#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
CCDC150	284992	broad.mit.edu	37	2	197594013	197594013	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:197594013C>T	ENST00000389175.4	+	23	2788	c.2653C>T	c.(2653-2655)Cta>Tta	p.L885L	CCDC150_ENST00000272831.7_Silent_p.L532L|CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000409270.1_Silent_p.L372L	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	885										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGAAAAAATACTAGAAAGTAA	0.408																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2653-2655)Cta>Tta		coiled-coil domain containing 150							77.0	74.0	75.0					2																	197594013		1828	4087	5915	SO:0001819	synonymous_variant	284992							g.chr2:197594013C>T		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.2653C>T	2.37:g.197594013C>T						CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000272831.7_Silent_p.L532L|CCDC150_ENST00000409270.1_Silent_p.L372L	p.L885L	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			23	2788	+			885					Q6P5U6|Q6P663|Q8N8V5	Silent	SNP	ENST00000389175.4	37	c.2653C>T	CCDS46478.1																																																																																				0.408	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		5	56	0	0	0	1	0	5	56				
MKI67	4288	broad.mit.edu	37	10	129907130	129907130	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:129907130C>T	ENST00000368654.3	-	13	3349	c.2974G>A	c.(2974-2976)Gcc>Acc	p.A992T	MKI67_ENST00000368653.3_Missense_Mutation_p.A632T|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	992					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)				GGTGCCTTGGCATGATCTTGG	0.468																																						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.(2974-2976)Gcc>Acc		marker of proliferation Ki-67							368.0	357.0	361.0					10																	129907130		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129907130C>T	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.2974G>A	10.37:g.129907130C>T	ENSP00000357643:p.Ala992Thr					MKI67_ENST00000368653.3_Missense_Mutation_p.A632T	p.A992T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3349	-		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)	992					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.2974G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	0.949	-0.707076	0.03230	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02498	4.31;4.27	3.48	-6.97	0.01616	.	1.237350	0.06014	N	0.650095	T	0.01222	0.0040	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.18610	0.002;0.009;0.029	B;B;B	0.23275	0.007;0.028;0.045	T	0.49303	-0.8954	10	0.10377	T	0.69	.	6.7759	0.23619	0.0:0.5474:0.1389:0.3137	.	991;632;992	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	T	992;632;991	ENSP00000357643:A992T;ENSP00000357642:A632T	ENSP00000357642:A632T	A	-	1	0	MKI67	129797120	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.137000	0.00588	-1.629000	0.01546	-0.459000	0.05422	GCC		0.468	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		18	1462	0	0	0	1	0	18	1462				
VPS8	23355	broad.mit.edu	37	3	184642661	184642661	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:184642661G>T	ENST00000437079.3	+	30	2637	c.2466G>T	c.(2464-2466)gaG>gaT	p.E822D	VPS8_ENST00000436792.2_Missense_Mutation_p.E820D|VPS8_ENST00000287546.4_Missense_Mutation_p.E822D|VPS8_ENST00000463687.1_3'UTR|VPS8_ENST00000446204.2_Missense_Mutation_p.E730D	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	822							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TTATGGTGGAGAATTCAGACT	0.398																																						ENST00000287546.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(2464-2466)gaG>gaT		vacuolar protein sorting 8 homolog (S. cerevisiae)							131.0	119.0	123.0					3																	184642661		1896	4117	6013	SO:0001583	missense	23355						zinc ion binding	g.chr3:184642661G>T	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.2466G>T	3.37:g.184642661G>T	ENSP00000397879:p.Glu822Asp					VPS8_ENST00000463687.1_3'UTR|VPS8_ENST00000446204.2_Missense_Mutation_p.E730D|VPS8_ENST00000437079.3_Missense_Mutation_p.E822D|VPS8_ENST00000436792.2_Missense_Mutation_p.E820D	p.E822D	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		29	2637	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		822					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.2466G>T	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179388	0.38511	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.18502	2.21;2.21;2.21;2.22	6.06	5.02	0.67125	Quinonprotein alcohol dehydrogenase-like (1);	0.047019	0.85682	D	0.000000	T	0.11623	0.0283	N	0.20685	0.6	0.46849	D	0.999226	B;B;B	0.23249	0.012;0.082;0.004	B;B;B	0.30943	0.007;0.122;0.013	T	0.13072	-1.0523	10	0.10636	T	0.68	-17.6014	12.3727	0.55263	0.1434:0.0:0.8566:0.0	.	822;730;820	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	D	822;822;820;730	ENSP00000287546:E822D;ENSP00000397879:E822D;ENSP00000404704:E820D;ENSP00000405483:E730D	ENSP00000287546:E822D	E	+	3	2	VPS8	186125355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.644000	0.46613	2.880000	0.98712	0.650000	0.86243	GAG		0.398	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		8	71	1	0	7.48243e-07	1	7.97097e-07	8	71				
HOXA1	3198	broad.mit.edu	37	7	27134354	27134354	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:27134354G>T	ENST00000343060.4	-	2	774	c.713C>A	c.(712-714)aCc>aAc	p.T238N	HOXA1_ENST00000355633.5_3'UTR|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	238					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAGCTGCTTGGTAGTGAAGTT	0.567																																						ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(712-714)aCc>aAc		homeobox A1							114.0	103.0	106.0					7																	27134354		2203	4300	6503	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27134354G>T		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.713C>A	7.37:g.27134354G>T	ENSP00000343246:p.Thr238Asn					HOXA1_ENST00000355633.5_3'UTR	p.T238N	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			2	774	-			238					A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.713C>A	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445346	0.83993	.	.	ENSG00000105991	ENST00000343060	D	0.96104	-3.91	5.31	5.31	0.75309	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.088002	0.85682	D	0.000000	D	0.95076	0.8405	N	0.10972	0.075	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96848	0.9623	10	0.87932	D	0	.	18.98	0.92752	0.0:0.0:1.0:0.0	.	238	P49639	HXA1_HUMAN	N	238	ENSP00000343246:T238N	ENSP00000343246:T238N	T	-	2	0	HOXA1	27100879	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	9.806000	0.99153	2.495000	0.84180	0.655000	0.94253	ACC		0.567	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			4	154	1	0	3.59834e-05	1	3.7813e-05	4	154				
CORO1C	23603	broad.mit.edu	37	12	109095061	109095061	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:109095061G>A	ENST00000261401.3	-	2	206	c.34C>T	c.(34-36)Cat>Tat	p.H12Y	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Missense_Mutation_p.H12Y|CORO1C_ENST00000549772.1_Missense_Mutation_p.H18Y|CORO1C_ENST00000420959.2_Missense_Mutation_p.H65Y	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	12					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						CCAAATACATGCCGAAACTTG	0.443																																						ENST00000261401.3																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						c.(34-36)Cat>Tat		coronin, actin binding protein, 1C							158.0	129.0	139.0					12																	109095061		2203	4300	6503	SO:0001583	missense	23603				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	g.chr12:109095061G>A	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.34C>T	12.37:g.109095061G>A	ENSP00000261401:p.His12Tyr					CORO1C_ENST00000420959.2_Missense_Mutation_p.H65Y|CORO1C_ENST00000549772.1_Missense_Mutation_p.H18Y|CORO1C_ENST00000541050.1_Missense_Mutation_p.H12Y|CORO1C_ENST00000549384.1_Intron	p.H12Y	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN			2	206	-			12					A7MAP0|A7MAP1|B3KU12|Q9NSK5	Missense_Mutation	SNP	ENST00000261401.3	37	c.34C>T	CCDS9120.1	.	.	.	.	.	.	.	.	.	.	G	32	5.184596	0.94885	.	.	ENSG00000110880	ENST00000261401;ENST00000541050;ENST00000549772;ENST00000420959;ENST00000547294;ENST00000550032;ENST00000551550;ENST00000546571;ENST00000551044	T;T;T;T;T;T;T;T;T	0.80214	-0.29;-0.29;-0.23;-0.38;-0.58;-0.19;-0.79;-0.96;-1.35	5.27	5.27	0.74061	Domain of unknown function DUF1899 (1);	0.000000	0.85682	D	0.000000	D	0.93367	0.7885	H	0.95884	3.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.97110	1.0;0.996;0.952	D	0.95315	0.8415	10	0.87932	D	0	-10.7525	18.9628	0.92682	0.0:0.0:1.0:0.0	.	12;65;12	B4DMH3;A7MAP1;Q9ULV4	.;.;COR1C_HUMAN	Y	12;12;18;65;12;12;12;12;12	ENSP00000261401:H12Y;ENSP00000438341:H12Y;ENSP00000447534:H18Y;ENSP00000394496:H65Y;ENSP00000449330:H12Y;ENSP00000447989:H12Y;ENSP00000448527:H12Y;ENSP00000448195:H12Y;ENSP00000447049:H12Y	ENSP00000261401:H12Y	H	-	1	0	CORO1C	107619190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.416000	0.97383	2.467000	0.83353	0.586000	0.80456	CAT		0.443	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325		8	665	0	0	0	1	0	8	665				
KATNAL2	83473	broad.mit.edu	37	18	44593483	44593483	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:44593483C>A	ENST00000245121.5	+	8	796	c.602C>A	c.(601-603)cCt>cAt	p.P201H	KATNAL2_ENST00000356157.7_Missense_Mutation_p.P273H|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2									p.P201H(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GTTGTGTATCCTATAAGGGTA	0.433																																						ENST00000245121.5																			1	Substitution - Missense(1)	p.P201H(1)	large_intestine(1)	central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						c.(601-603)cCt>cAt		katanin p60 subunit A-like 2							97.0	88.0	91.0					18																	44593483		2203	4300	6503	SO:0001583	missense	83473					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr18:44593483C>A	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.602C>A	18.37:g.44593483C>A	ENSP00000245121:p.Pro201His					KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Missense_Mutation_p.P273H	p.P201H	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN			8	796	+			273						Missense_Mutation	SNP	ENST00000245121.5	37	c.602C>A	CCDS32828.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528373	0.64860	.	.	ENSG00000167216	ENST00000356157;ENST00000245121;ENST00000454462	D;D	0.95103	-3.61;-3.61	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	H	0.97214	3.96	0.80722	D	1	.	.	.	.	.	.	D	0.98982	1.0805	8	0.87932	D	0	-1.1141	20.3539	0.98825	0.0:1.0:0.0:0.0	.	.	.	.	H	273;201;41	ENSP00000348478:P273H;ENSP00000245121:P201H	ENSP00000245121:P201H	P	+	2	0	KATNAL2	42847481	1.000000	0.71417	0.994000	0.49952	0.209000	0.24338	7.147000	0.77382	2.826000	0.97356	0.655000	0.94253	CCT		0.433	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303		10	190	1	0	2.27111e-07	1	2.4446e-07	10	190				
KCNN3	3782	broad.mit.edu	37	1	154841769	154841769	+	Silent	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:154841769C>A	ENST00000271915.4	-	1	987	c.672G>T	c.(670-672)cgG>cgT	p.R224R	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	229					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGTTGTCCTCCCGGGAGGAGA	0.642																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(670-672)cgG>cgT		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							71.0	68.0	69.0					1																	154841769		2203	4300	6503	SO:0001819	synonymous_variant	3782					integral to membrane	calmodulin binding	g.chr1:154841769C>A	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.672G>T	1.37:g.154841769C>A							p.R224R	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	987	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		229					B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	c.672G>T	CCDS30880.1																																																																																				0.642	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		31	172	1	0	2.80507e-11	1	3.11675e-11	31	172				
EPHX1	2052	broad.mit.edu	37	1	226032237	226032237	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:226032237T>C	ENST00000366837.4	+	8	1275	c.1079T>C	c.(1078-1080)cTc>cCc	p.L360P	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.L360P	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	360					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)	p.L360P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					AACGTCATGCTCTACTGGACA	0.572																																						ENST00000366837.4																			1	Substitution - Missense(1)	p.L360P(1)	kidney(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1078-1080)cTc>cCc		epoxide hydrolase 1, microsomal (xenobiotic)							127.0	104.0	112.0					1																	226032237		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226032237T>C	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1079T>C	1.37:g.226032237T>C	ENSP00000355802:p.Leu360Pro					RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.L360P	p.L360P	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			8	1275	+	Breast(184;0.197)		360					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.1079T>C	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.476345	0.84640	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.39406	1.08;1.08	5.37	5.37	0.77165	Alpha/beta hydrolase fold-1 (1);	0.319686	0.30428	N	0.009659	T	0.71660	0.3366	M	0.94101	3.495	0.80722	D	1	D	0.53151	0.958	P	0.62649	0.905	T	0.80331	-0.1427	10	0.87932	D	0	-2.8373	15.6584	0.77162	0.0:0.0:0.0:1.0	.	360	P07099	HYEP_HUMAN	P	360	ENSP00000272167:L360P;ENSP00000355802:L360P	ENSP00000272167:L360P	L	+	2	0	EPHX1	224098860	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	7.816000	0.86201	2.169000	0.68431	0.459000	0.35465	CTC		0.572	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		20	83	0	0	0	1	0	20	83				
SGOL1	151648	broad.mit.edu	37	3	20216183	20216183	+	Silent	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:20216183A>T	ENST00000263753.4	-	6	979	c.840T>A	c.(838-840)acT>acA	p.T280T	SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000421451.1_Silent_p.T280T|SGOL1_ENST00000412868.1_Silent_p.T280T|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000412997.1_Silent_p.T280T|SGOL1_ENST00000417364.1_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	280					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						gcttacttttAGTTTGTTCAG	0.308																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(838-840)acT>acA		shugoshin-like 1 (S. pombe)							62.0	62.0	62.0					3																	20216183		2201	4300	6501	SO:0001819	synonymous_variant	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20216183A>T	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.840T>A	3.37:g.20216183A>T						SGOL1_ENST00000263753.4_Silent_p.T280T|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000421451.1_Silent_p.T280T|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000412868.1_Silent_p.T280T	p.T280T	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN			6	1191	-			280					Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Silent	SNP	ENST00000263753.4	37	c.840T>A	CCDS33716.1																																																																																				0.308	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		4	15	0	0	0	1	0	4	15				
HCFC2	29915	broad.mit.edu	37	12	104490136	104490136	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:104490136A>T	ENST00000229330.4	+	12	1770		c.e12-1		HCFC2_ENST00000550335.1_Splice_Site	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TTTAATTTTTAGTTGATGAAA	0.318																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.e12-1		host cell factor C2							86.0	84.0	85.0					12																	104490136		2203	4300	6503	SO:0001630	splice_region_variant	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104490136A>T	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1667-1A>T	12.37:g.104490136A>T						HCFC2_ENST00000550335.1_Splice_Site		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			12	1770	+								B2R8Q5|C0H5X3	Splice_Site	SNP	ENST00000229330.4	37		CCDS9097.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.710132	0.68730	.	.	ENSG00000111727	ENST00000229330	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5932	0.50957	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HCFC2	103014266	0.999000	0.42202	1.000000	0.80357	0.974000	0.67602	5.151000	0.64875	2.060000	0.61445	0.482000	0.46254	.		0.318	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320	Intron	5	55	0	0	0	1	0	5	55				
RRAS2	22800	broad.mit.edu	37	11	14316410	14316410	+	Splice_Site	SNP	T	T	A	rs201547693		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:14316410T>A	ENST00000256196.4	-	3	510		c.e3-2		RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000545643.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000534746.1_Splice_Site			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2						osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		TATCCAAAACTAAAGAAAAAA	0.398																																						ENST00000545643.1																			0				breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12						c.e3-2		related RAS viral (r-ras) oncogene homolog 2							81.0	85.0	84.0					11																	14316410		2200	4294	6494	SO:0001630	splice_region_variant	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14316410T>A	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.197-2A>T	11.37:g.14316410T>A						RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site|RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000256196.4_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site		NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	3	528	-								B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Splice_Site	SNP	ENST00000256196.4	37		CCDS7814.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814905	0.70912	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000256196;ENST00000531807	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7521	0.69533	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RRAS2	14272986	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.503000	0.81632	2.031000	0.59945	0.482000	0.46254	.		0.398	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250	Intron	7	101	0	0	0	1	0	7	101				
WNT9B	7484	broad.mit.edu	37	17	44950015	44950015	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:44950015G>T	ENST00000290015.2	+	2	263	c.210G>T	c.(208-210)agG>agT	p.R70S	WNT9B_ENST00000393461.2_Missense_Mutation_p.R70S	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	70					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TCTGCCGGAGGGAGCCCGGCC	0.677																																						ENST00000393461.2																			0				large_intestine(2)|lung(8)	10						c.(208-210)agG>agT		wingless-type MMTV integration site family, member 9B							27.0	32.0	30.0					17																	44950015		2201	4300	6501	SO:0001583	missense	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44950015G>T	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.210G>T	17.37:g.44950015G>T	ENSP00000290015:p.Arg70Ser					WNT9B_ENST00000290015.2_Missense_Mutation_p.R70S	p.R70S			O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		2	263	+			70					Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	c.210G>T	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906482	0.52333	.	.	ENSG00000158955	ENST00000393461;ENST00000290015	T;T	0.75589	-0.95;-0.95	4.48	1.17	0.20885	.	0.109052	0.56097	D	0.000025	T	0.71576	0.3356	L	0.49513	1.565	0.47276	D	0.999375	D;P	0.53312	0.959;0.818	P;P	0.55508	0.777;0.481	T	0.66069	-0.6015	9	.	.	.	.	2.8569	0.05575	0.1645:0.1396:0.5448:0.1511	.	70;70	E7EPC3;O14905	.;WNT9B_HUMAN	S	70	ENSP00000377105:R70S;ENSP00000290015:R70S	.	R	+	3	2	WNT9B	42305014	1.000000	0.71417	0.956000	0.39512	0.984000	0.73092	0.791000	0.26915	0.185000	0.20105	0.455000	0.32223	AGG		0.677	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		11	94	1	0	1.08611e-07	1	1.17315e-07	11	94				
ETS1	2113	broad.mit.edu	37	11	128359269	128359269	+	Missense_Mutation	SNP	C	C	T	rs79963544	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:128359269C>T	ENST00000319397.6	-	3	628	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	ETS1_ENST00000392668.4_Missense_Mutation_p.A151T|ETS1_ENST00000526145.2_Missense_Mutation_p.A107T|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000531611.1_Missense_Mutation_p.A107T|ETS1_ENST00000345075.4_Missense_Mutation_p.A107T	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	107	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A107T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TTACCCAGGGCGCAGAGGGCT	0.493													C|||	4	0.000798722	0.0	0.0014	5008	,	,		20149	0.0		0.003	False		,,,				2504	0.0					ENST00000392668.3																			1	Substitution - Missense(1)	p.A107T(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(451-453)Gcc>Acc		v-ets avian erythroblastosis virus E26 oncogene homolog 1		C	THR/ALA,,THR/ALA	2,4400	4.2+/-10.8	0,2,2199	131.0	133.0	132.0		451,,319	5.6	1.0	11	dbSNP_131	132	37,8557	25.1+/-72.6	0,37,4260	yes	missense,intron,missense	ETS1	NM_001143820.1,NM_001162422.1,NM_005238.3	58,,58	0,39,6459	TT,TC,CC		0.4305,0.0454,0.3001	possibly-damaging,,possibly-damaging	151/486,,107/442	128359269	39,12957	2201	4297	6498	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128359269C>T		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.319G>A	11.37:g.128359269C>T	ENSP00000324578:p.Ala107Thr					ETS1_ENST00000319397.5_Missense_Mutation_p.A107T|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000345075.4_Missense_Mutation_p.A107T|ETS1_ENST00000526145.1_Missense_Mutation_p.A107T|ETS1_ENST00000531611.1_Missense_Mutation_p.A107T	p.A151T	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	5	519	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	107					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	c.451G>A	CCDS8475.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	22.9	4.346758	0.82022	4.54E-4	0.004305	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.57	5.57	0.84162	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.057078	0.64402	D	0.000002	T	0.45458	0.1343	M	0.69823	2.125	0.80722	D	1	P;D;B	0.63880	0.473;0.993;0.005	B;P;B	0.51229	0.093;0.663;0.001	T	0.27020	-1.0086	10	0.20046	T	0.44	.	19.54	0.95270	0.0:1.0:0.0:0.0	.	107;107;151	P14921;Q96AC5;Q6N087	ETS1_HUMAN;.;.	T	107;151;107;107;107	ENSP00000340485:A107T;ENSP00000376436:A151T;ENSP00000435666:A107T;ENSP00000324578:A107T;ENSP00000433500:A107T	ENSP00000324578:A107T	A	-	1	0	ETS1	127864479	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	5.900000	0.69853	2.618000	0.88619	0.655000	0.94253	GCC		0.493	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		8	719	0	0	0	1	0	8	719				
ZNF585A	199704	broad.mit.edu	37	19	37643924	37643924	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:37643924T>C	ENST00000356958.4	-	5	1135	c.877A>G	c.(877-879)Act>Gct	p.T293A	ZNF585A_ENST00000355533.2_Missense_Mutation_p.T238A|ZNF585A_ENST00000292841.5_Missense_Mutation_p.T238A|ZNF585A_ENST00000392157.2_Missense_Mutation_p.T238A|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	293					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTCTCCAGTATGAATTCTT	0.438																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(877-879)Act>Gct		zinc finger protein 585A							242.0	224.0	230.0					19																	37643924		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643924T>C	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.877A>G	19.37:g.37643924T>C	ENSP00000349440:p.Thr293Ala					ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Missense_Mutation_p.T238A|ZNF585A_ENST00000392157.2_Missense_Mutation_p.T238A|ZNF585A_ENST00000292841.5_Missense_Mutation_p.T238A	p.T293A			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1135	-			293					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.877A>G		.	.	.	.	.	.	.	.	.	.	T	6.928	0.540946	0.13250	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	3.28	2.2	0.27929	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38548	N	0.001651	T	0.21841	0.0526	L	0.53671	1.685	0.27599	N	0.94905	B	0.10296	0.003	B	0.17722	0.019	T	0.18999	-1.0319	10	0.62326	D	0.03	.	5.8572	0.18727	0.4331:0.0:0.0:0.5669	.	293	Q6P3V2	Z585A_HUMAN	A	293;238;238;238	ENSP00000349440:T293A;ENSP00000292841:T238A;ENSP00000375998:T238A;ENSP00000347724:T238A	ENSP00000292841:T238A	T	-	1	0	ZNF585A	42335764	1.000000	0.71417	0.996000	0.52242	0.106000	0.19336	2.763000	0.47605	0.413000	0.25759	0.459000	0.35465	ACT		0.438	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		9	918	0	0	0	1	0	9	918				
