTC-429C10.2_ENST00000600329.1_RNA	p.F459fs	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1659_1660	-		all_neural(266;0.0602)	459					A8MYJ5|B2RDC4|Q9H9N2	Frame_Shift_Ins	INS	ENST00000354957.3	37	c.1375_1376insG	CCDS12843.1																																																																																				0.450	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		7	1065						7	1065	---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54649666	54649667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:54649666_54649667insC	ENST00000406403.1	+	8	2327_2328	c.724_725insC	c.(724-726)tccfs	p.S242fs	CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.S242fs|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.S61fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	242					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGTCGCCACCTCCCCTCCCAGC	0.644																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(724-726)cccfs		CCR4-NOT transcription complex, subunit 3																																				SO:0001589	frameshift_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54649666_54649667insC	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.728dupC	19.37:g.54649670_54649670dupC	ENSP00000383954:p.Ser242fs					CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.P61fs|CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.P242fs	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		12	169						12	169	---	---	---	---
FASTKD5	60493	broad.mit.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)gggcccfs	p.P573fs	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	573					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGCA	0.436																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(1714-1719)ggcccafs		FAST kinase domains 5			,,	6,4256		0,6,2125					,,	3.8	1.0			69	7,8247		0,7,4120	no	intron,frameshift,intron	UBOX5,FASTKD5	NM_199415.1,NM_021826.4,NM_014948.2	,,	0,13,6245	A1A1,A1R,RR		0.0848,0.1408,0.1039	,,	,,		13,12503				SO:0001589	frameshift_variant	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128000_3128001insC	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1717dupG	20.37:g.3128007_3128007dupC	ENSP00000369618:p.Pro573fs					UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	p.GP572fs	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	2037_2038	-			572					Q96JN3|Q9H5D1|Q9H8Y3	Frame_Shift_Ins	INS	ENST00000380266.3	37	c.1716_1717insG	CCDS13048.1																																																																																				0.436	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		11	192						11	192	---	---	---	---
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		24	405						24	405	---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C	rs199845790		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		10	140						10	140	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)accfs	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|RALGAPB_ENST00000537204.1_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_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_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		11	227						11	227	---	---	---	---
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G	rs559154076	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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			14	375						14	375	---	---	---	---
RBPJL	11317	broad.mit.edu	37	20	43940237	43940238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr20:43940237_43940238insC	ENST00000343694.3	+	4	338_339	c.266_267insC	c.(265-270)tgccccfs	p.CP89fs	RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.CP89fs|RBPJL_ENST00000372741.3_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		8	216						8	216	---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)cccgccfs	p.A465fs	SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.A415fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.A50fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.A418fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.A418fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.A383fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	465					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604																																						ENST00000279027.4																			1	Substitution - coding silent(1)	p.P464P(1)	lung(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1390-1395)ccccctfs		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)																																			SO:0001589	frameshift_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45194969_45194970insG	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1393dupC	20.37:g.45194975_45194975dupG	ENSP00000279027:p.Ala465fs					SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs	p.PP464fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			11	1410_1411	-		Myeloproliferative disorder(115;0.0122)	464					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Frame_Shift_Ins	INS	ENST00000279027.4	37	c.1392_1393insC	CCDS13400.1																																																																																				0.604	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			7	475						7	475	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		18	496						18	496	---	---	---	---