ZNF106	64397	broad.mit.edu	37	15	42742008	42742008	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:42742008A>T	ENST00000263805.4	-	2	2719	c.2393T>A	c.(2392-2394)gTa>gAa	p.V798E	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	798					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TTTCTTGGTTACTTGCTGAAT	0.458																																						ENST00000263805.4																			0											c.(2392-2394)gTa>gAa		zinc finger protein 106							198.0	191.0	194.0					15																	42742008		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42742008A>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2393T>A	15.37:g.42742008A>T	ENSP00000263805:p.Val798Glu					ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.V798E	NM_022473.1	NP_071918.1					2	2719	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.2393T>A	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254848	0.80135	.	.	ENSG00000103994	ENST00000263805	T	0.57107	0.42	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.70500	0.3231	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.973	T	0.73408	-0.3992	10	0.87932	D	0	-17.0572	16.1811	0.81903	1.0:0.0:0.0:0.0	.	581;798	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	E	798	ENSP00000263805:V798E	ENSP00000263805:V798E	V	-	2	0	ZFP106	40529300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.159000	0.77483	2.218000	0.71995	0.528000	0.53228	GTA		0.458	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		8	295	0	0	0	1	0	8	295				
TRAV2	28691	broad.mit.edu	37	14	22180791	22180791	+	RNA	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:22180791A>T	ENST00000390424.2	+	0	74				AE000658.31_ENST00000542992.1_lincRNA					T cell receptor alpha variable 2																		TGTTTTCTGTAGTTGCAGAAA	0.418																																						ENST00000390424.2																			0																				81.0	76.0	77.0					14																	22180791		1864	4108	5972			28691							g.chr14:22180791A>T	AE000658		14q11.2	2012-02-07			ENSG00000211776	ENSG00000211776		"""T cell receptors / TRA locus"""	12116	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168980		14.37:g.22180791A>T														0	74	+									RNA	SNP	ENST00000390424.2	37																																																																																						0.418	TRAV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401875.1	NG_001332		5	166	0	0	0	1	0	5	166				
PDIA6	10130	broad.mit.edu	37	2	10929039	10929039	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:10929039G>A	ENST00000272227.3	-	9	1056	c.909C>T	c.(907-909)ccC>ccT	p.P303P	PDIA6_ENST00000540494.1_Silent_p.P300P|PDIA6_ENST00000381611.4_Silent_p.P308P|PDIA6_ENST00000404371.2_Silent_p.P355P|PDIA6_ENST00000404824.2_Silent_p.P351P	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	303					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CAAGGATATGGGGCAGCACAG	0.453																																					GBM(73;509 1219 34219 41343 41551)	ENST00000404371.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18						c.(1063-1065)ccC>ccT		protein disulfide isomerase family A, member 6							142.0	135.0	137.0					2																	10929039		2203	4300	6503	SO:0001819	synonymous_variant	10130				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr2:10929039G>A	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.909C>T	2.37:g.10929039G>A						PDIA6_ENST00000540494.1_Silent_p.P300P|PDIA6_ENST00000404824.2_Silent_p.P351P|PDIA6_ENST00000381611.4_Silent_p.P308P|PDIA6_ENST00000272227.3_Silent_p.P303P	p.P355P			Q15084	PDIA6_HUMAN		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	11	1402	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		303					B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Silent	SNP	ENST00000272227.3	37	c.1065C>T	CCDS1675.1																																																																																				0.453	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		9	1038	0	0	0	1	0	9	1038				
FLVCR2	55640	broad.mit.edu	37	14	76100036	76100036	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:76100036C>G	ENST00000238667.4	+	4	1373	c.1017C>G	c.(1015-1017)taC>taG	p.Y339*	FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000555027.1_Nonsense_Mutation_p.Y54*|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000539311.1_Nonsense_Mutation_p.Y134*|FLVCR2_ENST00000553587.1_Nonsense_Mutation_p.Y87*	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	339					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCTGGCACTACCCGGTAAGGG	0.483																																						ENST00000238667.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1015-1017)taC>taG		feline leukemia virus subgroup C cellular receptor family, member 2							211.0	179.0	190.0					14																	76100036		2203	4300	6503	SO:0001587	stop_gained	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76100036C>G	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1017C>G	14.37:g.76100036C>G	ENSP00000238667:p.Tyr339*					FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000555027.1_Nonsense_Mutation_p.Y54*|FLVCR2_ENST00000539311.1_Nonsense_Mutation_p.Y134*|FLVCR2_ENST00000553587.1_Nonsense_Mutation_p.Y87*|FLVCR2_ENST00000556856.1_Intron	p.Y339*	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	4	1373	+			339					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Nonsense_Mutation	SNP	ENST00000238667.4	37	c.1017C>G	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509737	0.85282	.	.	ENSG00000119686	ENST00000238667;ENST00000539311;ENST00000555058;ENST00000553341;ENST00000553587;ENST00000554580;ENST00000555027	.	.	.	5.67	2.62	0.31277	.	0.222186	0.48286	D	0.000184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.668	8.2669	0.31819	0.0:0.649:0.0:0.351	.	.	.	.	X	339;134;87;40;87;39;54	.	ENSP00000238667:Y339X	Y	+	3	2	AC007182.1	75169789	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	0.820000	0.27323	0.625000	0.30304	0.591000	0.81541	TAC		0.483	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		22	127	0	0	0	1	0	22	127				
MYO5A	4644	broad.mit.edu	37	15	52620073	52620073	+	Silent	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:52620073A>T	ENST00000399231.3	-	35	4854	c.4611T>A	c.(4609-4611)atT>atA	p.I1537I	MYO5A_ENST00000399233.2_Silent_p.I1534I|MYO5A_ENST00000553916.1_Silent_p.I1535I|MYO5A_ENST00000358212.6_Silent_p.I1562I|MYO5A_ENST00000356338.6_Silent_p.I1510I	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1537	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGATGCTGTTAATTGTTGATG	0.378																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(4609-4611)atT>atA		myosin VA (heavy chain 12, myoxin)							279.0	252.0	261.0					15																	52620073		1912	4142	6054	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52620073A>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4611T>A	15.37:g.52620073A>T						MYO5A_ENST00000356338.6_Silent_p.I1510I|MYO5A_ENST00000399233.2_Silent_p.I1534I|MYO5A_ENST00000358212.6_Silent_p.I1562I|MYO5A_ENST00000553916.1_Silent_p.I1535I	p.I1537I	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	35	4854	-			1537			Dilute.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.4611T>A	CCDS42037.1																																																																																				0.378	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		12	1301	0	0	0	1	0	12	1301				
FAM111A	63901	broad.mit.edu	37	11	58919627	58919627	+	Missense_Mutation	SNP	T	T	A	rs371113983		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:58919627T>A	ENST00000528737.1	+	5	3304	c.486T>A	c.(484-486)agT>agA	p.S162R	FAM111A_ENST00000420244.1_Missense_Mutation_p.S162R|FAM111A_ENST00000533703.1_Missense_Mutation_p.S162R|FAM111A_ENST00000361723.3_Missense_Mutation_p.S162R|FAM111A_ENST00000531147.1_Missense_Mutation_p.S162R			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	162					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AAAGTAAAAGTAAGCAGAAGG	0.413																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(484-486)agT>agA		family with sequence similarity 111, member A							105.0	102.0	103.0					11																	58919627		2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58919627T>A	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.486T>A	11.37:g.58919627T>A	ENSP00000434435:p.Ser162Arg					FAM111A_ENST00000533703.1_Missense_Mutation_p.S162R|FAM111A_ENST00000420244.1_Missense_Mutation_p.S162R|FAM111A_ENST00000531147.1_Missense_Mutation_p.S162R|FAM111A_ENST00000361723.3_Missense_Mutation_p.S162R	p.S162R			Q96PZ2	F111A_HUMAN			5	3304	+		all_epithelial(135;0.139)	162					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.486T>A	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.365703	0.61513	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000527629;ENST00000533703;ENST00000531147	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.45	-1.68	0.08212	.	0.496080	0.17830	N	0.160566	T	0.52853	0.1760	M	0.66939	2.045	0.09310	N	1	D	0.69078	0.997	D	0.63597	0.916	T	0.44574	-0.9319	10	0.72032	D	0.01	-15.638	1.659	0.02787	0.2664:0.0769:0.2598:0.3968	.	162	Q96PZ2	F111A_HUMAN	R	162	ENSP00000434435:S162R;ENSP00000406683:S162R;ENSP00000355264:S162R;ENSP00000433154:S162R;ENSP00000431631:S162R	ENSP00000355264:S162R	S	+	3	2	FAM111A	58676203	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.133000	0.10451	-0.130000	0.11599	0.455000	0.32223	AGT		0.413	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		4	178	0	0	0	1	0	4	178				
SLITRK4	139065	broad.mit.edu	37	X	142718022	142718022	+	Silent	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:142718022A>T	ENST00000381779.4	-	2	1128	c.903T>A	c.(901-903)acT>acA	p.T301T	SLITRK4_ENST00000356928.1_Silent_p.T301T|SLITRK4_ENST00000338017.4_Silent_p.T301T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	301						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTGGTTTAGTTACTAATC	0.453																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(901-903)acT>acA		SLIT and NTRK-like family, member 4							171.0	150.0	157.0					X																	142718022		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142718022A>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.903T>A	X.37:g.142718022A>T						SLITRK4_ENST00000356928.1_Silent_p.T301T|SLITRK4_ENST00000338017.4_Silent_p.T301T	p.T301T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	1128	-	Acute lymphoblastic leukemia(192;6.56e-05)		301					Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.903T>A	CCDS14679.1																																																																																				0.453	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		6	301	0	0	0	1	0	6	301				
POLM	27434	broad.mit.edu	37	7	44116128	44116128	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:44116128A>T	ENST00000242248.5	-	6	916	c.815T>A	c.(814-816)cTa>cAa	p.L272Q	POLM_ENST00000395831.3_Intron|POLM_ENST00000492971.1_5'UTR|POLM_ENST00000335195.6_Missense_Mutation_p.L272Q	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	272					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CTGTTGGGTTAGTTTCTGGGG	0.592								DNA polymerases (catalytic subunits)																														ENST00000242248.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						c.(814-816)cTa>cAa	DNA polymerases (catalytic subunits)	polymerase (DNA directed), mu							125.0	118.0	120.0					7																	44116128		2203	4300	6503	SO:0001583	missense	27434				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr7:44116128A>T	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.815T>A	7.37:g.44116128A>T	ENSP00000242248:p.Leu272Gln					POLM_ENST00000492971.1_5'UTR|POLM_ENST00000335195.6_Missense_Mutation_p.L272Q|POLM_ENST00000395831.3_Intron	p.L272Q	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN			6	916	-			272					D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	c.815T>A	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454586	0.63290	.	.	ENSG00000122678	ENST00000335195;ENST00000242248	T;T	0.73897	-0.79;-0.79	5.61	5.61	0.85477	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (2);	.	.	.	.	D	0.89276	0.6669	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.91687	0.5363	9	0.87932	D	0	.	12.1858	0.54239	1.0:0.0:0.0:0.0	.	272;272	Q6P5X8;Q9NP87	.;DPOLM_HUMAN	Q	272	ENSP00000335141:L272Q;ENSP00000242248:L272Q	ENSP00000242248:L272Q	L	-	2	0	POLM	44082653	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.941000	0.70195	2.129000	0.65627	0.528000	0.53228	CTA		0.592	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		8	564	0	0	0	1	0	8	564				
AQP7	364	broad.mit.edu	37	9	33385656	33385656	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:33385656T>A	ENST00000537089.1	-	6	776	c.458A>T	c.(457-459)cAg>cTg	p.Q153L	AQP7_ENST00000539936.1_Missense_Mutation_p.Q245L|AQP7_ENST00000541274.1_Silent_p.T113T|AQP7_ENST00000377425.4_Missense_Mutation_p.Q188L			O14520	AQP7_HUMAN	aquaporin 7	245					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)	p.Q245L(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCTGAAGACCTGTTTGCCCCA	0.597																																						ENST00000537089.1																			1	Substitution - Missense(1)	p.Q245L(1)	lung(1)	NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(457-459)cAg>cTg		aquaporin 7							64.0	72.0	69.0					9																	33385656		2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385656T>A	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.458A>T	9.37:g.33385656T>A	ENSP00000441619:p.Gln153Leu					AQP7_ENST00000541274.1_Silent_p.T113T|AQP7_ENST00000377425.4_Missense_Mutation_p.Q188L|AQP7_ENST00000539936.1_Missense_Mutation_p.Q245L	p.Q153L			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	6	776	-			245					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37	c.458A>T		.	.	.	.	.	.	.	.	.	.	t	10.44	1.350646	0.24512	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T;T;T;T;T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88	5.04	5.04	0.67666	Aquaporin-like (2);	0.122950	0.64402	D	0.000014	T	0.10165	0.0249	.	.	.	0.26175	N	0.9798	B;B;B;B	0.12630	0.0;0.0;0.006;0.001	B;B;B;B	0.15870	0.003;0.005;0.014;0.005	T	0.14282	-1.0478	9	0.62326	D	0.03	-0.6143	12.7904	0.57530	0.0:0.0:0.0:1.0	.	244;245;188;245	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	L	153;244;113;245;188;153;244;245;181	ENSP00000441619:Q153L;ENSP00000368821:Q244L;ENSP00000412868:Q113L;ENSP00000297988:Q245L;ENSP00000396111:Q188L;ENSP00000410138:Q153L;ENSP00000368820:Q244L;ENSP00000439534:Q245L;ENSP00000368817:Q181L	ENSP00000297988:Q245L	Q	-	2	0	AQP7	33375656	0.883000	0.30277	0.564000	0.28396	0.088000	0.18126	5.757000	0.68766	2.118000	0.64928	0.449000	0.29647	CAG		0.597	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		4	216	0	0	0	1	0	4	216				
VWC2L	402117	broad.mit.edu	37	2	215440396	215440396	+	Splice_Site	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:215440396G>A	ENST00000312504.5	+	4	1323	c.521G>A	c.(520-522)gGt>gAt	p.G174D	VWC2L_ENST00000427124.1_Splice_Site_p.V131I|AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	174					negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TGTGTTTCAGGTCCAAACTGC	0.453																																						ENST00000312504.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						c.e4-1		von Willebrand factor C domain containing protein 2-like							163.0	157.0	159.0					2																	215440396		1964	4180	6144	SO:0001630	splice_region_variant	402117					extracellular region		g.chr2:215440396G>A	AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"""von Willebrand factor C domain-containing protein 2-like"""				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.521-1G>A	2.37:g.215440396G>A						AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Splice_Site_p.V131_splice|AC107218.3_ENST00000437883.1_RNA	p.G174_splice	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN			4	1323	+			174					A6NC69|B2RUW7|B7X8X1	Splice_Site	SNP	ENST00000312504.5	37	c.520_splice	CCDS46509.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.41|16.41	3.115992|3.115992	0.56505|0.56505	.|.	.|.	ENSG00000174453|ENSG00000174453	ENST00000312504|ENST00000427124	T|T	0.51574|0.13196	0.7|2.61	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|.	.|.	.|.	.|.	T|T	0.37972|0.37972	0.1023|0.1023	M|M	0.66939|0.66939	2.045|2.045	0.43919|0.43919	D|D	0.996563|0.996563	D|P	0.89917|0.41597	1.0|0.756	D|P	0.97110|0.61722	1.0|0.893	T|T	0.00335|0.00335	-1.1808|-1.1808	8|8	.|.	.|.	.|.	.|.	20.0203|20.0203	0.97492|0.97492	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	174|131	B2RUY7|B7ZW27	VWC2L_HUMAN|.	D|I	174|131	ENSP00000308976:G174D|ENSP00000403779:V131I	.|.	G|V	+|+	2|1	0|0	VWC2L|VWC2L	215148641|215148641	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.476000|9.476000	0.97823|0.97823	2.730000|2.730000	0.93505|0.93505	0.655000|0.655000	0.94253|0.94253	GGT|GTC		0.453	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500	Missense_Mutation	11	1406	0	0	0	1	0	11	1406				
ABCA6	23460	broad.mit.edu	37	17	67107007	67107007	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:67107007A>T	ENST00000284425.2	-	17	2381	c.2207T>A	c.(2206-2208)tTa>tAa	p.L736*		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	736					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)					TTCTGTTTTTAATTTAGCATC	0.299																																						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.(2206-2208)tTa>tAa		ATP-binding cassette, sub-family A (ABC1), member 6							85.0	86.0	85.0					17																	67107007		2202	4298	6500	SO:0001587	stop_gained	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67107007A>T	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.2207T>A	17.37:g.67107007A>T	ENSP00000284425:p.Leu736*						p.L736*	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			17	2381	-	Breast(10;5.65e-12)		736					Q6NSH9|Q8N856|Q8WWZ6	Nonsense_Mutation	SNP	ENST00000284425.2	37	c.2207T>A	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	A	38	7.066029	0.98040	.	.	ENSG00000154262	ENST00000284425	.	.	.	5.06	5.06	0.68205	.	0.000000	0.38548	N	0.001657	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1378	0.65297	1.0:0.0:0.0:0.0	.	.	.	.	X	736	.	ENSP00000284425:L736X	L	-	2	0	ABCA6	64618602	0.269000	0.24143	0.995000	0.50966	0.324000	0.28378	5.117000	0.64667	2.109000	0.64355	0.455000	0.32223	TTA		0.299	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		4	97	0	0	0	1	0	4	97				
CCDC54	84692	broad.mit.edu	37	3	107096763	107096763	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:107096763C>A	ENST00000261058.1	+	1	576	c.329C>A	c.(328-330)aCc>aAc	p.T110N		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	110										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GTCCTGGAAACCAGAATGAAT	0.378																																						ENST00000261058.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						c.(328-330)aCc>aAc		coiled-coil domain containing 54							59.0	57.0	58.0					3																	107096763		2203	4300	6503	SO:0001583	missense	84692							g.chr3:107096763C>A	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.329C>A	3.37:g.107096763C>A	ENSP00000261058:p.Thr110Asn						p.T110N	NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN			1	576	+			110					Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	c.329C>A	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947021	0.34377	.	.	ENSG00000138483	ENST00000261058	T	0.47528	0.84	5.29	0.815	0.18763	.	0.872027	0.09819	N	0.751743	T	0.40546	0.1121	M	0.62723	1.935	0.09310	N	0.999999	B	0.27882	0.192	B	0.23018	0.043	T	0.34527	-0.9825	10	0.49607	T	0.09	0.2336	5.2235	0.15381	0.5188:0.3757:0.0:0.1055	.	110	Q8NEL0	CCD54_HUMAN	N	110	ENSP00000261058:T110N	ENSP00000261058:T110N	T	+	2	0	CCDC54	108579453	0.046000	0.20272	0.385000	0.26158	0.425000	0.31504	-0.058000	0.11750	0.132000	0.18615	0.585000	0.79938	ACC		0.378	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		3	81	1	0	0.00909568	1	0.00918456	3	81				
CPLX3	594855	broad.mit.edu	37	15	75122494	75122494	+	Silent	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:75122494C>A	ENST00000395018.4	+	3	433	c.276C>A	c.(274-276)atC>atA	p.I92I	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	92					insulin secretion (GO:0030073)|regulation of neurotransmitter secretion (GO:0046928)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)	neurotransmitter transporter activity (GO:0005326)			large_intestine(2)|lung(2)	4						AGAGCCAGATCCAGATGGCAG	0.612																																						ENST00000395018.4																			0				large_intestine(2)|lung(2)	4						c.(274-276)atC>atA		complexin 3							56.0	55.0	55.0					15																	75122494		2197	4295	6492	SO:0001819	synonymous_variant	594855					cell junction|synapse	syntaxin binding	g.chr15:75122494C>A	BC018026	CCDS32294.1	15q24.1	2005-08-09			ENSG00000213578	ENSG00000213578			27652	protein-coding gene	gene with protein product		609585				15911881	Standard	NM_001030005		Approved	CPX-III	uc002ayu.1	Q8WVH0	OTTHUMG00000142816	ENST00000395018.4:c.276C>A	15.37:g.75122494C>A						RP11-414J4.2_ENST00000564823.1_RNA	p.I92I	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN			3	433	+			92					D3DW66|Q8TEM6|Q9H818	Silent	SNP	ENST00000395018.4	37	c.276C>A	CCDS32294.1																																																																																				0.612	CPLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286402.2	NM_001030005		10	101	1	0	9.31168e-06	1	9.81844e-06	10	101				
JPH3	57338	broad.mit.edu	37	16	87677910	87677910	+	Silent	SNP	C	C	T	rs372955481		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:87677910C>T	ENST00000284262.2	+	2	671	c.429C>T	c.(427-429)ggC>ggT	p.G143G		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	143	Gly-rich.				calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGGGCTACGGCGTCCGGCAGA	0.682																																						ENST00000284262.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(427-429)ggC>ggT		junctophilin 3		C		0,4396		0,0,2198	49.0	52.0	51.0		429	-7.4	0.4	16		51	2,8596		0,2,4297	no	coding-synonymous	JPH3	NM_020655.2		0,2,6495	TT,TC,CC		0.0233,0.0,0.0154		143/749	87677910	2,12992	2198	4299	6497	SO:0001819	synonymous_variant	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87677910C>T	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.429C>T	16.37:g.87677910C>T							p.G143G	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	671	+			143			Gly-rich.		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	ENST00000284262.2	37	c.429C>T	CCDS10962.1																																																																																				0.682	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			6	254	0	0	0	1	0	6	254				
POLR3B	55703	broad.mit.edu	37	12	106760502	106760502	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:106760502T>A	ENST00000228347.4	+	4	449		c.e4+2		POLR3B_ENST00000539066.1_Splice_Site	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B						defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTACTTAAAGTAAGGAACCAA	0.348																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.e4+2		polymerase (RNA) III (DNA directed) polypeptide B							100.0	100.0	100.0					12																	106760502		2203	4300	6503	SO:0001630	splice_region_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106760502T>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.227+2T>A	12.37:g.106760502T>A						POLR3B_ENST00000539066.1_Splice_Site		NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			4	449	+								A8K6H0|B3KV73|F5H1E6|Q9NW59	Splice_Site	SNP	ENST00000228347.4	37		CCDS9105.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.571133	0.86542	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9797	0.71303	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLR3B	105284632	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.914000	0.87478	1.935000	0.56089	0.477000	0.44152	.		0.348	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	Intron	5	178	0	0	0	1	0	5	178				
PRDM16	63976	broad.mit.edu	37	1	3102700	3102700	+	Missense_Mutation	SNP	G	G	A	rs183153140	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:3102700G>A	ENST00000270722.5	+	2	98	c.49G>A	c.(49-51)Gtt>Att	p.V17I	PRDM16_ENST00000511072.1_Missense_Mutation_p.V17I|PRDM16_ENST00000514189.1_Missense_Mutation_p.V17I|PRDM16_ENST00000441472.2_Missense_Mutation_p.V17I|PRDM16_ENST00000378391.2_Missense_Mutation_p.V17I|PRDM16_ENST00000442529.2_Missense_Mutation_p.V17I|PRDM16_ENST00000378398.3_Missense_Mutation_p.V17I			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	17					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.V17I(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGACGGTGACGTTGTAAATAA	0.627			T	EVI1	"""MDS, AML"""								g|||	6	0.00119808	0.0045	0.0	5008	,	,		16707	0.0		0.0	False		,,,				2504	0.0					ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		1	Substitution - Missense(1)	p.V17I(1)	kidney(1)	breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(49-51)Gtt>Att		PR domain containing 16		A	ILE/VAL,ILE/VAL	13,4335		0,13,2161	44.0	56.0	52.0		49,49	-4.7	0.9	1		52	0,8508		0,0,4254	yes	missense,missense	PRDM16	NM_022114.3,NM_199454.2	29,29	0,13,6415	AA,AG,GG		0.0,0.299,0.1011	benign,benign	17/1277,17/1258	3102700	13,12843	2174	4254	6428	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3102700G>A	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.49G>A	1.37:g.3102700G>A	ENSP00000270722:p.Val17Ile					PRDM16_ENST00000442529.2_Missense_Mutation_p.V17I|PRDM16_ENST00000514189.1_Missense_Mutation_p.V17I|PRDM16_ENST00000511072.1_Missense_Mutation_p.V17I|PRDM16_ENST00000270722.5_Missense_Mutation_p.V17I|PRDM16_ENST00000378391.2_Missense_Mutation_p.V17I|PRDM16_ENST00000441472.2_Missense_Mutation_p.V17I	p.V17I			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	2	131	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	17					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.49G>A	CCDS41236.2	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	g	8.338	0.828058	0.16749	0.00299	0.0	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.1	-4.66	0.03329	.	0.839624	0.09660	N	0.772636	T	0.08403	0.0209	N	0.12182	0.205	0.20703	N	0.999867	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.38351	-0.9665	10	0.02654	T	1	.	9.2361	0.37466	0.6627:0.0999:0.2374:0.0	.	17;17;17;17	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	I	17	ENSP00000426975:V17I;ENSP00000367651:V17I;ENSP00000407968:V17I;ENSP00000405253:V17I;ENSP00000367643:V17I;ENSP00000421400:V17I;ENSP00000270722:V17I	ENSP00000270722:V17I	V	+	1	0	PRDM16	3092560	0.120000	0.22244	0.894000	0.35097	0.851000	0.48451	-0.629000	0.05508	-1.253000	0.02488	-0.927000	0.02713	GTT		0.627	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		19	48	0	0	0	1	0	19	48				
SNRNP48	154007	broad.mit.edu	37	6	7606369	7606369	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:7606369T>A	ENST00000342415.5	+	8	971	c.912T>A	c.(910-912)caT>caA	p.H304Q		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	304	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAAGCCCACATAAAAGAAAAA	0.428																																						ENST00000342415.5																			0				kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(910-912)caT>caA		small nuclear ribonucleoprotein 48kDa (U11/U12)							81.0	79.0	79.0					6																	7606369		2203	4300	6503	SO:0001583	missense	154007				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	g.chr6:7606369T>A	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.912T>A	6.37:g.7606369T>A	ENSP00000339834:p.His304Gln						p.H304Q	NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN			8	971	+			304			Arg-rich.		A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	ENST00000342415.5	37	c.912T>A	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.409395	0.42715	.	.	ENSG00000168566	ENST00000342415	T	0.30448	1.53	6.02	0.428	0.16499	.	0.415365	0.27749	N	0.018009	T	0.09686	0.0238	L	0.44542	1.39	0.26951	N	0.966026	B	0.28128	0.201	B	0.24701	0.055	T	0.20638	-1.0269	10	0.46703	T	0.11	-15.4244	9.6789	0.40059	0.0:0.492:0.0:0.508	.	304	Q6IEG0	SNR48_HUMAN	Q	304	ENSP00000339834:H304Q	ENSP00000339834:H304Q	H	+	3	2	SNRNP48	7551368	0.279000	0.24239	0.676000	0.29932	0.702000	0.40608	-0.569000	0.05902	-0.023000	0.13963	0.533000	0.62120	CAT		0.428	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		4	86	0	0	0	1	0	4	86				
ST18	9705	broad.mit.edu	37	8	53077787	53077787	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:53077787T>A	ENST00000276480.7	-	12	1888		c.e12-2			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGCAAGAACTAAGCACAAAA	0.428																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.e12-2		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							157.0	150.0	152.0					8																	53077787		2203	4300	6503	SO:0001630	splice_region_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53077787T>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1205-2A>T	8.37:g.53077787T>A								NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			12	1888	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)						Q17RY1	Splice_Site	SNP	ENST00000276480.7	37		CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.797320	0.90538	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ST18	53240340	1.000000	0.71417	0.968000	0.41197	0.966000	0.64601	7.903000	0.87398	2.255000	0.74692	0.533000	0.62120	.		0.428	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		Intron	14	969	0	0	0	1	0	14	969				
CERS5	91012	broad.mit.edu	37	12	50537783	50537783	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:50537783C>T	ENST00000317551.6	-	2	379	c.255G>A	c.(253-255)caG>caA	p.Q85Q	CERS5_ENST00000422340.2_Silent_p.Q27Q	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	85					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGGGTTGGGCCTGATAAGGAC	0.428																																						ENST00000317551.6																			0											c.(253-255)caG>caA		ceramide synthase 5							162.0	149.0	153.0					12																	50537783		2203	4300	6503	SO:0001819	synonymous_variant	91012				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr12:50537783C>T		CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.255G>A	12.37:g.50537783C>T						CERS5_ENST00000422340.2_Silent_p.Q27Q	p.Q85Q	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN			2	379	-			85					B4DV54	Silent	SNP	ENST00000317551.6	37	c.255G>A	CCDS8801.1	.	.	.	.	.	.	.	.	.	.	C	9.405	1.079140	0.20227	.	.	ENSG00000139624	ENST00000547800	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	T	0.48696	0.1514	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44298	-0.9337	4	.	.	.	0.5836	4.7759	0.13178	0.0:0.7394:0.0:0.2606	.	.	.	.	K	20	.	.	R	-	2	0	CERS5	48824050	0.846000	0.29590	0.995000	0.50966	0.999000	0.98932	1.351000	0.34022	2.518000	0.84900	0.655000	0.94253	AGG		0.428	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190		6	285	0	0	0	1	0	6	285				
CXCR2P1	3580	broad.mit.edu	37	2	218925474	218925474	+	RNA	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:218925474G>A	ENST00000439871.1	-	0	906					NR_002712.1				chemokine (C-X-C motif) receptor 2 pseudogene 1																		CATGATCGCAGCGGCACGATG	0.522																																						ENST00000439871.1																			0																																																			3580							g.chr2:218925474G>A	M98335		2q35	2012-05-02	2010-04-14	2010-04-14	ENSG00000229754	ENSG00000229754			6028	pseudogene	pseudogene			"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P		1427896, 1303245	Standard	NR_002712		Approved		uc002vgx.3		OTTHUMG00000155244		2.37:g.218925474G>A								NR_002712.1						0	906	-									RNA	SNP	ENST00000439871.1	37																																																																																						0.522	CXCR2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338985.1	NR_002712		5	278	0	0	0	1	0	5	278				
CCL4L2	388372	broad.mit.edu	37	17	34641466	34641466	+	Missense_Mutation	SNP	G	G	A	rs148287175	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:34641466G>A	ENST00000394465.2	+	3	525	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	TBC1D3H_ENST00000535446.1_Intron|TBC1D3C_ENST00000308078.7_Intron|TBC1D3H_ENST00000400684.4_Intron|TBC1D3C_ENST00000451448.2_Intron|CCL4L2_ENST00000482104.1_3'UTR|CCL4L2_ENST00000339270.6_Silent_p.E31E			Q8NHW4	CC4L_HUMAN	chemokine (C-C motif) ligand 4-like 2	70					cell chemotaxis (GO:0060326)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)	1		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AACCAAAAGAGGCAAGCAAGT	0.512													g|||	15	0.00299521	0.0	0.0029	5008	,	,		21349	0.004		0.003	False		,,,				2504	0.0061					ENST00000394465.2																			0				endometrium(1)	1						c.(208-210)Ggc>Agc		chemokine (C-C motif) ligand 4-like 2		G	SER/GLY	10,4292		2,6,2143	182.0	128.0	147.0		208	3.1	1.0	17	dbSNP_134	147	47,8123		9,29,4047	no	missense	CCL4L2	NM_207007.2	56	11,35,6190	AA,AG,GG		0.5753,0.2325,0.457	probably-damaging	70/93	34641466	57,12415	2151	4085	6236	SO:0001583	missense	388372				chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity	g.chr17:34641466G>A			17q12	2005-08-09			ENSG00000197262			"""Chemokine ligands"""	24066	protein-coding gene	gene with protein product		603782				15028295	Standard	NM_001291468		Approved		uc010cuj.3	Q8NHW4	OTTHUMG00000133066	ENST00000394465.2:c.208G>A	17.37:g.34641466G>A	ENSP00000377978:p.Gly70Ser					TBC1D3H_ENST00000400684.4_Intron|CCL4L2_ENST00000482104.1_3'UTR|TBC1D3C_ENST00000308078.7_Intron|TBC1D3C_ENST00000451448.2_Intron|TBC1D3H_ENST00000535446.1_Intron|CCL4L2_ENST00000339270.6_Silent_p.E31E	p.G70S			Q8NHW4	CC4L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	525	+		Breast(25;0.102)|Ovarian(249;0.17)	70					B2RUZ3|B7ZMA8|Q50EM1|Q50EM2|Q50EM3|Q50EM4|Q50EM5|Q50EM6|Q50EM7|Q50EM8|Q569J2|Q6NSB0	Missense_Mutation	SNP	ENST00000394465.2	37	c.208G>A	CCDS11311.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670233	0.47677	0.002325	0.005753	ENSG00000197262	ENST00000394465	T	0.08193	3.12	3.1	3.1	0.35709	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.094754	0.41500	N	0.000865	T	0.14098	0.0341	.	.	.	0.80722	D	1	D	0.56521	0.976	P	0.59546	0.859	T	0.00492	-1.1707	9	0.49607	T	0.09	.	9.7923	0.40713	0.0:0.0:1.0:0.0	.	70	Q8NHW4	CC4L_HUMAN	S	70	ENSP00000377978:G70S	ENSP00000377978:G70S	G	+	1	0	CCL4L2	31665579	1.000000	0.71417	0.987000	0.45799	0.432000	0.31715	5.027000	0.64109	1.306000	0.44926	0.420000	0.28162	GGC		0.512	CCL4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256699.1	NM_207007		7	226	0	0	0	1	0	7	226				
MINPP1	9562	broad.mit.edu	37	10	89312005	89312005	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:89312005G>A	ENST00000371996.4	+	5	1275	c.1234G>A	c.(1234-1236)Gcc>Acc	p.A412T	MINPP1_ENST00000536010.1_Missense_Mutation_p.A211T|MINPP1_ENST00000371994.4_3'UTR|MINPP1_ENST00000472891.1_3'UTR	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	412					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		TGTACCTTATGCCTCGAACCT	0.393																																						ENST00000371996.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5						c.(1234-1236)Gcc>Acc		multiple inositol-polyphosphate phosphatase 1							145.0	136.0	139.0					10																	89312005		2203	4300	6503	SO:0001583	missense	9562				bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity	g.chr10:89312005G>A	AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"""multiple inositol polyphosphate histidine phosphatase, 1"""			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.1234G>A	10.37:g.89312005G>A	ENSP00000361064:p.Ala412Thr					MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000536010.1_Missense_Mutation_p.A211T|MINPP1_ENST00000371994.4_3'UTR	p.A412T	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)	5	1275	+		Colorectal(252;0.122)	412					F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Missense_Mutation	SNP	ENST00000371996.4	37	c.1234G>A	CCDS7384.1	.	.	.	.	.	.	.	.	.	.	G	35	5.562040	0.96527	.	.	ENSG00000107789	ENST00000371996;ENST00000546140;ENST00000536010	T;T	0.81163	-1.46;-1.46	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.90823	0.7118	M	0.83483	2.645	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	D	0.90909	0.4774	10	0.72032	D	0.01	-18.3336	19.6603	0.95864	0.0:0.0:1.0:0.0	.	412	Q9UNW1	MINP1_HUMAN	T	412;271;211	ENSP00000361064:A412T;ENSP00000437823:A211T	ENSP00000361064:A412T	A	+	1	0	MINPP1	89301985	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.325000	0.96381	2.894000	0.99253	0.591000	0.81541	GCC		0.393	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049221.1			3	64	0	0	0	1	0	3	64				
CREBBP	1387	broad.mit.edu	37	16	3820765	3820765	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:3820765C>T	ENST00000262367.5	-	14	3495	c.2686G>A	c.(2686-2688)Ggg>Agg	p.G896R	CREBBP_ENST00000382070.3_Missense_Mutation_p.G858R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	896					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGAGTCTGCCCGGAAGACGAC	0.652			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(2686-2688)Ggg>Agg		CREB binding protein							79.0	70.0	73.0					16																	3820765		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3820765C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2686G>A	16.37:g.3820765C>T	ENSP00000262367:p.Gly896Arg					CREBBP_ENST00000382070.3_Missense_Mutation_p.G858R	p.G896R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	14	3495	-		Ovarian(90;0.0266)	896					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.2686G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936125	0.34189	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83419	-1.72;-1.64	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.87386	0.6164	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81841	-0.0747	10	0.14656	T	0.56	-14.8644	20.181	0.98201	0.0:1.0:0.0:0.0	.	926;896	Q4LE28;Q92793	.;CBP_HUMAN	R	896;926;858	ENSP00000262367:G896R;ENSP00000371502:G858R	ENSP00000262367:G896R	G	-	1	0	CREBBP	3760766	1.000000	0.71417	0.994000	0.49952	0.132000	0.20833	6.999000	0.76283	2.840000	0.97914	0.655000	0.94253	GGG		0.652	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		3	94	0	0	0	1	0	3	94				
PBX4	80714	broad.mit.edu	37	19	19675807	19675807	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:19675807G>A	ENST00000251203.9	-	6	1146	c.860C>T	c.(859-861)gCt>gTt	p.A287V		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	287					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GGTATCCACAGCCGTTTTACC	0.527																																						ENST00000251203.8																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.(859-861)gCt>gTt		pre-B-cell leukemia homeobox 4							290.0	292.0	292.0					19																	19675807		2203	4300	6503	SO:0001583	missense	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19675807G>A	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.860C>T	19.37:g.19675807G>A	ENSP00000251203:p.Ala287Val						p.A287V	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			6	1146	-			287					A5D8Y0|B3KUK9	Missense_Mutation	SNP	ENST00000251203.9	37	c.860C>T	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661332	0.47572	.	.	ENSG00000105717	ENST00000251203	D	0.91521	-2.86	3.67	2.63	0.31362	.	0.225560	0.36778	N	0.002418	D	0.88897	0.6562	M	0.77103	2.36	0.53688	D	0.99997	B	0.20368	0.044	B	0.19666	0.026	D	0.85634	0.1272	10	0.66056	D	0.02	-13.4261	8.7829	0.34802	0.1149:0.0:0.8851:0.0	.	287	Q9BYU1	PBX4_HUMAN	V	287	ENSP00000251203:A287V	ENSP00000251203:A287V	A	-	2	0	PBX4	19536807	0.892000	0.30473	0.001000	0.08648	0.010000	0.07245	4.304000	0.59104	0.771000	0.33359	0.505000	0.49811	GCT		0.527	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			5	266	0	0	0	1	0	5	266				
MACF1	23499	broad.mit.edu	37	1	39934334	39934334	+	Silent	SNP	C	C	T	rs200044531		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:39934334C>T	ENST00000372915.3	+	94	21585	c.21498C>T	c.(21496-21498)acC>acT	p.T7166T	MACF1_ENST00000564288.1_Silent_p.T7273T|MACF1_ENST00000567887.1_Silent_p.T7310T|MACF1_ENST00000317713.7_Silent_p.T5208T|MACF1_ENST00000361689.2_Silent_p.T5208T|MACF1_ENST00000539005.1_Silent_p.T5078T|MACF1_ENST00000289893.4_Silent_p.T5716T|MACF1_ENST00000545844.1_Silent_p.T5208T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7166	C-terminal tail. {ECO:0000250}.|GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.T5208T(1)|p.T5716T(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	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)			TGCGCAGCACCGTGATGGTTC	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		15195	0.0		0.0	False		,,,				2504	0.001					ENST00000564288.1																			2	Substitution - coding silent(2)	p.T5208T(1)|p.T5716T(1)	kidney(2)	breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(21817-21819)acC>acT		microtubule-actin crosslinking factor 1		C	,	0,4406		0,0,2203	118.0	113.0	114.0		15624,17148	-7.0	0.9	1		114	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	MACF1	NM_012090.4,NM_033044.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	5208/5431,5716/5939	39934334	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39934334C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21498C>T	1.37:g.39934334C>T						MACF1_ENST00000372915.3_Silent_p.T7166T|MACF1_ENST00000567887.1_Silent_p.T7310T|MACF1_ENST00000289893.4_Silent_p.T5716T|MACF1_ENST00000539005.1_Silent_p.T5078T|MACF1_ENST00000317713.7_Silent_p.T5208T|MACF1_ENST00000545844.1_Silent_p.T5208T|MACF1_ENST00000361689.2_Silent_p.T5208T	p.T7273T			Q9UPN3	MACF1_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)		96	22596	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7166			C-terminal tail (By similarity).|Ser-rich.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.21819C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.828|9.828	1.187637|1.187637	0.21870|0.21870	0.0|0.0	2.33E-4|2.33E-4	ENSG00000127603|ENSG00000127603	ENST00000360115;ENST00000442046|ENST00000372925;ENST00000446276	.|.	.|.	.|.	6.17|6.17	-7.0|-7.0	0.01599|0.01599	.|.	.|.	.|.	.|.	.|.	T|T	0.46946|0.46946	0.1419|0.1419	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51172|0.51172	-0.8739|-0.8739	4|4	.|.	.|.	.|.	.|.	7.0641|7.0641	0.25141|0.25141	0.2078:0.5391:0.1147:0.1384|0.2078:0.5391:0.1147:0.1384	.|.	.|.	.|.	.|.	L|C	321;109|4212;196	.|.	.|.	P|R	+|+	2|1	0|0	MACF1|MACF1	39706921|39706921	0.000000|0.000000	0.05858|0.05858	0.925000|0.925000	0.36789|0.36789	0.991000|0.991000	0.79684|0.79684	-2.310000|-2.310000	0.01129|0.01129	-1.026000|-1.026000	0.03330|0.03330	-0.262000|-0.262000	0.10625|0.10625	CCG|CGT		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	159	0	0	0	1	0	3	159				
AHNAK	79026	broad.mit.edu	37	11	62290456	62290456	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:62290456C>T	ENST00000378024.4	-	5	11707	c.11433G>A	c.(11431-11433)aaG>aaA	p.K3811K	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3811					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)				GCATGCTGAACTTGGGCATTT	0.517																																						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.(11431-11433)aaG>aaA		AHNAK nucleoprotein							255.0	262.0	259.0					11																	62290456		2202	4296	6498	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62290456C>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.11433G>A	11.37:g.62290456C>T						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.K3811K	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	11707	-		Melanoma(852;0.155)	3811					A1A586	Silent	SNP	ENST00000378024.4	37	c.11433G>A	CCDS31584.1																																																																																				0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		6	381	0	0	0	1	0	6	381				
RASGEF1B	153020	broad.mit.edu	37	4	82355851	82355851	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:82355851A>G	ENST00000264400.2	-	11	1293	c.1142T>C	c.(1141-1143)aTt>aCt	p.I381T	RASGEF1B_ENST00000509081.1_Missense_Mutation_p.I380T|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.I339T	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	381	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.I381T(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GAGGAAATAAATATCTTTGAT	0.373																																						ENST00000509081.1																			1	Substitution - Missense(1)	p.I381T(1)	kidney(1)	endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(1138-1140)aTt>aCt		RasGEF domain family, member 1B							68.0	64.0	65.0					4																	82355851		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82355851A>G	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.1142T>C	4.37:g.82355851A>G	ENSP00000264400:p.Ile381Thr					RASGEF1B_ENST00000335927.7_Missense_Mutation_p.I339T|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.I381T	p.I380T			Q0VAM2	RGF1B_HUMAN			11	1360	-			381			Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.1139T>C	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.264635	0.80358	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	4.62	4.62	0.57501	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	M	0.84683	2.71	0.80722	D	1	P;D;D	0.63046	0.935;0.99;0.992	P;D;D	0.67900	0.738;0.948;0.954	T	0.69749	-0.5061	10	0.87932	D	0	.	13.8491	0.63485	1.0:0.0:0.0:0.0	.	339;380;381	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	T	380;381;339;226	ENSP00000425393:I380T;ENSP00000264400:I381T;ENSP00000338437:I339T;ENSP00000426929:I226T	ENSP00000264400:I381T	I	-	2	0	RASGEF1B	82574875	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.685000	0.91246	1.954000	0.56735	0.477000	0.44152	ATT		0.373	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		6	41	0	0	0	1	0	6	41				
ABCA13	154664	broad.mit.edu	37	7	48556346	48556346	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:48556346C>T	ENST00000435803.1	+	52	13690	c.13666C>T	c.(13666-13668)Ctg>Ttg	p.L4556L	ABCA13_ENST00000544596.1_Silent_p.L286L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4556					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L4556L(1)|p.L4501L(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATGGATGTACCTGATGTCCAG	0.368																																						ENST00000435803.1																			2	Substitution - coding silent(2)	p.L4556L(1)|p.L4501L(1)	kidney(2)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(13666-13668)Ctg>Ttg		ATP-binding cassette, sub-family A (ABC1), member 13							283.0	277.0	279.0					7																	48556346		1903	4118	6021	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48556346C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13666C>T	7.37:g.48556346C>T						ABCA13_ENST00000544596.1_Silent_p.L286L	p.L4556L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			52	13690	+			4556					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.13666C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	9.014	0.983117	0.18889	.	.	ENSG00000179869	ENST00000435451	.	.	.	5.35	4.47	0.54385	.	.	.	.	.	T	0.63129	0.2485	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61168	-0.7117	4	.	.	.	.	11.7019	0.51575	0.0:0.9179:0.0:0.0821	.	.	.	.	L	76	.	.	P	+	2	0	ABCA13	48526892	0.976000	0.34144	0.983000	0.44433	0.988000	0.76386	1.353000	0.34045	1.237000	0.43756	0.655000	0.94253	CCT		0.368	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		153	395	0	0	0	1	0	153	395				
MAP7	9053	broad.mit.edu	37	6	136687061	136687061	+	Missense_Mutation	SNP	C	C	A	rs201045496		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:136687061C>A	ENST00000354570.3	-	10	1495	c.1085G>T	c.(1084-1086)cGg>cTg	p.R362L	MAP7_ENST00000544465.1_Missense_Mutation_p.R347L|RP3-406A7.3_ENST00000571188.1_RNA|MAP7_ENST00000438100.2_Missense_Mutation_p.R347L|MAP7_ENST00000432797.2_Missense_Mutation_p.R216L|MAP7_ENST00000454590.1_Missense_Mutation_p.R384L	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	362	Pro-rich.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GGATGGGGGCCGGACCTGAGC	0.582																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1084-1086)cGg>cTg		microtubule-associated protein 7							65.0	68.0	67.0					6																	136687061		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136687061C>A	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1085G>T	6.37:g.136687061C>A	ENSP00000346581:p.Arg362Leu					MAP7_ENST00000432797.2_Missense_Mutation_p.R216L|MAP7_ENST00000454590.1_Missense_Mutation_p.R384L|MAP7_ENST00000544465.1_Missense_Mutation_p.R347L|MAP7_ENST00000438100.2_Missense_Mutation_p.R347L	p.R362L	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	10	1495	-	Colorectal(23;0.24)		362			Pro-rich.		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.1085G>T	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133245	0.56828	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79	5.8	4.92	0.64577	.	0.510422	0.17989	N	0.155280	T	0.06325	0.0163	M	0.67953	2.075	0.31417	N	0.674817	B;B;P;B;P;P;B	0.39782	0.418;0.418;0.553;0.418;0.688;0.553;0.418	B;B;B;B;B;B;B	0.35727	0.065;0.065;0.138;0.065;0.209;0.209;0.103	T	0.14699	-1.0463	10	0.33141	T	0.24	-0.4889	14.903	0.70696	0.0:0.8521:0.1479:0.0	.	347;384;347;384;268;325;362	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	L	362;384;347;347;216;268	ENSP00000346581:R362L;ENSP00000414712:R384L;ENSP00000445737:R347L;ENSP00000400790:R347L;ENSP00000414879:R216L	ENSP00000344217:R268L	R	-	2	0	MAP7	136728754	0.964000	0.33143	0.867000	0.34043	0.987000	0.75469	2.324000	0.43831	1.415000	0.47037	0.650000	0.86243	CGG		0.582	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		9	146	1	0	7.48243e-07	1	7.97097e-07	9	146				
FLG	2312	broad.mit.edu	37	1	152284645	152284645	+	Missense_Mutation	SNP	G	G	A	rs574029900		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:152284645G>A	ENST00000368799.1	-	3	2752	c.2717C>T	c.(2716-2718)tCc>tTc	p.S906F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	906	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)			TGAGTGCCTGGAGCCGTCTCT	0.562									Ichthyosis				-|||	1	0.000199681	0.0008	0.0	5008	,	,		21295	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.(2716-2718)tCc>tTc		filaggrin							394.0	376.0	382.0					1																	152284645		2203	4300	6503	SO:0001583	missense	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.chr1:152284645G>A	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.2717C>T	1.37:g.152284645G>A	ENSP00000357789:p.Ser906Phe					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S906F	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2752	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		906			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2717C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	3.290	-0.145087	0.06627	.	.	ENSG00000143631	ENST00000368799	T	0.09350	2.99	2.93	0.973	0.19710	.	.	.	.	.	T	0.03608	0.0103	L	0.59436	1.845	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.39781	-0.9597	9	0.62326	D	0.03	.	5.1015	0.14762	0.3041:0.0:0.6959:0.0	.	906	P20930	FILA_HUMAN	F	906	ENSP00000357789:S906F	ENSP00000357789:S906F	S	-	2	0	FLG	150551269	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.105000	0.03323	0.023000	0.15187	-0.459000	0.05422	TCC		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		16	233	0	0	0	1	0	16	233				
TSSC2	650368	broad.mit.edu	37	11	3424149	3424149	+	RNA	SNP	C	C	T	rs112841660	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:3424149C>T	ENST00000529482.1	+	0	808									tumor suppressing subtransferable candidate 2 pseudogene																		TCATAGAGGACGAAGACTTCT	0.562													N|||	17	0.00339457	0.0113	0.0029	5008	,	,		17237	0.0		0.0	False		,,,				2504	0.0					ENST00000529482.1																			0																																																			650368							g.chr11:3424149C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3424149C>T														0	808	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.562	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	4	0	0	0	1	0	4	4				