TSPEAR	54084	broad.mit.edu	37	21	45987772	45987773	+	Frame_Shift_Ins	INS	-	-	G	rs587631627		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr21:45987772_45987773insG	ENST00000323084.4	-	2	264_265	c.199_200insC	c.(199-201)cgcfs	p.R67fs	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	67	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCTCATGGTGCGGGGGGCGGCT	0.564																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(199-201)cacfs		thrombospondin-type laminin G domain and EAR repeats																																				SO:0001589	frameshift_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45987772_45987773insG	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.200dupC	21.37:g.45987778_45987778dupG	ENSP00000321987:p.Arg67fs					TSPEAR_ENST00000397916.1_5'UTR	p.H67fs	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			2	264_265	-			67						Frame_Shift_Ins	INS	ENST00000323084.4	37	c.199_200insC	CCDS13712.1																																																																																				0.564	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		8	182						8	182	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47663396	47663397	+	Frame_Shift_Ins	INS	-	-	G	rs34589822	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr21:47663396_47663397insG	ENST00000397708.1	-	25	5532_5533	c.5278_5279insC	c.(5278-5280)cggfs	p.R1760fs	MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.R1760fs|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1760	Acetyltransferase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AACAGGAAGCCGGGGGGGCGTC	0.525																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5278-5280)gctfs		minichromosome maintenance complex component 3 associated protein																																				SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47663396_47663397insG	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5279dupC	21.37:g.47663403_47663403dupG	ENSP00000380820:p.Arg1760fs					MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.A1760fs	p.A1760fs			O60318	MCM3A_HUMAN			25	5532_5533	-	Breast(49;0.112)		1760					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Ins	INS	ENST00000397708.1	37	c.5278_5279insC	CCDS13734.1																																																																																				0.525	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		15	331						15	331	---	---	---	---
CECR1	51816	broad.mit.edu	37	22	17662759	17662760	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr22:17662759_17662760insC	ENST00000399839.1	-	9	1662_1663	c.1392_1393insG	c.(1390-1395)gggatgfs	p.M465fs	CECR1_ENST00000399837.2_Frame_Shift_Ins_p.M465fs|CECR1_ENST00000330232.4_Frame_Shift_Ins_p.M224fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.M465fs|CECR1_ENST00000449907.2_Frame_Shift_Ins_p.M423fs	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	465					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TCAGCCTTCATCCCCCCAATGC	0.564																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(1390-1395)ggtgaafs		cat eye syndrome chromosome region, candidate 1																																				SO:0001589	frameshift_variant	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17662759_17662760insC	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1393dupG	22.37:g.17662765_17662765dupC	ENSP00000382733:p.Met465fs					CECR1_ENST00000399837.2_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000449907.2_Frame_Shift_Ins_p.E423fs|CECR1_ENST00000330232.4_Frame_Shift_Ins_p.E224fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.E465fs	p.E465fs			Q9NZK5	CECR1_HUMAN			9	1662_1663	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	465					A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Frame_Shift_Ins	INS	ENST00000399839.1	37	c.1392_1393insG	CCDS13742.1																																																																																				0.564	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			7	423						7	423	---	---	---	---
P2RX6P	440799	broad.mit.edu	37	22	21399220	21399221	+	5'Flank	INS	-	-	C	rs529641856|rs548950945	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr22:21399220_21399221insC	ENST00000342608.4	+	0	0				P2RX6P_ENST00000439119.1_RNA|AC002472.13_ENST00000543388.1_5'Flank|AC002472.11_ENST00000450652.1_RNA																lung(2)	2						TCTGCAGGGCGCCCCCCCACCA	0.599																																						ENST00000439119.1																			0																																																	SO:0001631	upstream_gene_variant	440799							g.chr22:21399220_21399221insC																													22.37:g.21399227_21399227dupC	Exception_encountered							NR_002829.1						0	51	-									RNA	INS	ENST00000342608.4	37																																																																																						0.599	AC002472.13-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				17	369						17	369	---	---	---	---
ZNF280A	129025	broad.mit.edu	37	22	22869526	22869527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr22:22869526_22869527insG	ENST00000302097.3	-	2	680_681	c.428_429insC	c.(427-429)ccafs	p.P143fs	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACTGAGTCCCTGGGGGGAGCGA	0.455																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(427-429)cggfs		zinc finger protein 280A																																				SO:0001589	frameshift_variant	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869526_22869527insG	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.429dupC	22.37:g.22869532_22869532dupG	ENSP00000302855:p.Pro143fs						p.R143fs	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	680_681	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	143						Frame_Shift_Ins	INS	ENST00000302097.3	37	c.428_429insC	CCDS13800.1																																																																																				0.455	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		9	368						9	368	---	---	---	---