CUL5	8065	broad.mit.edu	37	11	107974931	107974931	+	Silent	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:107974931A>G	ENST00000393094.2	+	19	2779	c.2163A>G	c.(2161-2163)caA>caG	p.Q721Q	RP11-144G7.2_ENST00000525548.1_RNA	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	721					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)	p.Q721Q(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CTATCATACAAATAATGAAAA	0.249																																						ENST00000393094.2																			1	Substitution - coding silent(1)	p.Q721Q(1)	kidney(1)	endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(2161-2163)caA>caG		cullin 5							35.0	39.0	38.0					11																	107974931		2194	4289	6483	SO:0001819	synonymous_variant	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107974931A>G	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.2163A>G	11.37:g.107974931A>G							p.Q721Q	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	19	2779	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	721					A8K960|O14766|Q9BZC6	Silent	SNP	ENST00000393094.2	37	c.2163A>G	CCDS31668.1																																																																																				0.249	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			12	10	0	0	0	1	0	12	10				
ANKS1A	23294	broad.mit.edu	37	6	35053585	35053585	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:35053585G>A	ENST00000360359.3	+	22	3313	c.3175G>A	c.(3175-3177)Gaa>Aaa	p.E1059K	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	1059	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGGCCTTCGAAGTGGCCTA	0.567																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(3175-3177)Gaa>Aaa		ankyrin repeat and sterile alpha motif domain containing 1A							53.0	54.0	53.0					6																	35053585		2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:35053585G>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.3175G>A	6.37:g.35053585G>A	ENSP00000353518:p.Glu1059Lys					ANKS1A_ENST00000535627.1_Intron	p.E1059K	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			22	3313	+			1059			PID.		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.3175G>A	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846825	0.71603	.	.	ENSG00000064999	ENST00000360359;ENST00000373990	T	0.14266	2.52	5.55	4.69	0.59074	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.49916	D	0.000132	T	0.30916	0.0780	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.986;0.998	T	0.27297	-1.0078	10	0.87932	D	0	-28.2549	14.3628	0.66785	0.0711:0.0:0.9289:0.0	.	385;385;1059	Q49AR9;E7EM84;Q92625	.;.;ANS1A_HUMAN	K	1059;385	ENSP00000353518:E1059K	ENSP00000353518:E1059K	E	+	1	0	ANKS1A	35161563	1.000000	0.71417	0.844000	0.33320	0.018000	0.09664	9.869000	0.99810	1.354000	0.45846	-0.136000	0.14681	GAA		0.567	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		6	51	0	0	0	1	0	6	51				
RNF24	11237	broad.mit.edu	37	20	3915641	3915641	+	Splice_Site	SNP	T	T	C	rs370577099		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:3915641T>C	ENST00000336095.6	-	5	559	c.308A>G	c.(307-309)aAg>aGg	p.K103R	RNF24_ENST00000545616.2_Splice_Site_p.K124R|RNF24_ENST00000358395.6_Splice_Site_p.K103R|RNF24_ENST00000432261.2_Splice_Site_p.K124R	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	103						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(1)|upper_aerodigestive_tract(1)	2						CAATACTTACTTTCTGTGGAA	0.458																																						ENST00000336095.5																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.e5+1		ring finger protein 24		T	ARG/LYS,ARG/LYS,ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	134.0	111.0	119.0		308,371,308	5.9	1.0	20		119	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice,missense-near-splice	RNF24	NM_001134337.1,NM_001134338.1,NM_007219.3	26,26,26	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	103/149,124/170,103/149	3915641	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	11237					Golgi membrane|integral to membrane	zinc ion binding	g.chr20:3915641T>C	AF151081	CCDS13074.1, CCDS46577.1	20p13	2013-01-09			ENSG00000101236	ENSG00000101236		"""RING-type (C3HC4) zinc fingers"""	13779	protein-coding gene	gene with protein product		612489					Standard	NM_007219		Approved	G1L	uc002wki.2	Q9Y225	OTTHUMG00000031770	ENST00000336095.6:c.308+1A>G	20.37:g.3915641T>C						RNF24_ENST00000432261.2_Splice_Site_p.K124_splice|RNF24_ENST00000545616.1_Splice_Site_p.K124_splice|RNF24_ENST00000358395.6_Splice_Site_p.K103_splice	p.K103_splice	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN			5	559	-			103					D3DVZ2|D3DVZ3|Q9UMH1	Splice_Site	SNP	ENST00000336095.6	37	c.308_splice	CCDS13074.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.557731	0.86231	2.27E-4	0.0	ENSG00000101236	ENST00000336095;ENST00000358395;ENST00000545616;ENST00000432261	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.9	5.9	0.94986	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	N	0.16233	0.39	0.80722	D	1	P;P	0.51057	0.475;0.941	B;D	0.71414	0.159;0.973	T	0.42783	-0.9431	9	.	.	.	-17.7496	14.2717	0.66155	0.0:0.0:0.0:1.0	.	124;103	Q9Y225-2;Q9Y225	.;RNF24_HUMAN	R	103;103;124;124	ENSP00000336753:K103R;ENSP00000351166:K103R;ENSP00000444711:K124R;ENSP00000388550:K124R	.	K	-	2	0	RNF24	3863641	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.918000	0.75788	2.248000	0.74166	0.459000	0.35465	AAG		0.458	RNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077795.2		Missense_Mutation	3	204	0	0	0	1	0	3	204				
PCSK7	9159	broad.mit.edu	37	11	117079654	117079654	+	Missense_Mutation	SNP	A	A	T	rs471009		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:117079654A>T	ENST00000320934.3	-	13	2280	c.1650T>A	c.(1648-1650)agT>agA	p.S550R	PCSK7_ENST00000529458.1_5'Flank|PCSK7_ENST00000540028.1_Missense_Mutation_p.S191R	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	550					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	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;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		ACATCATGCCACTGGGGCAGA	0.607			T	IGH@	MLCLS																																	ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(1648-1650)agT>agA		proprotein convertase subtilisin/kexin type 7							59.0	60.0	59.0					11																	117079654		2201	4296	6497	SO:0001583	missense	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117079654A>T	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1650T>A	11.37:g.117079654A>T	ENSP00000325917:p.Ser550Arg					PCSK7_ENST00000540028.1_Missense_Mutation_p.S191R	p.S550R	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	13	2280	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	550			Homo B/P.		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.1650T>A	CCDS8382.1	14	0.00641025641025641	4	0.008130081300813009	0	0.0	5	0.008741258741258742	5	0.006596306068601583	G	13.99	2.403210	0.42613	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	T;T	0.78364	-1.17;-1.17	4.68	-1.84	0.07809	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.043659	0.85682	D	0.000000	T	0.79227	0.4410	M	0.66378	2.025	0.53005	D	0.999965	D	0.69078	0.997	D	0.73380	0.98	T	0.78984	-0.1988	10	0.59425	D	0.04	-16.1089	12.2196	0.54428	0.5973:0.0:0.4027:0.0	rs471009;rs3741289	550	Q16549	PCSK7_HUMAN	R	550;191;550	ENSP00000325917:S550R;ENSP00000441944:S191R	ENSP00000325917:S550R	S	-	3	2	PCSK7	116584864	0.024000	0.19004	0.958000	0.39756	0.007000	0.05969	-0.746000	0.04829	-0.944000	0.03686	-2.386000	0.00229	AGT		0.607	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		4	69	0	0	0	1	0	4	69				
SPTA1	6708	broad.mit.edu	37	1	158585026	158585026	+	Silent	SNP	C	C	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:158585026C>G	ENST00000368147.4	-	48	6948	c.6768G>C	c.(6766-6768)ctG>ctC	p.L2256L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2256					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTGTTGCTCCAGGTTGTGTT	0.532																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6766-6768)ctG>ctC		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							135.0	142.0	140.0					1																	158585026		2129	4255	6384	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158585026C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6768G>C	1.37:g.158585026C>G						SPTA1_ENST00000368147.3_Silent_p.L2253L	p.L2256L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			48	6948	-	all_hematologic(112;0.0378)		2256					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.6768G>C	CCDS41423.1																																																																																				0.532	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		9	612	0	0	0	1	0	9	612				
TAS2R9	50835	broad.mit.edu	37	12	10961814	10961814	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:10961814G>T	ENST00000240691.2	-	1	953	c.861C>A	c.(859-861)agC>agA	p.S287R	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	287					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCCTCAACTTGCTATTTCCCA	0.383																																						ENST00000240691.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(859-861)agC>agA		taste receptor, type 2, member 9							86.0	87.0	87.0					12																	10961814		2203	4300	6503	SO:0001583	missense	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10961814G>T	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.861C>A	12.37:g.10961814G>T	ENSP00000240691:p.Ser287Arg						p.S287R	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN			1	953	-			287					Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	c.861C>A	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	G	7.508	0.653992	0.14580	.	.	ENSG00000121381	ENST00000240691	T	0.36699	1.24	4.22	-2.46	0.06461	.	0.394554	0.21608	U	0.071840	T	0.31451	0.0797	L	0.52011	1.625	0.09310	N	1	D	0.55172	0.97	P	0.53102	0.718	T	0.21381	-1.0247	10	0.26408	T	0.33	.	1.4619	0.02398	0.434:0.1424:0.2784:0.1451	.	287	Q9NYW1	TA2R9_HUMAN	R	287	ENSP00000240691:S287R	ENSP00000240691:S287R	S	-	3	2	TAS2R9	10853081	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.559000	0.02162	-0.628000	0.05582	-0.225000	0.12378	AGC		0.383	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			22	75	1	0	5.35356e-11	1	5.92715e-11	22	75				
GUCY1A3	2982	broad.mit.edu	37	4	156632326	156632326	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:156632326G>C	ENST00000296518.7	+	6	1218	c.1009G>C	c.(1009-1011)Ggg>Cgg	p.G337R	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.G337R|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.G337R|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.G337R|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.G337R|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.G337R|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.G79R			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	337					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.G337R(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GACGTTTAGCGGGATCATGAC	0.383																																						ENST00000296518.7																			1	Substitution - Missense(1)	p.G337R(1)	kidney(1)	central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1009-1011)Ggg>Cgg		guanylate cyclase 1, soluble, alpha 3							81.0	84.0	83.0					4																	156632326		2202	4299	6501	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156632326G>C		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1009G>C	4.37:g.156632326G>C	ENSP00000296518:p.Gly337Arg					GUCY1A3_ENST00000393832.3_Missense_Mutation_p.G79R|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.G337R|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.G337R|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.G337R|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.G337R|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.G337R	p.G337R			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	6	1218	+	all_hematologic(180;0.24)	Renal(120;0.0854)	337					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.1009G>C	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232757	0.39498	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.76	5.76	0.90799	Haem NO binding associated (1);	0.000000	0.64402	D	0.000004	T	0.81702	0.4878	N	0.12569	0.235	0.58432	D	0.999999	B;B;B	0.26445	0.076;0.076;0.149	B;B;B	0.37943	0.203;0.203;0.261	T	0.74993	-0.3474	10	0.15952	T	0.53	.	20.3219	0.98684	0.0:0.0:1.0:0.0	.	337;337;337	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	R	337;337;337;337;79;337;337	ENSP00000424361:G337R;ENSP00000421493:G337R;ENSP00000426968:G337R;ENSP00000412201:G337R;ENSP00000377418:G79R;ENSP00000296518:G337R;ENSP00000426040:G337R	ENSP00000296518:G337R	G	+	1	0	GUCY1A3	156851776	1.000000	0.71417	0.929000	0.37066	0.915000	0.54546	9.122000	0.94380	2.876000	0.98609	0.643000	0.83706	GGG		0.383	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			14	96	0	0	0	1	0	14	96				
EDEM2	55741	broad.mit.edu	37	20	33732798	33732798	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:33732798G>A	ENST00000374492.3	-	3	347	c.242C>T	c.(241-243)gCa>gTa	p.A81V	EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000540582.1_Missense_Mutation_p.A40V|EDEM2_ENST00000374491.3_Missense_Mutation_p.A44V	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	81					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGTGTCCAGTGCATCAATTAG	0.428																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000540582.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(118-120)gCa>gTa		ER degradation enhancer, mannosidase alpha-like 2							114.0	103.0	107.0					20																	33732798		2203	4300	6503	SO:0001583	missense	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33732798G>A	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.242C>T	20.37:g.33732798G>A	ENSP00000363616:p.Ala81Val					EDEM2_ENST00000374491.2_Missense_Mutation_p.A44V|EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000374492.3_Missense_Mutation_p.A81V	p.A40V			Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		7	840	-			81					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	37	c.119C>T	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991787	0.74703	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000540582	T;T;T	0.75367	-0.93;-0.93;-0.93	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.86707	0.5997	M	0.76938	2.355	0.80722	D	1	P;D;D	0.89917	0.946;0.999;1.0	P;D;D	0.79784	0.63;0.964;0.993	D	0.87053	0.2148	10	0.52906	T	0.07	-12.0258	19.1453	0.93463	0.0:0.0:1.0:0.0	.	40;44;81	F5GZ44;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	V	44;81;40	ENSP00000363615:A44V;ENSP00000363616:A81V;ENSP00000441548:A40V	ENSP00000363615:A44V	A	-	2	0	EDEM2	33196459	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	8.956000	0.93066	2.597000	0.87782	0.555000	0.69702	GCA		0.428	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		5	135	0	0	0	1	0	5	135				
CPT2	1376	broad.mit.edu	37	1	53675989	53675989	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:53675989T>C	ENST00000371486.3	+	4	1158	c.643T>C	c.(643-645)Tcc>Ccc	p.S215P	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	215					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CCTGGATATGTCCCAGTATTT	0.488																																						ENST00000371486.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15						c.(643-645)Tcc>Ccc		carnitine palmitoyltransferase 2	L-Carnitine(DB00583)|Perhexiline(DB01074)						111.0	105.0	107.0					1																	53675989		2203	4300	6503	SO:0001583	missense	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53675989T>C	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.643T>C	1.37:g.53675989T>C	ENSP00000360541:p.Ser215Pro						p.S215P	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN			4	1158	+			215					B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	c.643T>C	CCDS575.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.434611	0.83885	.	.	ENSG00000157184	ENST00000371486	D	0.90620	-2.7	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.96571	0.8881	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97004	0.9731	10	0.46703	T	0.11	-26.9801	15.6304	0.76904	0.0:0.0:0.0:1.0	.	215	P23786	CPT2_HUMAN	P	215	ENSP00000360541:S215P	ENSP00000360541:S215P	S	+	1	0	CPT2	53448577	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.084000	0.62774	0.528000	0.53228	TCC		0.488	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		5	287	0	0	0	1	0	5	287				
DLEC1	9940	broad.mit.edu	37	3	38138172	38138172	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:38138172G>A	ENST00000308059.6	+	15	2305	c.2284G>A	c.(2284-2286)Gcc>Acc	p.A762T	DLEC1_ENST00000452631.2_Missense_Mutation_p.A762T|DLEC1_ENST00000346219.3_Missense_Mutation_p.A762T					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGAGCCATATGCCCTCATCAT	0.512																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(2284-2286)Gcc>Acc		deleted in lung and esophageal cancer 1							152.0	148.0	149.0					3																	38138172		1960	4161	6121	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38138172G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2284G>A	3.37:g.38138172G>A	ENSP00000308597:p.Ala762Thr					DLEC1_ENST00000452631.2_Missense_Mutation_p.A762T|DLEC1_ENST00000346219.3_Missense_Mutation_p.A762T	p.A762T			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	15	2305	+			762						Missense_Mutation	SNP	ENST00000308059.6	37	c.2284G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463632	0.63513	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06294	3.34;3.32;3.56	4.93	4.06	0.47325	.	0.209855	0.39544	N	0.001340	T	0.08088	0.0202	L	0.47016	1.485	0.54753	D	0.999986	B;P;B	0.40230	0.418;0.708;0.418	B;B;B	0.39465	0.3;0.273;0.3	T	0.17561	-1.0365	10	0.48119	T	0.1	-19.4422	12.5378	0.56152	0.0835:0.0:0.9165:0.0	.	762;762;762	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	T	762	ENSP00000308597:A762T;ENSP00000315914:A762T;ENSP00000410427:A762T	ENSP00000308597:A762T	A	+	1	0	DLEC1	38113176	1.000000	0.71417	0.931000	0.37212	0.959000	0.62525	6.680000	0.74518	1.199000	0.43173	0.655000	0.94253	GCC		0.512	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		8	461	0	0	0	1	0	8	461				
PLA2G7	7941	broad.mit.edu	37	6	46672371	46672371	+	Missense_Mutation	SNP	G	G	T	rs368877374		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:46672371G>T	ENST00000274793.7	-	12	1448	c.1252C>A	c.(1252-1254)Cca>Aca	p.P418T	PLA2G7_ENST00000537365.1_Missense_Mutation_p.P418T	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	418					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TTGGTCCCTGGAATAAGATTC	0.303																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(1252-1254)Cca>Aca		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							118.0	108.0	111.0					6																	46672371		2202	4300	6502	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46672371G>T	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.1252C>A	6.37:g.46672371G>T	ENSP00000274793:p.Pro418Thr					PLA2G7_ENST00000537365.1_Missense_Mutation_p.P418T	p.P418T	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	Lung(136;0.192)		12	1448	-			418					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.1252C>A	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	G	9.008	0.981880	0.18812	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.43294	0.95;0.95	5.5	4.62	0.57501	.	0.423210	0.25833	N	0.028017	T	0.25901	0.0631	M	0.73962	2.25	0.80722	D	1	P	0.40266	0.71	B	0.32762	0.152	T	0.07443	-1.0772	10	0.30078	T	0.28	.	12.0562	0.53536	0.0806:0.0:0.9194:0.0	.	418	Q13093	PAFA_HUMAN	T	418	ENSP00000274793:P418T;ENSP00000445666:P418T	ENSP00000274793:P418T	P	-	1	0	PLA2G7	46780330	0.861000	0.29849	0.964000	0.40570	0.016000	0.09150	2.018000	0.40991	2.758000	0.94735	0.561000	0.74099	CCA		0.303	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			6	78	1	0	1.6384e-10	1	1.80749e-10	6	78				
INTS4L2	644619	broad.mit.edu	37	7	65159979	65159979	+	RNA	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:65159979A>T	ENST00000430126.2	+	0	1150							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		GTGTTTGCTTAGTTACCAGGT	0.428																																						ENST00000430126.2																			0																																																			644619							g.chr7:65159979A>T	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65159979A>T														0	1150	+									RNA	SNP	ENST00000430126.2	37																																																																																						0.428	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		3	29	0	0	0	1	0	3	29				
CLDN4	1364	broad.mit.edu	37	7	73246086	73246086	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:73246086T>G	ENST00000435050.1	+	2	3235	c.555T>G	c.(553-555)tgT>tgG	p.C185W	CLDN4_ENST00000340958.2_Missense_Mutation_p.C185W|CLDN4_ENST00000431918.1_Missense_Mutation_p.C185W			O14493	CLD4_HUMAN	claudin 4	185					calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)	p.C185W(1)		kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GCTGCAACTGTCCACCCCGCA	0.652																																						ENST00000435050.1																			1	Substitution - Missense(1)	p.C185W(1)	kidney(1)	kidney(2)|lung(4)|urinary_tract(1)	7						c.(553-555)tgT>tgG		claudin 4							53.0	54.0	54.0					7																	73246086		2203	4300	6503	SO:0001583	missense	1364				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity	g.chr7:73246086T>G	AB000712	CCDS5560.1	7q11.23	2008-07-18			ENSG00000189143	ENSG00000189143		"""Claudins"""	2046	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 1"", ""Williams-Beuren syndrome chromosomal region 8 protein"""	602909		CPETR, CPETR1		9334247, 9892664	Standard	NM_001305		Approved	CPE-R, WBSCR8, hCPE-R	uc003tzi.4	O14493	OTTHUMG00000023425	ENST00000435050.1:c.555T>G	7.37:g.73246086T>G	ENSP00000409544:p.Cys185Trp					CLDN4_ENST00000340958.2_Missense_Mutation_p.C185W|CLDN4_ENST00000431918.1_Missense_Mutation_p.C185W	p.C185W			O14493	CLD4_HUMAN			2	3235	+		Lung NSC(55;0.159)	185						Missense_Mutation	SNP	ENST00000435050.1	37	c.555T>G	CCDS5560.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.102065	0.76983	.	.	ENSG00000189143	ENST00000435050;ENST00000431918;ENST00000340958;ENST00000543176	D;D;D	0.86562	-2.14;-2.14;-2.14	5.28	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.94994	0.8380	H	0.96996	3.92	0.80722	D	1	D	0.69078	0.997	D	0.64687	0.928	D	0.95674	0.8726	10	0.87932	D	0	.	12.0232	0.53354	0.0:0.9149:0.0:0.0851	.	185	O14493	CLD4_HUMAN	W	185;185;185;172	ENSP00000409544:C185W;ENSP00000388639:C185W;ENSP00000342445:C185W	ENSP00000342445:C185W	C	+	3	2	CLDN4	72884022	1.000000	0.71417	0.974000	0.42286	0.880000	0.50808	3.301000	0.51842	1.220000	0.43490	-0.251000	0.11542	TGT		0.652	CLDN4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348030.1	NM_001305		30	25	0	0	0	1	0	30	25				
COLEC12	81035	broad.mit.edu	37	18	347010	347010	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:347010C>G	ENST00000400256.3	-	5	819	c.612G>C	c.(610-612)atG>atC	p.M204I		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	204					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TGTTGAGGTTCATGATGACCA	0.502																																						ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(610-612)atG>atC		collectin sub-family member 12							133.0	132.0	132.0					18																	347010		2203	4300	6503	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:347010C>G	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.612G>C	18.37:g.347010C>G	ENSP00000383115:p.Met204Ile						p.M204I	NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN			5	819	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	204					Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.612G>C	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318725	0.23994	.	.	ENSG00000158270	ENST00000400256	T	0.39997	1.05	6.08	6.08	0.98989	.	0.120352	0.85682	D	0.000000	T	0.32224	0.0822	N	0.24115	0.695	0.48341	D	0.999631	P	0.35383	0.498	B	0.30401	0.115	T	0.04053	-1.0981	10	0.27785	T	0.31	-27.0898	20.6634	0.99662	0.0:1.0:0.0:0.0	.	204	Q5KU26	COL12_HUMAN	I	204	ENSP00000383115:M204I	ENSP00000383115:M204I	M	-	3	0	COLEC12	337010	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.998000	0.57024	2.894000	0.99253	0.655000	0.94253	ATG		0.502	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			56	1438	0	0	0	1	0	56	1438				
ANLN	54443	broad.mit.edu	37	7	36450762	36450762	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:36450762T>A	ENST00000265748.2	+	7	1603	c.1382T>A	c.(1381-1383)cTa>cAa	p.L461Q	ANLN_ENST00000495714.1_3'UTR|ANLN_ENST00000396068.2_Missense_Mutation_p.L461Q	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	461	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGCAAACAACTAGAAACCAAA	0.363																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(1381-1383)cTa>cAa		anillin, actin binding protein							87.0	79.0	82.0					7																	36450762		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36450762T>A	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1382T>A	7.37:g.36450762T>A	ENSP00000265748:p.Leu461Gln					ANLN_ENST00000495714.1_3'UTR|ANLN_ENST00000396068.2_Missense_Mutation_p.L461Q	p.L461Q	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			7	1603	+			461			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.1382T>A	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	T	11.60	1.688378	0.29962	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.12361	2.7;2.69	5.15	-9.11	0.00711	.	0.969776	0.08483	N	0.939223	T	0.10337	0.0253	L	0.60455	1.87	0.09310	N	0.999997	B;B;B;B	0.14805	0.011;0.005;0.008;0.005	B;B;B;B	0.12837	0.003;0.004;0.008;0.004	T	0.33266	-0.9875	10	0.13853	T	0.58	0.4436	9.6519	0.39904	0.2106:0.6454:0.0:0.144	.	338;461;461;461	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	Q	461	ENSP00000265748:L461Q;ENSP00000379380:L461Q	ENSP00000265748:L461Q	L	+	2	0	ANLN	36417287	0.003000	0.15002	0.001000	0.08648	0.856000	0.48823	-0.284000	0.08422	-1.848000	0.01172	-1.151000	0.01829	CTA		0.363	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		4	59	0	0	0	1	0	4	59				
KIF21A	55605	broad.mit.edu	37	12	39757017	39757017	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:39757017T>A	ENST00000361418.5	-	7	919		c.e7-2		KIF21A_ENST00000395670.3_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGTGCCAACTAAAAGAAAGA	0.333																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.e7-2		kinesin family member 21A							95.0	93.0	94.0					12																	39757017		2203	4300	6503	SO:0001630	splice_region_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39757017T>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.904-2A>T	12.37:g.39757017T>A						KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site				Q7Z4S6	KI21A_HUMAN			7	1323	-		Lung NSC(34;0.179)|all_lung(34;0.213)						A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Splice_Site	SNP	ENST00000361418.5	37		CCDS53776.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306185	0.60305	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7019	0.69162	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF21A	38043284	1.000000	0.71417	0.991000	0.47740	0.633000	0.38033	3.341000	0.52151	1.880000	0.54463	0.460000	0.39030	.		0.333	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	Intron	4	72	0	0	0	1	0	4	72				
KIAA1217	56243	broad.mit.edu	37	10	24820837	24820837	+	Missense_Mutation	SNP	G	G	T	rs139217308		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:24820837G>T	ENST00000376454.3	+	15	3191	c.3161G>T	c.(3160-3162)cGa>cTa	p.R1054L	KIAA1217_ENST00000376451.2_Missense_Mutation_p.R737L|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R737L|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R737L|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R1018L|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R974L|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R737L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R1019L	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1054					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCTCCTCGTCGAAGCTACCTG	0.557																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2209-2211)cGa>cTa		KIAA1217							53.0	46.0	49.0					10																	24820837		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24820837G>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3161G>T	10.37:g.24820837G>T	ENSP00000365637:p.Arg1054Leu					KIAA1217_ENST00000307544.6_Missense_Mutation_p.R737L|KIAA1217_ENST00000376454.3_Missense_Mutation_p.R1054L|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R1018L|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R737L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R1019L|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R974L|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R737L	p.R737L			Q5T5P2	SKT_HUMAN			10	2470	+			1054					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.2210G>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121999	0.94429	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16	5.48	5.48	0.80851	.	0.128540	0.51477	D	0.000091	T	0.78310	0.4263	M	0.77313	2.365	0.52099	D	0.999941	D;P;D;D;D;D;D;D	0.89917	1.0;0.899;1.0;0.994;1.0;1.0;0.999;0.999	D;P;D;D;D;D;D;D	0.91635	0.999;0.545;0.999;0.973;0.999;0.999;0.996;0.969	T	0.80089	-0.1528	10	0.87932	D	0	.	19.7157	0.96119	0.0:0.0:1.0:0.0	.	1019;1018;737;737;737;737;1054;1054	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	L	974;1019;737;1054;1018;737;737;737;737;737	ENSP00000365645:R974L;ENSP00000392625:R1019L;ENSP00000365637:R1054L;ENSP00000365635:R1018L;ENSP00000302343:R737L;ENSP00000379722:R737L;ENSP00000365634:R737L;ENSP00000379723:R737L	ENSP00000302343:R737L	R	+	2	0	KIAA1217	24860843	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.880000	0.75578	2.749000	0.94314	0.655000	0.94253	CGA		0.557	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		47	160	1	0	1.81118e-26	1	2.08724e-26	47	160				
NNT	23530	broad.mit.edu	37	5	43677827	43677827	+	Splice_Site	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:43677827G>A	ENST00000264663.5	+	19	3016	c.2795G>A	c.(2794-2796)gGc>gAc	p.G932D	NNT_ENST00000512996.2_Splice_Site_p.G801D|NNT_ENST00000344920.4_Splice_Site_p.G932D	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	932					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.G932D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TTCCTTGCAGGCTATGGTCTC	0.398																																						ENST00000264663.5																			1	Substitution - Missense(1)	p.G932D(1)	kidney(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.e19-1		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						148.0	142.0	144.0					5																	43677827		2203	4300	6503	SO:0001630	splice_region_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43677827G>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2795-1G>A	5.37:g.43677827G>A						NNT_ENST00000512996.2_Splice_Site_p.G801_splice|NNT_ENST00000344920.4_Splice_Site_p.G932_splice	p.G932_splice	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			19	3016	+	Lung NSC(6;2.58e-06)		932					Q16796|Q2TB60|Q8N3V4	Splice_Site	SNP	ENST00000264663.5	37	c.2794_splice	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598161	0.87055	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.97016	-4.21;-4.21;-4.21	5.19	5.19	0.71726	.	0.044361	0.85682	D	0.000000	D	0.98982	0.9653	H	0.98238	4.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99289	1.0898	9	.	.	.	.	19.1306	0.93404	0.0:0.0:1.0:0.0	.	932	Q13423	NNTM_HUMAN	D	447;932;932;801	ENSP00000264663:G932D;ENSP00000343873:G932D;ENSP00000426343:G801D	.	G	+	2	0	NNT	43713584	1.000000	0.71417	0.879000	0.34478	0.857000	0.48899	9.270000	0.95690	2.584000	0.87258	0.558000	0.71614	GGC		0.398	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977	Missense_Mutation	28	121	0	0	0	1	0	28	121				
GPRASP2	114928	broad.mit.edu	37	X	101971877	101971877	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:101971877C>G	ENST00000535209.1	+	4	2911	c.2080C>G	c.(2080-2082)Ctt>Gtt	p.L694V	GPRASP2_ENST00000543253.1_Missense_Mutation_p.L694V|GPRASP2_ENST00000332262.5_Missense_Mutation_p.L694V			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	694						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TGTGGATTCCCTTGAGCAGCT	0.408																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(2080-2082)Ctt>Gtt		G protein-coupled receptor associated sorting protein 2							121.0	105.0	110.0					X																	101971877		2203	4300	6503	SO:0001583	missense	114928							g.chrX:101971877C>G	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.2080C>G	X.37:g.101971877C>G	ENSP00000437394:p.Leu694Val					GPRASP2_ENST00000332262.5_Missense_Mutation_p.L694V|GPRASP2_ENST00000535209.1_Missense_Mutation_p.L694V	p.L694V	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	2999	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.2080C>G	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332508	0.24167	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.29142	1.58;1.58;1.58	4.31	4.31	0.51392	Armadillo-like helical (1);Armadillo-type fold (1);	0.340546	0.21563	N	0.072537	T	0.17916	0.0430	N	0.08118	0	0.21579	N	0.999632	B	0.27625	0.183	B	0.33846	0.171	T	0.19063	-1.0317	10	0.30854	T	0.27	.	11.1272	0.48325	0.0:1.0:0.0:0.0	.	694	Q96D09	GASP2_HUMAN	V	694	ENSP00000437872:L694V;ENSP00000437394:L694V;ENSP00000339057:L694V	ENSP00000339057:L694V	L	+	1	0	GPRASP2	101858533	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	0.926000	0.28804	2.394000	0.81467	0.513000	0.50165	CTT		0.408	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		93	46	0	0	0	1	0	93	46				
MLLT10	8028	broad.mit.edu	37	10	21962615	21962615	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:21962615T>A	ENST00000307729.7	+	11	1566	c.1388T>A	c.(1387-1389)gTa>gAa	p.V463E	MLLT10_ENST00000377059.3_Missense_Mutation_p.V463E|MLLT10_ENST00000377072.3_Missense_Mutation_p.V463E|MLLT10_ENST00000446906.2_Missense_Mutation_p.V463E			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	463	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V463E(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGAAACTGTAAAGGAAAAG	0.398			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		2	Substitution - Missense(2)	p.V463E(2)	prostate(2)	NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1387-1389)gTa>gAa		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							102.0	112.0	108.0					10																	21962615		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21962615T>A	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1388T>A	10.37:g.21962615T>A	ENSP00000307411:p.Val463Glu					MLLT10_ENST00000446906.2_Missense_Mutation_p.V463E|MLLT10_ENST00000307729.7_Missense_Mutation_p.V463E|MLLT10_ENST00000377059.3_Missense_Mutation_p.V463E	p.V463E	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			11	1736	+			463			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.1388T>A	CCDS55708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.5|21.5	4.158125|4.158125	0.78114|0.78114	.|.	.|.	ENSG00000078403|ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639|ENST00000420525	T;T;T;T|.	0.17213|.	2.29;2.3;2.29;2.3|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.124593|.	0.53938|.	D|.	0.000047|.	T|.	0.63977|.	0.2557|.	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.62365|.	0.978;0.988;0.91;0.991|.	P;P;P;P|.	0.57620|.	0.732;0.771;0.502;0.824|.	T|.	0.61850|.	-0.6978|.	10|.	0.56958|.	D|.	0.05|.	.|.	15.3441|15.3441	0.74320|0.74320	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	309;463;463;463|.	F5H541;E9PBP4;Q5VX90;P55197|.	.;.;.;AF10_HUMAN|.	E|K	463;463;463;309;463;106;105|37	ENSP00000366272:V463E;ENSP00000401406:V463E;ENSP00000307411:V463E;ENSP00000366258:V463E|.	ENSP00000307411:V463E|.	V|X	+|+	2|1	0|0	MLLT10|MLLT10	22002621|22002621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.181000|6.181000	0.71988|0.71988	2.046000|2.046000	0.60703|0.60703	0.477000|0.477000	0.44152|0.44152	GTA|TAA		0.398	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			6	273	0	0	0	1	0	6	273				
PLCB2	5330	broad.mit.edu	37	15	40588990	40588990	+	Silent	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:40588990A>G	ENST00000260402.3	-	14	1692	c.1443T>C	c.(1441-1443)gcT>gcC	p.A481A	PLCB2_ENST00000557821.1_Silent_p.A481A|PLCB2_ENST00000456256.2_Silent_p.A481A	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	481					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		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;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGCTGCCCTCAGCCTCCCCAC	0.602																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(1441-1443)gcT>gcC		phospholipase C, beta 2							53.0	53.0	53.0					15																	40588990		1921	4130	6051	SO:0001819	synonymous_variant	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40588990A>G		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1443T>C	15.37:g.40588990A>G						PLCB2_ENST00000557821.1_Silent_p.A481A|PLCB2_ENST00000456256.2_Silent_p.A481A	p.A481A	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	14	1692	-		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)	481					A8K6J2|B9EGH5	Silent	SNP	ENST00000260402.3	37	c.1443T>C	CCDS42020.1																																																																																				0.602	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			5	148	0	0	0	1	0	5	148				
HP	3240	broad.mit.edu	37	16	72094757	72094757	+	Missense_Mutation	SNP	G	G	C	rs189115161	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:72094757G>C	ENST00000355906.5	+	7	1247	c.1189G>C	c.(1189-1191)Gac>Cac	p.D397H	HP_ENST00000565574.1_Missense_Mutation_p.D338H|HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_3'UTR|HP_ENST00000357763.4_Missense_Mutation_p.D433H|HP_ENST00000398131.2_Missense_Mutation_p.D338H|HPR_ENST00000561690.1_5'Flank|HP_ENST00000570083.1_Missense_Mutation_p.D338H|HPR_ENST00000540303.2_5'Flank	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	397	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		D -> H (in dbSNP:rs12646).		acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TTCCATCCAGGACTGGGTTCA	0.527													G|||	5	0.000998403	0.0015	0.0	5008	,	,		24755	0.003		0.0	False		,,,				2504	0.0					ENST00000355906.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7						c.(1189-1191)Gac>Cac		haptoglobin																																				SO:0001583	missense	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72094757G>C		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.1189G>C	16.37:g.72094757G>C	ENSP00000348170:p.Asp397His					HP_ENST00000398131.2_Missense_Mutation_p.D338H|HPR_ENST00000356967.5_Intron|HP_ENST00000570083.1_Missense_Mutation_p.D338H|HP_ENST00000565574.1_Missense_Mutation_p.D338H|HP_ENST00000562526.1_3'UTR	p.D397H	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	7	1247	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	397		D -> H (in dbSNP:rs12646).	Peptidase S1.		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Missense_Mutation	SNP	ENST00000355906.5	37	c.1189G>C	CCDS45524.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	8.419	0.845921	0.16963	.	.	ENSG00000257017	ENST00000355906;ENST00000398131;ENST00000405951;ENST00000357763	D;D	0.94613	-3.47;-3.47	5.21	5.21	0.72293	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.276344	0.36815	N	0.002383	D	0.93621	0.7963	L	0.60067	1.865	0.80722	D	1	B;B;B;B	0.20368	0.006;0.042;0.022;0.044	B;B;B;B	0.28139	0.023;0.038;0.023;0.086	D	0.91242	0.5022	10	0.72032	D	0.01	.	17.5791	0.87960	0.0:0.0:1.0:0.0	.	219;272;338;397	Q6PEJ8;Q6NSB4;Q0VAC5;P00738	.;.;.;HPT_HUMAN	H	397;338;272;373	ENSP00000348170:D397H;ENSP00000381199:D338H	ENSP00000348170:D397H	D	+	1	0	HP	70652258	1.000000	0.71417	0.996000	0.52242	0.443000	0.32047	4.200000	0.58433	2.713000	0.92767	0.650000	0.86243	GAC		0.527	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	NM_005143		10	1016	0	0	0	1	0	10	1016				
ANP32A	8125	broad.mit.edu	37	15	69113057	69113057	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:69113057G>A	ENST00000465139.2	-	1	177	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	ANP32A_ENST00000560303.1_Missense_Mutation_p.R12W|SPESP1_ENST00000560188.1_Intron	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	12					gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						GTCCTGTTCCGCAGCTCTAAA	0.557																																						ENST00000465139.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(34-36)Cgg>Tgg		acidic (leucine-rich) nuclear phosphoprotein 32 family, member A							67.0	74.0	72.0					15																	69113057		2114	4244	6358	SO:0001583	missense	8125				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding	g.chr15:69113057G>A	AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"""ANP32 acidic nuclear phosphoproteins"""	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.34C>T	15.37:g.69113057G>A	ENSP00000417864:p.Arg12Trp					ANP32A_ENST00000560303.1_Missense_Mutation_p.R12W|SPESP1_ENST00000560188.1_Intron	p.R12W	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN			1	177	-			12					B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Missense_Mutation	SNP	ENST00000465139.2	37	c.34C>T	CCDS45292.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665919	0.47677	.	.	ENSG00000140350	ENST00000358235;ENST00000465139	T	0.00376	7.7	4.34	4.34	0.51931	.	0.294018	0.32430	N	0.006109	T	0.00356	0.0011	M	0.79926	2.475	0.80722	D	1	P	0.39131	0.661	B	0.18263	0.021	T	0.74861	-0.3520	10	0.72032	D	0.01	.	14.1482	0.65364	0.0:0.0:1.0:0.0	.	12	P39687	AN32A_HUMAN	W	12	ENSP00000417864:R12W	ENSP00000350970:R12W	R	-	1	2	ANP32A	66900111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.117000	0.57877	2.252000	0.74401	0.561000	0.74099	CGG		0.557	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335525.2			3	138	0	0	0	1	0	3	138				
EAPP	55837	broad.mit.edu	37	14	34994015	34994015	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:34994015T>A	ENST00000250454.3	-	5	552		c.e5-2			NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein						negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		CCATGGTAACTAGAACAGAAG	0.403																																						ENST00000250454.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12						c.e5-2		E2F-associated phosphoprotein							118.0	108.0	111.0					14																	34994015		1919	4138	6057	SO:0001630	splice_region_variant	55837				negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		g.chr14:34994015T>A	AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.471-2A>T	14.37:g.34994015T>A								NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	5	552	-	Breast(36;0.0473)|Hepatocellular(127;0.158)							Q9BVF4|Q9NWV5|Q9NZ86	Splice_Site	SNP	ENST00000250454.3	37		CCDS41941.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.480316	0.63849	.	.	ENSG00000129518	ENST00000250454;ENST00000554792	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9833	0.41826	0.0:0.0759:0.0:0.9241	.	.	.	.	.	-1	.	.	.	-	.	.	EAPP	34063766	0.995000	0.38212	0.968000	0.41197	0.927000	0.56198	3.863000	0.56016	2.141000	0.66446	0.459000	0.35465	.		0.403	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453	Intron	5	181	0	0	0	1	0	5	181				
PARVA	55742	broad.mit.edu	37	11	12499426	12499426	+	Silent	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:12499426T>C	ENST00000550549.1	+	4	379	c.330T>C	c.(328-330)gtT>gtC	p.V110V	PARVA_ENST00000526746.1_3'UTR|PARVA_ENST00000334956.8_Silent_p.V150V|PARVA_ENST00000538608.1_Silent_p.V57V|PARVA_ENST00000539723.1_Silent_p.V110V			Q9NVD7	PARVA_HUMAN	parvin, alpha	110	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|actin-mediated cell contraction (GO:0070252)|cell junction assembly (GO:0034329)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|heterotypic cell-cell adhesion (GO:0034113)|outflow tract septum morphogenesis (GO:0003148)|regulation of cell shape (GO:0008360)|smooth muscle cell chemotaxis (GO:0071670)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		ATGTGTTGGTTGGAGAAAGAA	0.398																																						ENST00000334956.8																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11						c.(448-450)gtT>gtC		parvin, alpha							193.0	182.0	185.0					11																	12499426		1860	4103	5963	SO:0001819	synonymous_variant	55742				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding	g.chr11:12499426T>C	AF237771	CCDS44541.1, CCDS44541.2	11p15.3	2014-06-13	2005-05-26		ENSG00000197702	ENSG00000197702		"""Parvins"""	14652	protein-coding gene	gene with protein product		608120	"""matrix-remodelling associated 2"""	MXRA2		11171322	Standard	NM_018222		Approved	FLJ12254, FLJ10793	uc001mki.4	Q9NVD7	OTTHUMG00000165778	ENST00000550549.1:c.330T>C	11.37:g.12499426T>C						PARVA_ENST00000550549.1_Silent_p.V110V|PARVA_ENST00000526746.1_3'UTR|PARVA_ENST00000538608.1_Silent_p.V57V|PARVA_ENST00000539723.1_Silent_p.V110V	p.V150V	NM_018222.4	NP_060692.2	Q9NVD7	PARVA_HUMAN		Epithelial(150;0.00624)	4	793	+			110			CH 1.		Q96C85|Q9HA48	Silent	SNP	ENST00000550549.1	37	c.450T>C																																																																																					0.398	PARVA-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018222		3	190	0	0	0	1	0	3	190				
UTRN	7402	broad.mit.edu	37	6	145119110	145119110	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:145119110C>T	ENST00000367545.3	+	63	9229	c.9229C>T	c.(9229-9231)Cca>Tca	p.P3077S	UTRN_ENST00000367526.4_Missense_Mutation_p.P632S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3077	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TAAAGAATGTCCAATTGTCGG	0.483																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(9229-9231)Cca>Tca		utrophin							126.0	130.0	129.0					6																	145119110		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145119110C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9229C>T	6.37:g.145119110C>T	ENSP00000356515:p.Pro3077Ser					UTRN_ENST00000367526.4_Missense_Mutation_p.P632S	p.P3077S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	63	9229	+		Ovarian(120;0.218)	3077			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.9229C>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256165	0.80246	.	.	ENSG00000152818	ENST00000367545;ENST00000367526;ENST00000545166;ENST00000432686;ENST00000417142	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	5.67	5.67	0.87782	Zinc finger, ZZ-type (4);	0.000000	0.52532	D	0.000071	D	0.94935	0.8362	M	0.86028	2.79	0.58432	D	0.999999	D	0.71674	0.998	D	0.83275	0.996	D	0.95016	0.8156	10	0.87932	D	0	.	19.7824	0.96422	0.0:1.0:0.0:0.0	.	3077	P46939	UTRO_HUMAN	S	3077;632;36;36;36	ENSP00000356515:P3077S;ENSP00000356496:P632S;ENSP00000398923:P36S;ENSP00000404205:P36S	ENSP00000356496:P632S	P	+	1	0	UTRN	145160803	1.000000	0.71417	0.966000	0.40874	0.618000	0.37518	7.794000	0.85869	2.677000	0.91161	0.561000	0.74099	CCA		0.483	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			6	238	0	0	0	1	0	6	238				
ANKS6	203286	broad.mit.edu	37	9	101540537	101540537	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:101540537G>T	ENST00000353234.4	-	7	1585	c.1538C>A	c.(1537-1539)cCt>cAt	p.P513H	ANKS6_ENST00000375019.2_Missense_Mutation_p.P212H|ANKS6_ENST00000540940.1_Missense_Mutation_p.P318H|ANKS6_ENST00000375018.1_Missense_Mutation_p.P513H			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	513						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGCCGCATCAGGGAGTGCAGA	0.552																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(1537-1539)cCt>cAt		ankyrin repeat and sterile alpha motif domain containing 6							42.0	47.0	46.0					9																	101540537		1970	4153	6123	SO:0001583	missense	203286							g.chr9:101540537G>T	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1538C>A	9.37:g.101540537G>T	ENSP00000297837:p.Pro513His					ANKS6_ENST00000375018.1_Missense_Mutation_p.P513H|ANKS6_ENST00000375019.2_Missense_Mutation_p.P212H|ANKS6_ENST00000540940.1_Missense_Mutation_p.P318H	p.P513H			Q68DC2	ANKS6_HUMAN			7	1585	-		Acute lymphoblastic leukemia(62;0.0527)	513					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.1538C>A	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735849	0.30774	.	.	ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	T;T;T;T	0.69306	1.78;-0.39;-0.39;2.02	5.66	2.8	0.32819	.	0.355177	0.33180	N	0.005194	T	0.48607	0.1509	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.43294	-0.9400	10	0.62326	D	0.03	-2.4062	6.0679	0.19873	0.1628:0.0:0.6746:0.1627	.	513;513	Q68DC2-4;Q68DC2	.;ANKS6_HUMAN	H	212;513;513;318	ENSP00000364159:P212H;ENSP00000364158:P513H;ENSP00000297837:P513H;ENSP00000442189:P318H	ENSP00000297837:P513H	P	-	2	0	ANKS6	100580358	0.660000	0.27420	0.030000	0.17652	0.021000	0.10359	2.486000	0.45259	0.717000	0.32145	0.655000	0.94253	CCT		0.552	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		12	125	1	0	2.35188e-11	1	2.6226e-11	12	125				
NLGN1	22871	broad.mit.edu	37	3	173998409	173998409	+	Silent	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:173998409A>G	ENST00000457714.1	+	7	2217	c.1788A>G	c.(1786-1788)gaA>gaG	p.E596E	NLGN1_ENST00000545397.1_Silent_p.E596E|NLGN1_ENST00000401917.3_Silent_p.E636E|NLGN1_ENST00000361589.4_Silent_p.E596E	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	613					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GAGTTAAAGAACATTACAGAG	0.388																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(1786-1788)gaA>gaG		neuroligin 1							113.0	111.0	112.0					3																	173998409		2203	4300	6503	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998409A>G	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1788A>G	3.37:g.173998409A>G						NLGN1_ENST00000361589.4_Silent_p.E596E|NLGN1_ENST00000401917.3_Silent_p.E636E|NLGN1_ENST00000545397.1_Silent_p.E596E	p.E596E	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2217	+	Ovarian(172;0.0025)		613					Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.1788A>G	CCDS3222.1																																																																																				0.388	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		3	140	0	0	0	1	0	3	140				