GNAZ	2781	broad.mit.edu	37	22	23438487	23438488	+	Frame_Shift_Ins	INS	-	-	G	rs201266285	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		8	84						8	84	---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26688484	26688485	+	Frame_Shift_Ins	INS	-	-	C	rs145637105	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr22:26688484_26688485insC	ENST00000248933.6	+	2	302_303	c.207_208insC	c.(208-210)cccfs	p.P70fs	SEZ6L_ENST00000360929.3_Frame_Shift_Ins_p.P70fs|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Frame_Shift_Ins_p.P70fs|SEZ6L_ENST00000404234.3_Frame_Shift_Ins_p.P70fs|SEZ6L_ENST00000529632.2_Frame_Shift_Ins_p.P70fs|SEZ6L_ENST00000402979.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	70					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGGTAACAGCGCCCCCCAGTTC	0.634																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(205-210)gcccccfs		seizure related 6 homolog (mouse)-like																																				SO:0001589	frameshift_variant	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26688484_26688485insC	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.213dupC	22.37:g.26688490_26688490dupC	ENSP00000248933:p.Pro70fs					SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Frame_Shift_Ins_p.AP69fs|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Frame_Shift_Ins_p.AP69fs|SEZ6L_ENST00000404234.3_Frame_Shift_Ins_p.AP69fs|SEZ6L_ENST00000248933.6_Frame_Shift_Ins_p.AP69fs	p.AP69fs	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			2	403_404	+			69					A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Frame_Shift_Ins	INS	ENST00000248933.6	37	c.207_208insC	CCDS13833.1																																																																																				0.634	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			7	191						7	191	---	---	---	---
GTPBP1	9567	broad.mit.edu	37	22	39122087	39122088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr22:39122087_39122088insC	ENST00000216044.5	+	7	1383_1384	c.1150_1151insC	c.(1150-1152)tccfs	p.S384fs	GTPBP1_ENST00000460605.1_3'UTR	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	384	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CAACCTCCTCTCCCCCCGCACC	0.569																																						ENST00000216044.5																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18						c.(1150-1152)cccfs		GTP binding protein 1																																				SO:0001589	frameshift_variant	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39122087_39122088insC	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.1156dupC	22.37:g.39122093_39122093dupC	ENSP00000216044:p.Ser384fs					GTPBP1_ENST00000460605.1_3'UTR	p.P384fs	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN			7	1383_1384	+	Melanoma(58;0.04)		384					Q6IC67	Frame_Shift_Ins	INS	ENST00000216044.5	37	c.1150_1151insC	CCDS13977.2																																																																																				0.569	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		10	408						10	408	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr22:40681766_40681767insC	ENST00000454349.2	+	12	3911_3912	c.3700_3701insC	c.(3700-3702)tccfs	p.S1234fs	TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.S430fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.S430fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000335727.9_Frame_Shift_Ins_p.S1124fs	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_ENST00000301923.9_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000402203.1_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				11	775						11	775	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6964-6966)cccfs	p.P2322fs	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2322					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACAGTCCCAGCCCCCCCACTC	0.609			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(6961-6966)caccccfs		E1A binding protein p300																																				SO:0001589	frameshift_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41574678_41574679insC	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6970dupC	22.37:g.41574685_41574685dupC	ENSP00000263253:p.Pro2322fs					RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.HP2321fs	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	8182_8183	+			2321					B1AKC2	Frame_Shift_Ins	INS	ENST00000263253.7	37	c.6963_6964insC	CCDS14010.1																																																																																				0.609	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		14	220						14	220	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42271636	42271637	+	Frame_Shift_Ins	INS	-	-	C	rs79727196		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		15	260						15	260	---	---	---	---
CYP2D6	1565	broad.mit.edu	37	22	42524213	42524214	+	Frame_Shift_Ins	INS	-	-	G	rs367543000|rs565013903	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr22:42524213_42524214insG	ENST00000360608.5	-	5	919_920	c.805_806insC	c.(805-807)cgafs	p.R269fs	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|CYP2D6_ENST00000389970.3_Frame_Shift_Ins_p.R269fs|CYP2D6_ENST00000359033.4_Frame_Shift_Ins_p.R218fs	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	269					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	AGTCAGGTCTCGGGGGGGCTGG	0.629																																						ENST00000360608.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	GRCh37	CI994342	CYP2D6	I	rs72549352	c.