FNDC3A	22862	broad.mit.edu	37	13	49781232	49781232	+	Missense_Mutation	SNP	G	G	A	rs142361918	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr13:49781232G>A	ENST00000492622.2	+	26	3603	c.3298G>A	c.(3298-3300)Gac>Aac	p.D1100N	FNDC3A_ENST00000541916.1_Missense_Mutation_p.D1100N|FNDC3A_ENST00000398316.3_Missense_Mutation_p.D1044N	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1100	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CAAGGGTCCCGACTCTTCCTT	0.438													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19519	0.0		0.0	False		,,,				2504	0.0					ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(3298-3300)Gac>Aac		fibronectin type III domain containing 3A		G	ASN/ASP,ASN/ASP	10,4396	16.8+/-37.8	0,10,2193	75.0	75.0	75.0		3298,3130	3.5	0.1	13	dbSNP_134	75	0,8600		0,0,4300	yes	missense,missense	FNDC3A	NM_001079673.1,NM_014923.3	23,23	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	benign,benign	1100/1199,1044/1143	49781232	10,12996	2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49781232G>A	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3298G>A	13.37:g.49781232G>A	ENSP00000417257:p.Asp1100Asn					FNDC3A_ENST00000541916.1_Missense_Mutation_p.D1100N|FNDC3A_ENST00000398316.3_Missense_Mutation_p.D1044N	p.D1100N	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	26	3603	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	1100			Fibronectin type-III 9.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.3298G>A	CCDS41886.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	1.261	-0.615789	0.03663	0.00227	0.0	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.35605	1.31;1.31;1.3	5.23	3.51	0.40186	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.380675	0.24422	N	0.038661	T	0.23886	0.0578	L	0.35487	1.065	0.09310	N	0.999999	B;B	0.16166	0.016;0.009	B;B	0.15870	0.014;0.002	T	0.20538	-1.0272	10	0.18276	T	0.48	-4.6725	8.3463	0.32275	0.2376:0.0:0.7624:0.0	.	1044;1100	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	N	1100;1036;1100;1044	ENSP00000417257:D1100N;ENSP00000441831:D1100N;ENSP00000381362:D1044N	ENSP00000338579:D1036N	D	+	1	0	FNDC3A	48679233	1.000000	0.71417	0.066000	0.19879	0.010000	0.07245	4.351000	0.59398	0.596000	0.29794	-0.781000	0.03364	GAC		0.438	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		5	161	0	0	0	1	0	5	161				
FCGR2A	2212	broad.mit.edu	37	1	161479818	161479818	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:161479818A>G	ENST00000271450.6	+	4	611	c.573A>G	c.(571-573)atA>atG	p.I191M	FCGR2A_ENST00000367972.4_Missense_Mutation_p.I190M	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	191	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		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)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGAAACATAGGCTACACGC	0.512																																						ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(571-573)atA>atG		Fc fragment of IgG, low affinity IIa, receptor (CD32)	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)						120.0	103.0	108.0					1																	161479818		2203	4300	6503	SO:0001583	missense	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161479818A>G	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.573A>G	1.37:g.161479818A>G	ENSP00000271450:p.Ile191Met					FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Missense_Mutation_p.I190M	p.I191M	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	611	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		191			Ig-like C2-type 2.		Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	c.573A>G	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	.	8.803	0.933456	0.18206	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.12361	2.69;2.69	2.65	1.46	0.22682	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.269835	0.32244	N	0.006370	T	0.10252	0.0251	L	0.57536	1.79	0.29926	N	0.822338	B;P	0.50066	0.415;0.931	B;P	0.54629	0.383;0.757	T	0.05500	-1.0881	9	0.44086	T	0.13	.	5.6409	0.17562	0.7156:0.2844:0.0:0.0	.	191;190	P12318;P12318-2	FCG2A_HUMAN;.	M	190;191	ENSP00000356949:I190M;ENSP00000271450:I191M	ENSP00000271450:I191M	I	+	3	3	FCGR2A	159746442	0.297000	0.24408	0.176000	0.23000	0.009000	0.06853	-0.037000	0.12164	0.399000	0.25367	0.454000	0.30748	ATA		0.512	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		6	464	0	0	0	1	0	6	464				
SLC35G3	146861	broad.mit.edu	37	17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C	rs375936006		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	312	EamA 2.					integral component of membrane (GO:0016021)		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.A312G(4)	kidney(4)								c.(934-936)gCg>gGg		solute carrier family 35, member G3							142.0	127.0	132.0					17																	33520392		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520392G>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.935C>G	17.37:g.33520392G>C	ENSP00000297307:p.Ala312Gly						p.A312G	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1020	-			312			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.935C>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.804722	0.00611	.	.	ENSG00000164729	ENST00000297307	T	0.57273	0.41	.	.	.	.	0.000000	0.45126	N	0.000398	T	0.11067	0.0270	N	0.01048	-1.04	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	8	0.02654	T	1	-1.3046	.	.	.	.	312	Q8N808	S35G3_HUMAN	G	312	ENSP00000297307:A312G	ENSP00000297307:A312G	A	-	2	0	SLC35G3	30544505	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	1.924000	0.40065	-2.418000	0.00566	-2.366000	0.00237	GCG		0.567	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		5	141	0	0	0	1	0	5	141				
CCDC62	84660	broad.mit.edu	37	12	123297817	123297817	+	Splice_Site	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:123297817G>A	ENST00000253079.6	+	11	2196	c.1852G>A	c.(1852-1854)Gct>Act	p.A618T	CCDC62_ENST00000537566.1_Splice_Site_p.A379T|CCDC62_ENST00000392441.4_Splice_Site_p.A618T|CCDC62_ENST00000392440.2_Splice_Site_p.A379T	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	618					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TTTCCTGTAGGCTTCAATTGT	0.453																																						ENST00000253079.6																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.e11-1		coiled-coil domain containing 62							113.0	108.0	110.0					12																	123297817		2203	4300	6503	SO:0001630	splice_region_variant	84660					cytoplasm|nucleus		g.chr12:123297817G>A		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1852-1G>A	12.37:g.123297817G>A						CCDC62_ENST00000392441.4_Splice_Site_p.A618_splice|CCDC62_ENST00000392440.2_Splice_Site_p.A379_splice|CCDC62_ENST00000537566.1_Splice_Site_p.A379_splice	p.A618_splice	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	11	2196	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		618					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Splice_Site	SNP	ENST00000253079.6	37	c.1851_splice	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761624	0.31228	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.43688	1.55;1.55;0.94;0.94	4.79	0.85	0.18980	.	0.913478	0.09002	N	0.862818	T	0.26738	0.0654	L	0.29908	0.895	0.09310	N	1	B;B;B	0.16396	0.0;0.017;0.001	B;B;B	0.14578	0.003;0.011;0.003	T	0.25710	-1.0124	9	.	.	.	1.7886	4.5077	0.11896	0.2783:0.1627:0.559:0.0	.	618;379;618	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	T	618;618;379;379	ENSP00000253079:A618T;ENSP00000376236:A618T;ENSP00000445045:A379T;ENSP00000376235:A379T	.	A	+	1	0	CCDC62	121863770	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.209000	0.17435	-0.051000	0.13334	0.650000	0.86243	GCT		0.453	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573	Missense_Mutation	10	157	0	0	0	1	0	10	157				
ROBO3	64221	broad.mit.edu	37	11	124740168	124740168	+	Missense_Mutation	SNP	C	C	T	rs376257514		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:124740168C>T	ENST00000397801.1	+	5	1066	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	ROBO3_ENST00000538940.1_Missense_Mutation_p.R270C	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	292	Ig-like C2-type 3.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TCTACGCTGGCGCAAGGAGGA	0.577																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(874-876)Cgc>Tgc		roundabout, axon guidance receptor, homolog 3 (Drosophila)		C	CYS/ARG	1,3927		0,1,1963	53.0	54.0	54.0		874	4.9	1.0	11		54	1,8281		0,1,4140	no	missense	ROBO3	NM_022370.3	180	0,2,6103	TT,TC,CC		0.0121,0.0255,0.0164	probably-damaging	292/1387	124740168	2,12208	1964	4141	6105	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124740168C>T	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.874C>T	11.37:g.124740168C>T	ENSP00000380903:p.Arg292Cys					ROBO3_ENST00000538940.1_Missense_Mutation_p.R270C	p.R292C	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	5	1066	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	292			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000397801.1	37	c.874C>T	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789087	0.70337	2.55E-4	1.21E-4	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.30981	1.51;1.51	4.92	4.92	0.64577	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37304	N	0.002149	T	0.54663	0.1872	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.57441	-0.7811	10	0.66056	D	0.02	.	18.0733	0.89419	0.0:1.0:0.0:0.0	.	292	Q96MS0	ROBO3_HUMAN	C	292;270	ENSP00000380903:R292C;ENSP00000441797:R270C	ENSP00000380903:R292C	R	+	1	0	ROBO3	124245378	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	2.323000	0.43823	2.447000	0.82792	0.462000	0.41574	CGC		0.577	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		3	95	0	0	0	1	0	3	95				
RNF213	57674	broad.mit.edu	37	17	78247137	78247137	+	Silent	SNP	G	G	A	rs370520790		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:78247137G>A	ENST00000582970.1	+	3	338	c.195G>A	c.(193-195)ccG>ccA	p.P65P	RNF213_ENST00000508628.2_Silent_p.P65P|RNF213_ENST00000319921.4_Silent_p.P65P|RNF213_ENST00000456466.1_Silent_p.P65P	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	65					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCTTGTTCCCGGGCTCAGACA	0.612																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(193-195)ccG>ccA		ring finger protein 213		G	,	1,4403	2.1+/-5.4	0,1,2201	74.0	72.0	73.0		195,195	-1.6	0.0	17		73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RNF213	NM_020914.4,NM_020954.2	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	65/5257,65/1064	78247137	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	57674							g.chr17:78247137G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.195G>A	17.37:g.78247137G>A						RNF213_ENST00000456466.1_Silent_p.P65P|RNF213_ENST00000319921.4_Silent_p.P65P|RNF213_ENST00000508628.2_Silent_p.P65P	p.P65P	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		3	338	+	all_neural(118;0.0538)		65					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.195G>A	CCDS58606.1																																																																																				0.612	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		5	212	0	0	0	1	0	5	212				
BAZ2B	29994	broad.mit.edu	37	2	160242877	160242877	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:160242877A>T	ENST00000392783.2	-	22	3953	c.3458T>A	c.(3457-3459)aTa>aAa	p.I1153K	BAZ2B_ENST00000392782.1_Missense_Mutation_p.I1117K|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000355831.2_Missense_Mutation_p.I1119K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.I1053K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTATCCTGTTATTAGACCTGG	0.363																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(3457-3459)aTa>aAa		bromodomain adjacent to zinc finger domain, 2B							52.0	47.0	49.0					2																	160242877		1860	4108	5968	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160242877A>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3458T>A	2.37:g.160242877A>T	ENSP00000376534:p.Ile1153Lys					AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Missense_Mutation_p.I1117K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.I1119K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.I1053K	p.I1153K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			22	3953	-			1153					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.3458T>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	A	17.08	3.297976	0.60086	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.58060	0.43;0.42;0.43;0.36	6.08	6.08	0.98989	.	0.210330	0.22624	U	0.057668	T	0.26448	0.0646	N	0.14661	0.345	0.41678	D	0.989273	B;P	0.49961	0.145;0.93	B;B	0.35278	0.043;0.199	T	0.16276	-1.0408	10	0.10902	T	0.67	-5.4486	8.056	0.30606	0.7952:0.1368:0.0681:0.0	.	1117;1153	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	K	1117;1153;1119;1053	ENSP00000376533:I1117K;ENSP00000376534:I1153K;ENSP00000348087:I1119K;ENSP00000339670:I1053K	ENSP00000339670:I1053K	I	-	2	0	BAZ2B	159951123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.264000	0.58859	2.333000	0.79357	0.482000	0.46254	ATA		0.363	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			4	93	0	0	0	1	0	4	93				
ABCB10	23456	broad.mit.edu	37	1	229683345	229683345	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:229683345G>A	ENST00000344517.4	-	3	864	c.822C>T	c.(820-822)cgC>cgT	p.R274R	RNA5SP78_ENST00000364622.1_RNA	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	274	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CTGATGAGAGGCGGTTAATCA	0.527																																						ENST00000344517.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31						c.(820-822)cgC>cgT		ATP-binding cassette, sub-family B (MDR/TAP), member 10							58.0	63.0	61.0					1																	229683345		2203	4300	6503	SO:0001819	synonymous_variant	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229683345G>A	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.822C>T	1.37:g.229683345G>A							p.R274R	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN			3	864	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	274			ABC transmembrane type-1.		Q13040|Q6P1Q8|Q9H3V0	Silent	SNP	ENST00000344517.4	37	c.822C>T	CCDS1580.1																																																																																				0.527	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		5	340	0	0	0	1	0	5	340				
WWOX	51741	broad.mit.edu	37	16	78466551	78466551	+	Missense_Mutation	SNP	G	G	A	rs368670215		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:78466551G>A	ENST00000566780.1	+	8	1324	c.958G>A	c.(958-960)Gca>Aca	p.A320T	WWOX_ENST00000408984.3_Missense_Mutation_p.A320T|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	320	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CACGTCGAACGCAGTGCATCC	0.547																																						ENST00000566780.1																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(958-960)Gca>Aca		WW domain containing oxidoreductase		G	THR/ALA	2,4180		0,2,2089	153.0	156.0	155.0		958	5.9	0.2	16		155	1,8429		0,1,4214	no	missense	WWOX	NM_016373.2	58	0,3,6303	AA,AG,GG		0.0119,0.0478,0.0238	possibly-damaging	320/415	78466551	3,12609	2091	4215	6306	SO:0001583	missense	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78466551G>A	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.958G>A	16.37:g.78466551G>A	ENSP00000457230:p.Ala320Thr					WWOX_ENST00000406884.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.A320T|WWOX_ENST00000539474.2_Intron	p.A320T	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	8	1324	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	320			Interaction with MAPT (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	c.958G>A	CCDS42196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.52|17.52	3.410863|3.410863	0.62399|0.62399	4.78E-4|4.78E-4	1.19E-4|1.19E-4	ENSG00000186153|ENSG00000186153	ENST00000408984|ENST00000299644	D|.	0.94687|.	-3.49|.	5.93|5.93	5.93|5.93	0.95920|0.95920	NAD(P)-binding domain (1);|.	0.177105|.	0.48767|.	D|.	0.000167|.	T|T	0.78704|0.78704	0.4325|0.4325	M|M	0.83692|0.83692	2.655|2.655	0.58432|0.58432	D|D	0.999994|0.999994	P|.	0.48016|.	0.904|.	B|.	0.39258|.	0.295|.	T|T	0.79926|0.79926	-0.1597|-0.1597	10|6	0.72032|0.54805	D|T	0.01|0.06	.|.	15.9635|15.9635	0.79948|0.79948	0.0:0.0:0.8571:0.1429|0.0:0.0:0.8571:0.1429	.|.	320|.	Q9NZC7|.	WWOX_HUMAN|.	T|H	320|161	ENSP00000386161:A320T|.	ENSP00000386161:A320T|ENSP00000299644:R161H	A|R	+|+	1|2	0|0	WWOX|WWOX	77024052|77024052	1.000000|1.000000	0.71417|0.71417	0.199000|0.199000	0.23439|0.23439	0.100000|0.100000	0.18952|0.18952	6.260000|6.260000	0.72502|0.72502	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.547	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			8	625	0	0	0	1	0	8	625				
LETM1	3954	broad.mit.edu	37	4	1827293	1827293	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:1827293G>T	ENST00000302787.2	-	7	1494	c.1198C>A	c.(1198-1200)Cag>Aag	p.Q400K		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	400	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCACGCACCTGCTTCAGCTGA	0.652																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1198-1200)Cag>Aag		leucine zipper-EF-hand containing transmembrane protein 1							52.0	52.0	52.0					4																	1827293		2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1827293G>T	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1198C>A	4.37:g.1827293G>T	ENSP00000305653:p.Gln400Lys						p.Q400K	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		7	1494	-			400			LETM1.		B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.1198C>A	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516767	0.96402	.	.	ENSG00000168924	ENST00000302787	T	0.39997	1.05	5.06	5.06	0.68205	LETM1-like (1);	0.000000	0.85682	D	0.000000	T	0.61776	0.2374	L	0.58810	1.83	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.60321	-0.7286	10	0.40728	T	0.16	-50.9199	18.425	0.90606	0.0:0.0:1.0:0.0	.	400	O95202	LETM1_HUMAN	K	400	ENSP00000305653:Q400K	ENSP00000305653:Q400K	Q	-	1	0	LETM1	1797091	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.290000	0.96065	2.347000	0.79759	0.561000	0.74099	CAG		0.652	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			113	63	1	0	2.74189e-85	1	3.17159e-85	113	63				
STRIP2	57464	broad.mit.edu	37	7	129096278	129096278	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:129096278A>T	ENST00000249344.2	+	9	874		c.e9-1		STRIP2_ENST00000435494.2_Splice_Site	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2						cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											TTTCTTCCTTAGTTTACCCTC	0.517																																						ENST00000249344.2																			0											c.e9-1		striatin interacting protein 2							54.0	57.0	56.0					7																	129096278		2203	4300	6503	SO:0001630	splice_region_variant	57464							g.chr7:129096278A>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.835-1A>T	7.37:g.129096278A>T						STRIP2_ENST00000435494.2_Splice_Site		NM_020704.2	NP_065755.1					9	874	+								Q8WUZ4	Splice_Site	SNP	ENST00000249344.2	37		CCDS34752.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.597735	0.87055	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9834	0.71327	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM40B	128883514	1.000000	0.71417	0.949000	0.38748	0.924000	0.55760	8.875000	0.92372	2.226000	0.72624	0.459000	0.35465	.		0.517	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336	Intron	6	243	0	0	0	1	0	6	243				
RANBP10	57610	broad.mit.edu	37	16	67763619	67763619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:67763619G>A	ENST00000317506.3	-	9	1226	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	RANBP10_ENST00000411657.2_Nonsense_Mutation_p.R254*|RANBP10_ENST00000536251.1_Nonsense_Mutation_p.R142*|RANBP10_ENST00000602677.1_Nonsense_Mutation_p.R371*|RANBP10_ENST00000448631.2_Nonsense_Mutation_p.R315*	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	371	Ser-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GGGCCATGTCGGGGACTGAGG	0.602																																						ENST00000317506.3																			0				endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(1111-1113)Cga>Tga		RAN binding protein 10							65.0	67.0	66.0					16																	67763619		2198	4300	6498	SO:0001587	stop_gained	57610							g.chr16:67763619G>A	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1111C>T	16.37:g.67763619G>A	ENSP00000316589:p.Arg371*					RANBP10_ENST00000536251.1_Nonsense_Mutation_p.R142*|RANBP10_ENST00000448631.2_Nonsense_Mutation_p.R315*|RANBP10_ENST00000411657.2_Nonsense_Mutation_p.R254*|RANBP10_ENST00000602677.1_Nonsense_Mutation_p.R371*	p.R371*	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	9	1226	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	371			Ser-rich.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Nonsense_Mutation	SNP	ENST00000317506.3	37	c.1111C>T	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	G	36	5.731695	0.96856	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.7	4.66	0.58398	.	0.061378	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-6.1683	15.6749	0.77307	0.0:0.0:0.8209:0.1791	.	.	.	.	X	371;315;142;254	.	ENSP00000316589:R371X	R	-	1	2	RANBP10	66321120	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.638000	0.46562	2.700000	0.92200	0.563000	0.77884	CGA		0.602	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		4	44	0	0	0	1	0	4	44				
KIAA0100	9703	broad.mit.edu	37	17	26958913	26958913	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:26958913G>A	ENST00000528896.2	-	22	4095	c.4021C>T	c.(4021-4023)Cag>Tag	p.Q1341*	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.Q1198*|KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.Q1198*|RP11-192H23.7_ENST00000583787.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1341						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCCCGTTGCTGGGCAAATGAG	0.463																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(4021-4023)Cag>Tag		KIAA0100							102.0	104.0	103.0					17																	26958913		2203	4300	6503	SO:0001587	stop_gained	9703					extracellular region		g.chr17:26958913G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.4021C>T	17.37:g.26958913G>A	ENSP00000436773:p.Gln1341*					KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.Q1198*|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.Q1198*	p.Q1341*	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			22	4095	-	Lung NSC(42;0.00431)		1341					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Nonsense_Mutation	SNP	ENST00000528896.2	37	c.4021C>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	45	11.531233	0.99572	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	20.0793	0.97766	0.0:0.0:1.0:0.0	.	.	.	.	X	1341;1311;1341;1198	.	ENSP00000005905:Q1341X	Q	-	1	0	KIAA0100	23983040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.359000	0.97115	2.735000	0.93741	0.650000	0.86243	CAG		0.463	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		6	509	0	0	0	1	0	6	509				
CHRNA3	1136	broad.mit.edu	37	15	78888963	78888963	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:78888963C>A	ENST00000326828.5	-	6	1885	c.1501G>T	c.(1501-1503)Gcc>Tcc	p.A501S	CHRNA3_ENST00000348639.3_Intron	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	501					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	TCTTCCCTGGCCATCAGGGGT	0.498																																						ENST00000326828.5																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1501-1503)Gcc>Tcc		cholinergic receptor, nicotinic, alpha 3 (neuronal)							100.0	89.0	93.0					15																	78888963		2196	4293	6489	SO:0001583	missense	1136				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78888963C>A		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.1501G>T	15.37:g.78888963C>A	ENSP00000315602:p.Ala501Ser					CHRNA3_ENST00000348639.3_Intron	p.A501S	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN			6	1885	-			501					Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	c.1501G>T	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442061	0.25987	.	.	ENSG00000080644	ENST00000326828;ENST00000326858	T	0.78816	-1.21	5.13	1.01	0.19927	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.170780	0.05957	N	0.639971	T	0.59649	0.2209	N	0.12746	0.255	0.18873	N	0.999983	B	0.02656	0.0	B	0.09377	0.004	T	0.48055	-0.9068	10	0.45353	T	0.12	.	4.7455	0.13035	0.2412:0.4517:0.0:0.3071	.	501	P32297	ACHA3_HUMAN	S	501;308	ENSP00000315602:A501S	ENSP00000315602:A501S	A	-	1	0	CHRNA3	76676018	0.839000	0.29477	0.986000	0.45419	0.670000	0.39368	0.515000	0.22801	0.264000	0.21851	0.655000	0.94253	GCC		0.498	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			28	282	1	0	1.61788e-16	1	1.84391e-16	28	282				
GCM1	8521	broad.mit.edu	37	6	52998989	52998989	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:52998989C>T	ENST00000259803.7	-	3	420	c.209G>A	c.(208-210)cGc>cAc	p.R70H		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	70					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CTTGAGGATGCGGGAGTTGTG	0.587																																						ENST00000259803.7																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.(208-210)cGc>cAc		glial cells missing homolog 1 (Drosophila)							135.0	126.0	129.0					6																	52998989		2203	4300	6503	SO:0001583	missense	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52998989C>T	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.209G>A	6.37:g.52998989C>T	ENSP00000259803:p.Arg70His						p.R70H	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			3	420	-	Lung NSC(77;0.0755)		70					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	c.209G>A	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454540	0.63290	.	.	ENSG00000137270	ENST00000259803	T	0.74421	-0.84	4.84	4.84	0.62591	.	0.092295	0.46758	D	0.000263	T	0.67126	0.2860	N	0.12182	0.205	0.53688	D	0.999978	D	0.89917	1.0	D	0.71184	0.972	T	0.67413	-0.5677	10	0.23302	T	0.38	6.9987	18.1392	0.89633	0.0:1.0:0.0:0.0	.	70	Q9NP62	GCM1_HUMAN	H	70	ENSP00000259803:R70H	ENSP00000259803:R70H	R	-	2	0	GCM1	53106948	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.623000	0.54224	2.492000	0.84095	0.655000	0.94253	CGC		0.587	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			5	313	0	0	0	1	0	5	313				
IPO13	9670	broad.mit.edu	37	1	44415569	44415569	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:44415569C>A	ENST00000372343.3	+	2	1227	c.565C>A	c.(565-567)Ctg>Atg	p.L189M		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	189					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCGCAAAGGCCTGGTGCGGAC	0.642																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(565-567)Ctg>Atg		importin 13							18.0	19.0	19.0					1																	44415569		2203	4299	6502	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44415569C>A	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.565C>A	1.37:g.44415569C>A	ENSP00000361418:p.Leu189Met						p.L189M	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			2	1227	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	189					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.565C>A	CCDS503.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893513	0.33442	.	.	ENSG00000117408	ENST00000372343	T	0.45276	0.9	5.46	4.55	0.56014	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.204703	0.47093	D	0.000254	T	0.23370	0.0565	N	0.08118	0	0.80722	D	1	B	0.21688	0.059	B	0.24006	0.05	T	0.05971	-1.0853	10	0.49607	T	0.09	-14.0237	9.0607	0.36433	0.1462:0.7798:0.0:0.074	.	189	O94829	IPO13_HUMAN	M	189	ENSP00000361418:L189M	ENSP00000361418:L189M	L	+	1	2	IPO13	44188156	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.894000	0.56250	1.320000	0.45209	0.491000	0.48974	CTG		0.642	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		6	105	1	0	0.0215528	1	0.0216225	6	105				
MED16	10025	broad.mit.edu	37	19	868496	868496	+	Silent	SNP	G	G	A	rs370725536	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:868496G>A	ENST00000589119.1	-	14	2402	c.2403C>T	c.(2401-2403)tgC>tgT	p.C801C	MED16_ENST00000269814.4_Missense_Mutation_p.A737V|MED16_ENST00000312090.6_Silent_p.C820C|MED16_ENST00000395808.3_Silent_p.C801C|MED16_ENST00000325464.1_Silent_p.C801C			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	801					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACACAGCCGCACCTGCGGG	0.657													G|||	2	0.000399361	0.0	0.0014	5008	,	,		16728	0.0		0.0	False		,,,				2504	0.001					ENST00000269814.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(2209-2211)gCg>gTg		mediator complex subunit 16		G		0,4398		0,0,2199	39.0	40.0	39.0		2403	-7.6	0.9	19		39	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	MED16	NM_005481.2		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		801/878	868496	1,12991	2199	4297	6496	SO:0001819	synonymous_variant	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:868496G>A	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.2403C>T	19.37:g.868496G>A						MED16_ENST00000312090.6_Silent_p.C820C|MED16_ENST00000395808.3_Silent_p.C801C|MED16_ENST00000589119.1_Silent_p.C801C|MED16_ENST00000325464.1_Silent_p.C801C	p.A737V			Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	2342	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	0					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.2210C>T	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.704010	0.68501	0.0	1.16E-4	ENSG00000175221	ENST00000269814	.	.	.	4.27	-7.56	0.01322	.	.	.	.	.	T	0.30823	0.0777	.	.	.	0.23435	N	0.997689	B	0.11235	0.004	B	0.09377	0.004	T	0.18903	-1.0322	7	0.27785	T	0.31	-17.861	14.8888	0.70590	0.7918:0.0:0.2082:0.0	.	737	Q9Y2X0-4	.	V	737	.	ENSP00000269814:A737V	A	-	2	0	MED16	819496	0.001000	0.12720	0.917000	0.36280	0.560000	0.35617	-1.164000	0.03135	-1.551000	0.01706	-0.424000	0.05967	GCG		0.657	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		3	28	0	0	0	1	0	3	28				
VCAM1	7412	broad.mit.edu	37	1	101196826	101196826	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:101196826A>G	ENST00000294728.2	+	6	1378	c.1277A>G	c.(1276-1278)aAg>aGg	p.K426R	VCAM1_ENST00000347652.2_Missense_Mutation_p.K334R|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.K364R	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	426	Ig-like C2-type 5.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTAAGCTGCAAGGTTCCTAGC	0.458																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1276-1278)aAg>aGg		vascular cell adhesion molecule 1	Carvedilol(DB01136)						69.0	70.0	70.0					1																	101196826		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101196826A>G	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1277A>G	1.37:g.101196826A>G	ENSP00000294728:p.Lys426Arg					VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.K364R|VCAM1_ENST00000347652.2_Missense_Mutation_p.K334R	p.K426R	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	6	1378	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	426			Ig-like C2-type 5.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.1277A>G	CCDS773.1	.	.	.	.	.	.	.	.	.	.	A	7.268	0.606605	0.14002	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728	T;T;T	0.21734	1.99;1.99;1.99	5.52	-5.92	0.02261	Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.795361	0.12094	N	0.500110	T	0.05547	0.0146	L	0.59436	1.845	0.09310	N	0.999993	B;B;B	0.27140	0.019;0.169;0.022	B;B;B	0.30646	0.015;0.118;0.032	T	0.41787	-0.9489	10	0.16420	T	0.52	-2.7797	7.1114	0.25392	0.3334:0.403:0.2636:0.0	.	364;334;426	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	R	364;334;426	ENSP00000359137:K364R;ENSP00000304611:K334R;ENSP00000294728:K426R	ENSP00000294728:K426R	K	+	2	0	VCAM1	100969414	0.000000	0.05858	0.013000	0.15412	0.195000	0.23768	-0.315000	0.08081	-0.753000	0.04721	0.460000	0.39030	AAG		0.458	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		3	78	0	0	0	1	0	3	78				
HSPA5	3309	broad.mit.edu	37	9	127998975	127998975	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:127998975T>C	ENST00000324460.6	-	8	2064	c.1861A>G	c.(1861-1863)Aag>Gag	p.K621E		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	621					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.K621E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TCCAGTTCCTTCTTCTTAGCT	0.423										Prostate(1;0.17)																												ENST00000324460.6																			1	Substitution - Missense(1)	p.K621E(1)	kidney(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(1861-1863)Aag>Gag		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)						106.0	100.0	102.0					9																	127998975		2203	4300	6503	SO:0001583	missense	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:127998975T>C		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1861A>G	9.37:g.127998975T>C	ENSP00000324173:p.Lys621Glu	Prostate(1;0.17)					p.K621E	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN			8	2064	-			621					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.1861A>G	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344314	0.41498	.	.	ENSG00000044574	ENST00000324460	T	0.15372	2.43	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.13457	0.0326	N	0.17379	0.485	0.80722	D	1	B	0.17667	0.023	B	0.26310	0.068	T	0.06844	-1.0804	10	0.87932	D	0	-19.9514	13.9572	0.64157	0.0:0.0:0.0:1.0	.	621	P11021	GRP78_HUMAN	E	621	ENSP00000324173:K621E	ENSP00000324173:K621E	K	-	1	0	HSPA5	127038796	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	1.955000	0.56771	0.477000	0.44152	AAG		0.423	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			15	94	0	0	0	1	0	15	94				
MACF1	23499	broad.mit.edu	37	1	39826539	39826539	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:39826539G>A	ENST00000372915.3	+	47	12421	c.12334G>A	c.(12334-12336)Gcc>Acc	p.A4112T	MACF1_ENST00000564288.1_Missense_Mutation_p.A4107T|MACF1_ENST00000567887.1_Missense_Mutation_p.A4144T|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.A2045T|MACF1_ENST00000361689.2_Missense_Mutation_p.A2045T|MACF1_ENST00000539005.1_Missense_Mutation_p.A2045T|MACF1_ENST00000289893.4_Missense_Mutation_p.A2547T|MACF1_ENST00000545844.1_Missense_Mutation_p.A2045T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4112					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	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)			GAAAGCAATTGCCCAATCTCA	0.483																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(12319-12321)Gcc>Acc		microtubule-actin crosslinking factor 1							70.0	68.0	68.0					1																	39826539		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39826539G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12334G>A	1.37:g.39826539G>A	ENSP00000362006:p.Ala4112Thr					MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.A4112T|MACF1_ENST00000567887.1_Missense_Mutation_p.A4144T|MACF1_ENST00000289893.4_Missense_Mutation_p.A2547T|MACF1_ENST00000539005.1_Missense_Mutation_p.A2045T|MACF1_ENST00000317713.7_Missense_Mutation_p.A2045T|MACF1_ENST00000545844.1_Missense_Mutation_p.A2045T|MACF1_ENST00000361689.2_Missense_Mutation_p.A2045T	p.A4107T			Q9UPN3	MACF1_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)		48	13096	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4112					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.12319G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.74|17.74	3.463565|3.463565	0.63513|0.63513	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.62639|.	0.05;0.07;0.05;0.01;0.19;1.15|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.64402|.	D|.	0.000019|.	T|T	0.57946|0.57946	0.2088|0.2088	N|N	0.26042|0.26042	0.785|0.785	0.80722|0.80722	D|D	1|1	D;B;D;B|.	0.69078|.	0.995;0.189;0.997;0.072|.	D;B;D;B|.	0.75020|.	0.976;0.111;0.985;0.076|.	T|T	0.51317|0.51317	-0.8721|-0.8721	10|5	0.09590|.	T|.	0.72|.	.|.	19.6676|19.6676	0.95898|0.95898	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4112;2045;2045;2010|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	T|Y	2045;4112;2045;2045;2045;2547|1178	ENSP00000439537:A2045T;ENSP00000362006:A4112T;ENSP00000354573:A2045T;ENSP00000313438:A2045T;ENSP00000444364:A2045T;ENSP00000289893:A2547T|.	ENSP00000289893:A2547T|.	A|C	+|+	1|2	0|0	MACF1|MACF1	39599126|39599126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.883000|0.883000	0.51084|0.51084	3.223000|3.223000	0.51231|0.51231	2.656000|2.656000	0.90262|0.90262	0.563000|0.563000	0.77884|0.77884	GCC|TGC		0.483	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		5	182	0	0	0	1	0	5	182				
HEATR3	55027	broad.mit.edu	37	16	50136201	50136201	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:50136201C>T	ENST00000299192.7	+	14	1966	c.1775C>T	c.(1774-1776)aCc>aTc	p.T592I	RP11-429P3.5_ENST00000566770.1_RNA|HEATR3_ENST00000285767.4_Missense_Mutation_p.T506I	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	592										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAAGTTACCACCAAAGATCCT	0.408																																						ENST00000299192.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1774-1776)aCc>aTc		HEAT repeat containing 3							204.0	177.0	186.0					16																	50136201		2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50136201C>T	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1775C>T	16.37:g.50136201C>T	ENSP00000299192:p.Thr592Ile					HEATR3_ENST00000285767.4_Missense_Mutation_p.T506I|RP11-429P3.5_ENST00000566770.1_RNA	p.T592I	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN			14	1966	+			592					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.1775C>T	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424786	0.43020	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.64991	-0.13;-0.13	5.49	4.53	0.55603	Armadillo-type fold (1);	0.146336	0.64402	D	0.000009	T	0.48040	0.1478	L	0.29908	0.895	0.40719	D	0.982642	B;B	0.15930	0.01;0.015	B;B	0.14023	0.01;0.006	T	0.41963	-0.9479	10	0.33141	T	0.24	.	11.3925	0.49822	0.0:0.8642:0.0:0.1358	.	506;592	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	I	506;592	ENSP00000285767:T506I;ENSP00000299192:T592I	ENSP00000285767:T506I	T	+	2	0	HEATR3	48693702	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.929000	0.56514	2.744000	0.94065	0.650000	0.86243	ACC		0.408	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		6	620	0	0	0	1	0	6	620				
GEN1	348654	broad.mit.edu	37	2	17963004	17963004	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:17963004G>T	ENST00000381254.2	+	14	2739	c.2525G>T	c.(2524-2526)aGc>aTc	p.S842I	GEN1_ENST00000317402.7_Missense_Mutation_p.S842I|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	842					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAGTTGAGTAGCCCTAAGATA	0.363								Homologous recombination																														ENST00000381254.2																			0				breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(2524-2526)aGc>aTc	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease							53.0	54.0	54.0					2																	17963004		2203	4300	6503	SO:0001583	missense	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17963004G>T	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.2525G>T	2.37:g.17963004G>T	ENSP00000370653:p.Ser842Ile					GEN1_ENST00000317402.7_Missense_Mutation_p.S842I|SMC6_ENST00000402989.1_Intron	p.S842I	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN			14	2739	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		842					Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	c.2525G>T	CCDS1691.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.98|12.98	2.099919|2.099919	0.37048|0.37048	.|.	.|.	ENSG00000178295|ENSG00000178295	ENST00000317402;ENST00000381254|ENST00000536097	T;T|.	0.25912|.	1.77;1.77|.	5.56|5.56	-4.75|-4.75	0.03239|0.03239	.|.	0.708846|.	0.12738|.	N|.	0.443303|.	T|.	0.27967|.	0.0689|.	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B|.	0.23128|.	0.08|.	B|.	0.17098|.	0.017|.	T|.	0.37888|.	-0.9686|.	10|.	0.66056|.	D|.	0.02|.	-0.7039|-0.7039	10.7607|10.7607	0.46264|0.46264	0.2101:0.0:0.6691:0.1209|0.2101:0.0:0.6691:0.1209	.|.	842|.	Q17RS7|.	GEN_HUMAN|.	I|Y	842|477	ENSP00000318977:S842I;ENSP00000370653:S842I|.	ENSP00000318977:S842I|.	S|X	+|+	2|3	0|2	GEN1|GEN1	17826485|17826485	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-0.365000|-0.365000	0.07573|0.07573	-0.422000|-0.422000	0.07405|0.07405	-0.140000|-0.140000	0.14226|0.14226	AGC|TAG		0.363	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		7	55	1	0	0.000274275	1	0.000284366	7	55				
LRRC3B	116135	broad.mit.edu	37	3	26751205	26751205	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:26751205G>T	ENST00000396641.2	+	2	634	c.42G>T	c.(40-42)atG>atT	p.M14I	LRRC3B_ENST00000456208.2_Missense_Mutation_p.M14I|LRRC3B_ENST00000417744.1_Missense_Mutation_p.M14I|AC114877.3_ENST00000446601.1_lincRNA	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	14						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CCCTCTCCATGTGTCTCCTCC	0.458																																						ENST00000396641.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						c.(40-42)atG>atT		leucine rich repeat containing 3B							208.0	198.0	201.0					3																	26751205		2203	4300	6503	SO:0001583	missense	116135					integral to membrane		g.chr3:26751205G>T	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.42G>T	3.37:g.26751205G>T	ENSP00000379880:p.Met14Ile					LRRC3B_ENST00000456208.2_Missense_Mutation_p.M14I|LRRC3B_ENST00000417744.1_Missense_Mutation_p.M14I	p.M14I	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN			2	634	+			14					Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	c.42G>T	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458308	0.43634	.	.	ENSG00000179796	ENST00000396641;ENST00000414619;ENST00000432040;ENST00000417744;ENST00000456208	T;T;T;T	0.59906	0.36;0.23;0.36;0.36	6.17	6.17	0.99709	.	0.238135	0.53938	D	0.000051	T	0.44726	0.1307	L	0.27053	0.805	0.58432	D	0.999993	P	0.39480	0.675	B	0.27608	0.081	T	0.49437	-0.8940	10	0.59425	D	0.04	-19.9934	19.8676	0.96824	0.0:0.0:1.0:0.0	.	14	Q96PB8	LRC3B_HUMAN	I	14	ENSP00000379880:M14I;ENSP00000398184:M14I;ENSP00000406370:M14I;ENSP00000394940:M14I	ENSP00000379880:M14I	M	+	3	0	LRRC3B	26726209	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.577000	0.82486	2.941000	0.99782	0.655000	0.94253	ATG		0.458	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		14	871	1	0	9.16793e-09	1	1.00426e-08	14	871				
ZNF417	147687	broad.mit.edu	37	19	58420544	58420544	+	Missense_Mutation	SNP	T	T	C	rs138596716		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:58420544T>C	ENST00000312026.5	-	3	1266	c.1102A>G	c.(1102-1104)Att>Gtt	p.I368V	ZNF417_ENST00000595559.1_Missense_Mutation_p.I367V|ZNF417_ENST00000536263.1_Missense_Mutation_p.I169V|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TGATGGTTAATAAAGCAGAAC	0.448																																						ENST00000312026.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18						c.(1102-1104)Att>Gtt		zinc finger protein 417		T	VAL/ILE	0,4406		0,0,2203	110.0	103.0	105.0		1102	-3.3	0.0	19	dbSNP_134	105	4,8590		0,4,4293	no	missense	ZNF417	NM_152475.2	29	0,4,6496	CC,CT,TT		0.0465,0.0,0.0308	benign	368/576	58420544	4,12996	2203	4297	6500	SO:0001583	missense	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58420544T>C	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1102A>G	19.37:g.58420544T>C	ENSP00000311319:p.Ile368Val					ZNF417_ENST00000595559.1_Missense_Mutation_p.I367V|ZNF417_ENST00000536263.1_Missense_Mutation_p.I169V|CTD-2583A14.9_ENST00000602124.1_Intron	p.I368V	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	1266	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	368					B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	c.1102A>G	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	6.595	0.478058	0.12521	0.0	4.65E-4	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.15017	2.46;2.46	2.21	-3.34	0.04943	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05135	0.0137	N	0.02103	-0.685	0.09310	N	1	B;B	0.14012	0.005;0.009	B;B	0.12837	0.002;0.008	T	0.36890	-0.9729	9	0.33940	T	0.23	.	4.9541	0.14031	0.0:0.3333:0.1568:0.5099	.	368;368	F5H0M9;Q8TAU3	.;ZN417_HUMAN	V	368;169	ENSP00000311319:I368V;ENSP00000442760:I169V	ENSP00000311319:I368V	I	-	1	0	ZNF417	63112356	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.839000	0.01686	-0.820000	0.04318	0.254000	0.18369	ATT		0.448	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		437	299	0	0	0	1	0	437	299				
KRT23	25984	broad.mit.edu	37	17	39084809	39084809	+	Silent	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:39084809C>A	ENST00000209718.3	-	5	1111	c.687G>T	c.(685-687)gtG>gtT	p.V229V	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Silent_p.V92V	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	229	Linker 12.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GACCTGTATCCACCTTCACAT	0.413																																						ENST00000209718.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(685-687)gtG>gtT		keratin 23 (histone deacetylase inducible)							184.0	175.0	178.0					17																	39084809		2203	4300	6503	SO:0001819	synonymous_variant	25984					intermediate filament	structural molecule activity	g.chr17:39084809C>A	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.687G>T	17.37:g.39084809C>A						AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Silent_p.V92V	p.V229V	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN			5	1111	-		Breast(137;0.000301)|Ovarian(249;0.15)	229			Linker 12.|Rod.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Silent	SNP	ENST00000209718.3	37	c.687G>T	CCDS11380.1																																																																																				0.413	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			6	294	1	0	0.00307968	1	0.00314046	6	294				
COLEC12	81035	broad.mit.edu	37	18	347298	347298	+	Silent	SNP	G	G	T	rs567240593		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:347298G>T	ENST00000400256.3	-	5	531	c.324C>A	c.(322-324)ctC>ctA	p.L108L		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	108					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TGAAGGTGGAGAGTTCTGAGT	0.438																																						ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(322-324)ctC>ctA		collectin sub-family member 12							138.0	130.0	133.0					18																	347298		2203	4300	6503	SO:0001819	synonymous_variant	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:347298G>T	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.324C>A	18.37:g.347298G>T							p.L108L	NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN			5	531	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	108					Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000400256.3	37	c.324C>A	CCDS32782.1																																																																																				0.438	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			26	1022	1	0	3.5997e-14	1	4.05784e-14	26	1022				
TOX4	9878	broad.mit.edu	37	14	21955705	21955705	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:21955705C>T	ENST00000405508.1	+	4	447	c.171C>T	c.(169-171)ggC>ggT	p.G57G	TOX4_ENST00000262709.3_Silent_p.G57G|TOX4_ENST00000448790.2_Silent_p.G34G|TOX4_ENST00000494242.1_3'UTR			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	57						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		ATGTGGTTGGCCACTTTGATG	0.502																																						ENST00000405508.1																			0				large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(169-171)ggC>ggT		TOX high mobility group box family member 4							162.0	145.0	151.0					14																	21955705		2203	4300	6503	SO:0001819	synonymous_variant	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21955705C>T	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.171C>T	14.37:g.21955705C>T						TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000262709.3_Silent_p.G57G|TOX4_ENST00000448790.2_Silent_p.G34G	p.G57G			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	4	447	+	all_cancers(95;0.000465)		57					B4DPY8|B4DSM0|E7EV69	Silent	SNP	ENST00000405508.1	37	c.171C>T	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	c	8.817	0.936575	0.18206	.	.	ENSG00000092203	ENST00000545559	.	.	.	5.43	4.55	0.56014	.	.	.	.	.	T	0.44265	0.1285	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26744	-1.0094	5	0.18710	T	0.47	.	7.0672	0.25159	0.311:0.6103:0.0:0.0787	.	.	.	.	V	24	.	ENSP00000444203:A24V	A	+	2	0	TOX4	21025545	0.962000	0.33011	1.000000	0.80357	0.987000	0.75469	0.093000	0.15086	1.431000	0.47355	-0.121000	0.15023	GCC		0.502	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		4	223	0	0	0	1	0	4	223				
ZMYM6	9204	broad.mit.edu	37	1	35496172	35496172	+	Silent	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:35496172A>T	ENST00000357182.4	-	2	296	c.69T>A	c.(67-69)atT>atA	p.I23I	ZMYM6_ENST00000487874.1_Silent_p.I23I|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Silent_p.I23I|ZMYM6_ENST00000317538.5_Silent_p.I23I|ZMYM6_ENST00000373333.1_Silent_p.I23I	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	23					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GTTCTTCTTTAATTTTGTCCA	0.348																																						ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(67-69)atT>atA		zinc finger, MYM-type 6							130.0	129.0	129.0					1																	35496172		2203	4300	6503	SO:0001819	synonymous_variant	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35496172A>T	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.69T>A	1.37:g.35496172A>T						ZMYM6_ENST00000487874.1_Silent_p.I23I|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000317538.5_Silent_p.I23I|ZMYM6_ENST00000373340.2_Silent_p.I23I|ZMYM6_ENST00000373333.1_Silent_p.I23I	p.I23I	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN			2	296	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	23					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Silent	SNP	ENST00000357182.4	37	c.69T>A	CCDS387.2																																																																																				0.348	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		6	131	0	0	0	1	0	6	131				
IKBKB	3551	broad.mit.edu	37	8	42163859	42163859	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:42163859A>T	ENST00000520810.1	+	7	663		c.e7-1		IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000519735.1_Splice_Site|IKBKB_ENST00000379708.3_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta						B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTTTTGTTTTAGTTAATACAC	0.438																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.e7-1		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						87.0	80.0	83.0					8																	42163859		2203	4300	6503	SO:0001630	splice_region_variant	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42163859A>T	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.478-1A>T	8.37:g.42163859A>T						IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000519735.1_Splice_Site|IKBKB_ENST00000522147.1_Intron		NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		7	663	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)						B4DZ30|B4E0U4|O75327	Splice_Site	SNP	ENST00000520810.1	37		CCDS6128.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.595846	0.86953	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000519735;ENST00000520835	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2236	0.73333	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IKBKB	42283016	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	9.283000	0.95860	2.050000	0.60909	0.533000	0.62120	.		0.438	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1		Intron	9	143	0	0	0	1	0	9	143				