(805-807)agafs		cytochrome P450, family 2, subfamily D, polypeptide 6																																				SO:0001589	frameshift_variant	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42524213_42524214insG	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.806dupC	22.37:g.42524220_42524220dupG	ENSP00000353820:p.Arg269fs					NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Frame_Shift_Ins_p.R218fs|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Frame_Shift_Ins_p.R269fs	p.R269fs	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN			5	919_920	-			269					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Frame_Shift_Ins	INS	ENST00000360608.5	37	c.805_806insC	CCDS46721.1																																																																																				0.629	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			7	78						7	78	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)cagfs	p.Q122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.Q122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(364-366)gggfs		transcription factor 20 (AR1)																																				SO:0001589	frameshift_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610947_42610948insG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.365dupC	22.37:g.42610954_42610954dupG	ENSP00000352463:p.Gln122fs					TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	500_501	-			122	Q -> R (in Ref. 1).				A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Ins	INS	ENST00000359486.3	37	c.364_365insC	CCDS14033.1																																																																																				0.564	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		30	889						30	889	---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-93)caccccfs	p.HP30fs	TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.HP30fs	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_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron	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		14	281						14	281	---	---	---	---
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	RNA	INS	-	-	G	rs41305745		TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		7	567						7	567	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	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		10	466						10	466	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73043501	73043502	+	lincRNA	INS	-	-	T			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chrX:73043501_73043502insT	ENST00000604411.1	+	0	31462_31463				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		ACAACACCTTGTTTTTTGCAAA	0.391																																						ENST00000604411.1																			0																																																			9383							g.chrX:73043501_73043502insT			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73043507_73043507dupT						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	31462_31463	+									RNA	INS	ENST00000604411.1	37																																																																																						0.391	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		7	433						7	433	---	---	---	---
ZNF449	203523	broad.mit.edu	37	X	134494267	134494268	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chrX:134494267_134494268insC	ENST00000339249.4	+	5	963_964	c.823_824insC	c.(823-825)accfs	p.T275fs		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	275					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)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATGGGAAACCCCCCCAGAG	0.436																																						ENST00000339249.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23						c.(823-825)cccfs		zinc finger protein 449																																				SO:0001589	frameshift_variant	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494267_134494268insC	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.830dupC	X.37:g.134494274_134494274dupC	ENSP00000339585:p.Thr275fs						p.P275fs	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN			5	963_964	+	Acute lymphoblastic leukemia(192;6.56e-05)		275					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Frame_Shift_Ins	INS	ENST00000339249.4	37	c.823_824insC	CCDS14649.1																																																																																				0.436	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		7	161						7	161	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138697051	138697052	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3465-01A-01W-0886-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b8a067-6ffb-4d17-8f3b-efaeecd1cf57	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chrX:138697051_138697052insA	ENST00000370576.4	-	10	1560_1561	c.1351_1352insT	c.(1351-1353)tcafs	p.S451fs	MCF2_ENST00000520602.1_Frame_Shift_Ins_p.S511fs|MCF2_ENST00000414978.1_Frame_Shift_Ins_p.S511fs|MCF2_ENST00000519895.1_Frame_Shift_Ins_p.S511fs|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000370573.4_Frame_Shift_Ins_p.S451fs|MCF2_ENST00000370578.4_Frame_Shift_Ins_p.S596fs|MCF2_ENST00000536274.1_Frame_Shift_Ins_p.S412fs|MCF2_ENST00000338585.6_Frame_Shift_Ins_p.S451fs	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	451					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTGTTTAGATGAAAAAAATGGT	0.371																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(1531-1533)atcfs		MCF.2 cell line derived transforming sequence																																				SO:0001589	frameshift_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138697051_138697052insA		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1352dupT	X.37:g.138697058_138697058dupA	ENSP00000359608:p.Ser451fs					MCF2_ENST00000370573.4_Frame_Shift_Ins_p.I451fs|MCF2_ENST00000338585.6_Frame_Shift_Ins_p.I451fs|MCF2_ENST00000370576.4_Frame_Shift_Ins_p.I451fs|MCF2_ENST00000370578.4_Frame_Shift_Ins_p.I596fs|MCF2_ENST00000519895.1_Frame_Shift_Ins_p.I511fs|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000536274.1_Frame_Shift_Ins_p.I412fs|MCF2_ENST00000414978.1_Frame_Shift_Ins_p.I511fs	p.I511fs			P10911	MCF2_HUMAN			13	1816_1817	-	Acute lymphoblastic leukemia(192;0.000127)		451			DH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Frame_Shift_Ins	INS	ENST00000370576.4	37	c.1531_1532insT	CCDS14667.1																																																																																				0.371	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		7	524						7	524	---	---	---	---
RP11-231C18.1	0	broad.mit.edu	37	4	55201143	55201144	+	lincRNA	INS	-	-	TTT			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:55201143_55201144insTTT	ENST00000511634.1	+	0	43																											ctccttccctcccttccttcct	0.49																																						ENST00000511634.1																			0																																																			0							g.chr4:55201143_55201144insTTT																													4.37:g.55201143_55201144insTTT														0	43	+									RNA	INS	ENST00000511634.1	37																																																																																						0.490	RP11-231C18.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000361538.1			3	5						3	5	---	---	---	---
FNIP1	96459	broad.mit.edu	37	5	131013435	131013435	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:131013435delC	ENST00000510461.1	-	13	1575	c.1480delG	c.(1480-1482)gcafs	p.A494fs	FNIP1_ENST00000307954.8_Frame_Shift_Del_p.A449fs|FNIP1_ENST00000307968.7_Frame_Shift_Del_p.A466fs|FNIP1_ENST00000511848.1_Frame_Shift_Del_p.A494fs|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	494					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TGAGTCTTTGCCAACATGTCC	0.383																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1396-1398)cafs		folliculin interacting protein 1							129.0	126.0	127.0					5																	131013435		2203	4300	6503	SO:0001589	frameshift_variant	96459							g.chr5:131013435delC	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1480delG	5.37:g.131013435delC	ENSP00000421985:p.Ala494fs					FNIP1_ENST00000510461.1_Frame_Shift_Del_p.A494fs|FNIP1_ENST00000511848.1_Frame_Shift_Del_p.A494fs|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Frame_Shift_Del_p.A449fs	p.A466fs	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	12	1395	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Frame_Shift_Del	DEL	ENST00000510461.1	37	c.1396delG	CCDS34227.1																																																																																				0.383	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		105	190						105	190	---	---	---	---
LRRC14	9684	broad.mit.edu	37	8	145746499	145746502	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr8:145746499_145746502delTGAG	ENST00000292524.1	+	4	1265_1268	c.1119_1122delTGAG	c.(1117-1122)actgagfs	p.TE373fs	LRRC14_ENST00000529022.1_Frame_Shift_Del_p.TE373fs	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	373										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGGAGCTGACTGAGTGTCAGCTCG	0.593																																						ENST00000292524.1																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(1117-1122)acfs		leucine rich repeat containing 14																																				SO:0001589	frameshift_variant	9684							g.chr8:145746499_145746502delTGAG	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.1119_1122delTGAG	8.37:g.145746499_145746502delTGAG	ENSP00000292524:p.Thr373fs					LRRC14_ENST00000529022.1_Frame_Shift_Del_p.TE373fs	p.TE373fs	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	1265_1268	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		373					A8K0A8|D3DWM8	Frame_Shift_Del	DEL	ENST00000292524.1	37	c.1119_1122delTGAG	CCDS6432.1																																																																																				0.593	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		51	105						51	105	---	---	---	---
CCDC176	80127	broad.mit.edu	37	14	74514756	74514760	+	Frame_Shift_Del	DEL	TACTT	TACTT	-	rs185884398	byFrequency	TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:74514756_74514760delTACTT	ENST00000394009.3	+	7	894_898	c.771_775delTACTT	c.(769-777)catactttafs	p.TL258fs	CCDC176_ENST00000489323.1_3'UTR|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_5'UTR	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	258					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)											AAGAGAGTCATACTTTACTTTTACA	0.341																																						ENST00000394009.3																			0											c.(769-777)catafs		coiled-coil domain containing 176																																				SO:0001589	frameshift_variant	80127							g.chr14:74514756_74514760delTACTT	BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.771_775delTACTT	14.37:g.74514761_74514765delTACTT	ENSP00000377577:p.Thr258fs					CCDC176_ENST00000553773.1_5'UTR|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000489323.1_3'UTR	p.HTL257fs	NM_025057.2	NP_079333.2					7	894_898	+								Q0P604|Q9H5P8	Frame_Shift_Del	DEL	ENST00000394009.3	37	c.771_775delTACTT	CCDS32119.2																																																																																				0.341	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1	NM_025057		37	70						37	70	---	---	---	---
RP11-519G16.3	0	broad.mit.edu	37	15	45756158	45756158	+	RNA	DEL	T	T	-	rs143709087|rs138385126		TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:45756158delT	ENST00000560077.1	+	0	41				RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000559869.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA																							accaccaccatcaccatcacc	0.567																																						ENST00000560077.1																			0																																																			0							g.chr15:45756158delT																													15.37:g.45756158delT						RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA								0	41	+									RNA	DEL	ENST00000560077.1	37																																																																																						0.567	RP11-519G16.3-005	KNOWN	basic	antisense	antisense	OTTHUMT00000416549.1			2	4						2	4	---	---	---	---