VMO1	284013	broad.mit.edu	37	17	4689310	4689310	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:4689310G>A	ENST00000328739.5	-	2	312	c.233C>T	c.(232-234)gCa>gTa	p.A78V	VMO1_ENST00000354194.4_Intron|VMO1_ENST00000416307.2_Missense_Mutation_p.A78V|VMO1_ENST00000441199.2_Missense_Mutation_p.A78V|GLTPD2_ENST00000331264.7_5'Flank	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	78						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						CCCATTCAGTGCAGTGTCGTC	0.617																																						ENST00000328739.5																			0				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						c.(232-234)gCa>gTa		vitelline membrane outer layer 1 homolog (chicken)							755.0	684.0	708.0					17																	4689310		2203	4300	6503	SO:0001583	missense	284013				vitelline membrane formation	extracellular region		g.chr17:4689310G>A	AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.233C>T	17.37:g.4689310G>A	ENSP00000328397:p.Ala78Val					VMO1_ENST00000441199.2_Missense_Mutation_p.A78V|VMO1_ENST00000416307.2_Missense_Mutation_p.A78V|VMO1_ENST00000354194.4_Intron	p.A78V	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN			2	312	-			78					C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	ENST00000328739.5	37	c.233C>T	CCDS11055.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391993	0.62066	.	.	ENSG00000182853	ENST00000328739;ENST00000416307;ENST00000441199	T;T;T	0.51817	0.69;0.69;0.69	4.43	4.43	0.53597	.	0.056888	0.64402	D	0.000001	T	0.73102	0.3544	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.995	T	0.79242	-0.1884	10	0.72032	D	0.01	-12.4098	12.404	0.55428	0.0:0.0:1.0:0.0	.	78;78;78	C9JQ15;E9PAU9;Q7Z5L0	.;.;VMO1_HUMAN	V	78	ENSP00000328397:A78V;ENSP00000390450:A78V;ENSP00000408166:A78V	ENSP00000328397:A78V	A	-	2	0	VMO1	4636050	1.000000	0.71417	0.295000	0.24960	0.022000	0.10575	5.434000	0.66526	2.286000	0.76751	0.563000	0.77884	GCA		0.617	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	NM_182566		35	1804	0	0	0	1	0	35	1804				
ATP13A4	84239	broad.mit.edu	37	3	193177001	193177001	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:193177001A>G	ENST00000342695.4	-	14	1865	c.1543T>C	c.(1543-1545)Ttt>Ctt	p.F515L	ATP13A4_ENST00000295548.3_Missense_Mutation_p.F515L|ATP13A4_ENST00000392443.3_Missense_Mutation_p.F496L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	515						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.F515L(1)		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)		CCTGAGGCAAAGCTGTGAACT	0.517																																						ENST00000342695.4																			1	Substitution - Missense(1)	p.F515L(1)	kidney(1)	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.(1543-1545)Ttt>Ctt		ATPase type 13A4							58.0	55.0	56.0					3																	193177001		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.chr3:193177001A>G	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.1543T>C	3.37:g.193177001A>G	ENSP00000339182:p.Phe515Leu					ATP13A4_ENST00000295548.3_Missense_Mutation_p.F515L|ATP13A4_ENST00000392443.3_Missense_Mutation_p.F496L	p.F515L	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)	14	1865	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		515					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.1543T>C	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	A	12.72	2.022667	0.35701	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	T;T;D	0.87571	-0.22;-0.22;-2.27	5.41	5.41	0.78517	ATPase, cation-transporting, domain N (1);	0.082497	0.52532	D	0.000080	T	0.76948	0.4059	N	0.25245	0.725	0.41709	D	0.989446	B;B;B	0.18741	0.02;0.024;0.03	B;B;B	0.26864	0.072;0.044;0.074	T	0.69308	-0.5179	10	0.09843	T	0.71	-19.6129	9.9494	0.41630	0.8487:0.0:0.0:0.1513	.	515;515;515	Q4VNC1-3;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	L	496;515;515	ENSP00000376238:F496L;ENSP00000339182:F515L;ENSP00000295548:F515L	ENSP00000295548:F515L	F	-	1	0	ATP13A4	194659695	1.000000	0.71417	0.999000	0.59377	0.680000	0.39746	4.691000	0.61738	2.063000	0.61619	0.528000	0.53228	TTT		0.517	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		68	447	0	0	0	1	0	68	447				
OR6F1	343169	broad.mit.edu	37	1	247875219	247875219	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:247875219A>G	ENST00000302084.2	-	1	886	c.839T>C	c.(838-840)gTg>gCg	p.V280A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGGAGTCACCACAGTGTTCAG	0.453																																						ENST00000302084.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(838-840)gTg>gCg		olfactory receptor, family 6, subfamily F, member 1							124.0	121.0	122.0					1																	247875219		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875219A>G	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.839T>C	1.37:g.247875219A>G	ENSP00000305640:p.Val280Ala					RP11-634B7.4_ENST00000449298.1_RNA	p.V280A	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	886	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		280					B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.839T>C	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.072909	0.36566	.	.	ENSG00000169214	ENST00000302084	T	0.00304	8.19	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.501136	0.15409	N	0.263882	T	0.00210	0.0006	L	0.41906	1.305	0.09310	N	1	B	0.24426	0.103	B	0.22152	0.038	T	0.37478	-0.9704	10	0.52906	T	0.07	-12.2749	11.2643	0.49101	1.0:0.0:0.0:0.0	.	280	Q8NGZ6	OR6F1_HUMAN	A	280	ENSP00000305640:V280A	ENSP00000305640:V280A	V	-	2	0	OR6F1	245941842	0.448000	0.25681	0.010000	0.14722	0.003000	0.03518	5.665000	0.68052	1.574000	0.49760	0.482000	0.46254	GTG		0.453	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		6	441	0	0	0	1	0	6	441				
UNC5C	8633	broad.mit.edu	37	4	96141148	96141148	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:96141148C>T	ENST00000453304.1	-	8	1636	c.1288G>A	c.(1288-1290)Gca>Aca	p.A430T	UNC5C_ENST00000506749.1_Missense_Mutation_p.A449T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	430					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)		TGTCTTGCTGCCTTGATGTTC	0.428																																						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.(1288-1290)Gca>Aca		unc-5 homolog C (C. elegans)							143.0	130.0	134.0					4																	96141148		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96141148C>T	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.1288G>A	4.37:g.96141148C>T	ENSP00000406022:p.Ala430Thr					UNC5C_ENST00000506749.1_Missense_Mutation_p.A449T	p.A430T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	8	1636	-		Hepatocellular(203;0.114)	430					Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.1288G>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	6.134	0.392953	0.11638	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.54071	0.92;0.59;0.64	5.59	5.59	0.84812	.	0.100518	0.64402	D	0.000002	T	0.27384	0.0672	N	0.02286	-0.61	0.80722	D	1	B;B;B	0.14438	0.0;0.01;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.33828	-0.9853	10	0.02654	T	1	.	19.5953	0.95535	0.0:1.0:0.0:0.0	.	430;449;430	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	T	430;389;449;449	ENSP00000406022:A430T;ENSP00000426924:A449T;ENSP00000426153:A449T	ENSP00000328673:A389T	A	-	1	0	UNC5C	96360171	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.790000	0.55461	2.643000	0.89663	0.655000	0.94253	GCA		0.428	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		8	196	0	0	0	1	0	8	196				
CNKSR2	22866	broad.mit.edu	37	X	21667027	21667027	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:21667027T>C	ENST00000379510.3	+	21	2807	c.2771T>C	c.(2770-2772)cTa>cCa	p.L924P	CNKSR2_ENST00000425654.2_Missense_Mutation_p.L894P	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	924					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CTGTCACCACTAGGAGAACAT	0.378																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2680-2682)cTa>cCa		connector enhancer of kinase suppressor of Ras 2							109.0	109.0	109.0					X																	21667027		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21667027T>C	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2771T>C	X.37:g.21667027T>C	ENSP00000368824:p.Leu924Pro					CNKSR2_ENST00000379510.3_Missense_Mutation_p.L924P	p.L894P	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			20	3161	+			924					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.2681T>C	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178139	0.57692	.	.	ENSG00000149970	ENST00000425654;ENST00000379510	T;T	0.19105	2.17;2.17	5.76	5.76	0.90799	.	0.136459	0.50627	D	0.000109	T	0.30510	0.0767	L	0.55990	1.75	0.27776	N	0.943333	P;P	0.43662	0.814;0.712	P;P	0.47015	0.534;0.534	T	0.16482	-1.0401	10	0.62326	D	0.03	-14.7002	15.0548	0.71904	0.0:0.0:0.0:1.0	.	894;924	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	P	894;924	ENSP00000397906:L894P;ENSP00000368824:L924P	ENSP00000368824:L924P	L	+	2	0	CNKSR2	21576948	0.974000	0.33945	0.975000	0.42487	0.976000	0.68499	4.265000	0.58865	1.938000	0.56188	0.486000	0.48141	CTA		0.378	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		3	49	0	0	0	1	0	3	49				
TMOD1	7111	broad.mit.edu	37	9	100286421	100286421	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:100286421A>T	ENST00000259365.4	+	2	165		c.e2-1		TMOD1_ENST00000395211.2_Splice_Site	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1						adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TCTTTCTGGTAGGTATTACTC	0.453																																						ENST00000395211.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11						c.e2-1		tropomodulin 1							64.0	60.0	62.0					9																	100286421		2203	4300	6503	SO:0001630	splice_region_variant	7111				muscle filament sliding	cytosol	actin binding	g.chr9:100286421A>T		CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.-48-1A>T	9.37:g.100286421A>T						TMOD1_ENST00000259365.3_Splice_Site		NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN		STAD - Stomach adenocarcinoma(157;0.105)	2	88	+		Acute lymphoblastic leukemia(62;0.154)						B2RB77|Q5T7W3|Q9BUF1	Splice_Site	SNP	ENST00000259365.4	37		CCDS6726.1																																																																																				0.453	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275	Intron	5	133	0	0	0	1	0	5	133				
CEP350	9857	broad.mit.edu	37	1	180049692	180049692	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:180049692C>G	ENST00000367607.3	+	30	6438	c.6020C>G	c.(6019-6021)tCt>tGt	p.S2007C		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2007					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAGCAGGAGTCTAGCAAAGGA	0.383											OREG0004796	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(6019-6021)tCt>tGt		centrosomal protein 350kDa							137.0	129.0	132.0					1																	180049692		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180049692C>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6020C>G	1.37:g.180049692C>G	ENSP00000356579:p.Ser2007Cys		OREG0004796	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1958		p.S2007C	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			30	6438	+			2007					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.6020C>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952301	0.73787	.	.	ENSG00000135837	ENST00000367607;ENST00000437245	T;T	0.51817	0.69;0.69	5.58	5.58	0.84498	.	0.000000	0.48286	D	0.000188	T	0.66297	0.2775	M	0.67953	2.075	0.45250	D	0.998255	D;D	0.76494	0.999;0.998	D;P	0.79784	0.993;0.873	T	0.65290	-0.6204	9	.	.	.	.	15.1945	0.73075	0.1415:0.8585:0.0:0.0	.	2007;2007	E7EU22;Q5VT06	.;CE350_HUMAN	C	2007;14	ENSP00000356579:S2007C;ENSP00000409395:S14C	.	S	+	2	0	CEP350	178316315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.713000	0.47194	2.632000	0.89209	0.591000	0.81541	TCT		0.383	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		86	204	0	0	0	1	0	86	204				
VIPR2	7434	broad.mit.edu	37	7	158828645	158828645	+	Silent	SNP	G	G	A	rs146877374		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:158828645G>A	ENST00000262178.2	-	8	992	c.807C>T	c.(805-807)acC>acT	p.T269T	VIPR2_ENST00000402066.1_Silent_p.T410T|VIPR2_ENST00000377633.3_Silent_p.T253T	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	269					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GGACTCACCCGGTGTCTTCTA	0.592																																					Pancreas(154;1876 1931 2329 17914 20079)	ENST00000262178.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(805-807)acC>acT		vasoactive intestinal peptide receptor 2		G		0,4406		0,0,2203	86.0	63.0	71.0		807	-8.4	1.0	7	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	VIPR2	NM_003382.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		269/439	158828645	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158828645G>A	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.807C>T	7.37:g.158828645G>A						VIPR2_ENST00000377633.3_Silent_p.T253T|VIPR2_ENST00000402066.1_Silent_p.T410T	p.T269T	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	8	992	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	269					Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Silent	SNP	ENST00000262178.2	37	c.807C>T	CCDS5950.1																																																																																				0.592	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		3	115	0	0	0	1	0	3	115				
COL7A1	1294	broad.mit.edu	37	3	48630554	48630554	+	Silent	SNP	G	G	A	rs367607652		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:48630554G>A	ENST00000328333.8	-	5	770	c.663C>T	c.(661-663)ggC>ggT	p.G221G	COL7A1_ENST00000454817.1_Silent_p.G221G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	221	Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCACAGGCACGCCACCAGCAG	0.582																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(661-663)ggC>ggT		collagen, type VII, alpha 1		G		0,4406		0,0,2203	94.0	80.0	84.0		663	-8.6	0.3	3		84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL7A1	NM_000094.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		221/2945	48630554	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48630554G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.663C>T	3.37:g.48630554G>A						COL7A1_ENST00000454817.1_Silent_p.G221G	p.G221G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	5	770	-			221			Nonhelical region (NC1).		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.663C>T	CCDS2773.1																																																																																				0.582	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		4	74	0	0	0	1	0	4	74				
IGFL4	444882	broad.mit.edu	37	19	46543533	46543533	+	Missense_Mutation	SNP	C	C	T	rs148950533	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:46543533C>T	ENST00000377697.1	-	3	265	c.212G>A	c.(211-213)tGc>tAc	p.C71Y	IGFL4_ENST00000601672.1_5'UTR|IGFL4_ENST00000595006.1_5'Flank	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	71						extracellular space (GO:0005615)		p.C71Y(1)		cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GTGCTGGAAGCAGGGCCAGAA	0.577																																						ENST00000377697.1																			1	Substitution - Missense(1)	p.C71Y(1)	kidney(1)	cervix(1)|kidney(1)|lung(1)	3						c.(211-213)tGc>tAc		IGF-like family member 4							45.0	49.0	48.0					19																	46543533		2199	4300	6499	SO:0001583	missense	444882					extracellular region		g.chr19:46543533C>T	AY672114	CCDS33057.1	19q13.32	2006-07-14							32931	protein-coding gene	gene with protein product		610547				14702039	Standard	NM_001002923		Approved		uc002pdy.1	Q6B9Z1		ENST00000377697.1:c.212G>A	19.37:g.46543533C>T	ENSP00000366926:p.Cys71Tyr					IGFL4_ENST00000601672.1_5'UTR	p.C71Y	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)	3	265	-		all_neural(266;0.113)|Ovarian(192;0.127)	71						Missense_Mutation	SNP	ENST00000377697.1	37	c.212G>A	CCDS33057.1	.	.	.	.	.	.	.	.	.	.	c	14.72	2.621103	0.46736	.	.	ENSG00000204869	ENST00000377697	T	0.25085	1.82	2.39	1.34	0.21922	.	0.207220	0.24628	N	0.036904	T	0.22666	0.0547	L	0.42245	1.32	0.23232	N	0.998071	P	0.38800	0.648	B	0.43809	0.432	T	0.09952	-1.0651	10	0.87932	D	0	.	4.9265	0.13896	0.0:0.8229:0.0:0.1771	.	71	Q6B9Z1	IGFL4_HUMAN	Y	71	ENSP00000366926:C71Y	ENSP00000366926:C71Y	C	-	2	0	IGFL4	51235373	0.769000	0.28531	0.613000	0.29037	0.420000	0.31355	1.343000	0.33930	0.617000	0.30160	0.388000	0.25769	TGC		0.577	IGFL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461698.1	NM_001002923		5	65	0	0	0	1	0	5	65				
ANXA6	309	broad.mit.edu	37	5	150502481	150502481	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:150502481G>A	ENST00000354546.5	-	16	1457	c.1230C>T	c.(1228-1230)ggC>ggT	p.G410G	ANXA6_ENST00000521512.1_Silent_p.G203G|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Silent_p.G410G|ANXA6_ENST00000523714.1_Silent_p.G378G	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	410					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTTACCCGGCCAAAGTGAG	0.572																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(1228-1230)ggC>ggT		annexin A6							115.0	123.0	121.0					5																	150502481		2128	4240	6368	SO:0001819	synonymous_variant	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150502481G>A	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1230C>T	5.37:g.150502481G>A						ANXA6_ENST00000356496.5_Silent_p.G410G|ANXA6_ENST00000521512.1_Silent_p.G203G|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Silent_p.G378G	p.G410G	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	1457	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	410					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Silent	SNP	ENST00000354546.5	37	c.1230C>T	CCDS47315.1																																																																																				0.572	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		5	390	0	0	0	1	0	5	390				
TTN	7273	broad.mit.edu	37	2	179582840	179582840	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:179582840T>C	ENST00000591111.1	-	84	24166	c.23942A>G	c.(23941-23943)tAt>tGt	p.Y7981C	TTN_ENST00000589042.1_Missense_Mutation_p.Y8298C|TTN_ENST00000342992.6_Missense_Mutation_p.Y7054C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12172	Ig-like 62.				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)			GTGTTCTTTATACCAAGAAAT	0.373																																						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.(24892-24894)tAt>tGt		titin							137.0	126.0	129.0					2																	179582840		1866	4118	5984	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179582840T>C	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.23942A>G	2.37:g.179582840T>C	ENSP00000465570:p.Tyr7981Cys					TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Y7054C|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Y7981C|TTN-AS1_ENST00000585451.1_RNA	p.Y8298C	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)		86	25117	-			7981			Ig-like 65.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.24893A>G		.	.	.	.	.	.	.	.	.	.	T	8.856	0.945864	0.18356	.	.	ENSG00000155657	ENST00000342992	T	0.72051	-0.62	6.16	4.95	0.65309	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84556	0.5498	M	0.88377	2.95	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	D	0.87315	0.2314	9	0.87932	D	0	.	12.451	0.55677	0.1254:0.0:0.0:0.8746	.	7981	Q8WZ42	TITIN_HUMAN	C	7054	ENSP00000343764:Y7054C	ENSP00000343764:Y7054C	Y	-	2	0	TTN	179291085	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.173000	0.58249	2.367000	0.80283	0.528000	0.53228	TAT		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	284	0	0	0	1	0	7	284				
VNN1	8876	broad.mit.edu	37	6	133013392	133013392	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:133013392C>T	ENST00000367928.4	-	5	1171	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	386					acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CCACAGTGTGCAGTCCGTCAA	0.363																																						ENST00000367928.4																			0				NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1156-1158)ctG>ctA		vanin 1							103.0	99.0	100.0					6																	133013392		2203	4300	6503	SO:0001819	synonymous_variant	8876				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	g.chr6:133013392C>T	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.1158G>A	6.37:g.133013392C>T							p.L386L	NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)	5	1171	-	Breast(56;0.135)		386					A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Silent	SNP	ENST00000367928.4	37	c.1158G>A	CCDS5159.1																																																																																				0.363	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			7	404	0	0	0	1	0	7	404				
USF2	7392	broad.mit.edu	37	19	35769606	35769606	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:35769606C>G	ENST00000222305.3	+	8	770	c.733C>G	c.(733-735)Cgg>Ggg	p.R245G	USF2_ENST00000379134.3_Missense_Mutation_p.R114G|USF2_ENST00000343550.5_Missense_Mutation_p.R178G|USF2_ENST00000595068.1_Missense_Mutation_p.R245G|USF2_ENST00000594064.1_Missense_Mutation_p.R243G|HAMP_ENST00000598398.1_5'Flank|USF2_ENST00000600341.1_3'UTR	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	245	Poly-Arg.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				lactation (GO:0007595)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGCAGTGGAGCGGAGGCGGAG	0.597																																					NSCLC(103;173 2832 8890)	ENST00000222305.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13						c.(733-735)Cgg>Ggg		upstream transcription factor 2, c-fos interacting							184.0	179.0	181.0					19																	35769606		2203	4300	6503	SO:0001583	missense	7392				lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:35769606C>G	AY007087	CCDS12452.1, CCDS12453.1	19q13	2013-05-21				ENSG00000105698		"""Basic helix-loop-helix proteins"""	12594	protein-coding gene	gene with protein product		600390				8954795	Standard	NM_003367		Approved	FIP, bHLHb12	uc002nyq.1	Q15853		ENST00000222305.3:c.733C>G	19.37:g.35769606C>G	ENSP00000222305:p.Arg245Gly					USF2_ENST00000595068.1_Missense_Mutation_p.R245G|USF2_ENST00000594064.1_Missense_Mutation_p.R243G|USF2_ENST00000600341.1_3'UTR|USF2_ENST00000379134.3_Missense_Mutation_p.R114G|USF2_ENST00000343550.5_Missense_Mutation_p.R178G	p.R245G	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	770	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		245			Poly-Arg.		O00671|O00709|Q05750|Q07952|Q15851|Q15852|Q6FI33|Q6YI47	Missense_Mutation	SNP	ENST00000222305.3	37	c.733C>G	CCDS12452.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073975	0.76415	.	.	ENSG00000105698	ENST00000222305;ENST00000343550;ENST00000379134	D;D;D	0.99042	-5.36;-5.36;-5.36	5.44	4.36	0.52297	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99524	0.9830	H	0.98594	4.275	0.53005	D	0.999969	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.999	D	0.97889	1.0296	10	0.87932	D	0	.	10.6947	0.45892	0.2745:0.7255:0.0:0.0	.	243;245;114;178;245	B4DLJ1;Q15853-2;Q6YI47;Q15853-3;Q15853	.;.;.;.;USF2_HUMAN	G	245;178;114	ENSP00000222305:R245G;ENSP00000340633:R178G;ENSP00000368429:R114G	ENSP00000222305:R245G	R	+	1	2	USF2	40461446	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.940000	0.28992	2.832000	0.97577	0.655000	0.94253	CGG		0.597	USF2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466056.1	NM_003367		5	230	0	0	0	1	0	5	230				
LAMA1	284217	broad.mit.edu	37	18	7080334	7080334	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:7080334G>A	ENST00000389658.3	-	2	277	c.184C>T	c.(184-186)Cga>Tga	p.R62*	RP11-76K13.3_ENST00000581502.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	62	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R62R(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGTGGGTTTCGGACGGGCCGA	0.552																																						ENST00000389658.3																			1	Substitution - coding silent(1)	p.R62R(1)	lung(1)	NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(184-186)Cga>Tga		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						83.0	84.0	84.0					18																	7080334		2203	4300	6503	SO:0001587	stop_gained	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7080334G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.184C>T	18.37:g.7080334G>A	ENSP00000374309:p.Arg62*						p.R62*	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			2	277	-		Colorectal(10;0.172)	62			Laminin N-terminal.			Nonsense_Mutation	SNP	ENST00000389658.3	37	c.184C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.368753	0.61624	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.68	2.74	0.32292	.	0.070115	0.53938	D	0.000059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9581	0.71135	0.0:0.0:0.6297:0.3703	.	.	.	.	X	62	.	ENSP00000374309:R62X	R	-	1	2	LAMA1	7070334	0.988000	0.35896	0.012000	0.15200	0.236000	0.25371	3.381000	0.52455	0.702000	0.31825	0.650000	0.86243	CGA		0.552	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		3	85	0	0	0	1	0	3	85				
PHF3	23469	broad.mit.edu	37	6	64389899	64389899	+	Splice_Site	SNP	A	A	T	rs200623505		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:64389899A>T	ENST00000262043.3	+	3	584		c.e3-1		PHF3_ENST00000393387.1_Splice_Site|PHF3_ENST00000509330.1_Splice_Site			Q92576	PHF3_HUMAN	PHD finger protein 3						multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTTTTTTTCTAGTTGTTGGTC	0.308																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.e3-1		PHD finger protein 3							84.0	85.0	84.0					6																	64389899		2203	4300	6503	SO:0001630	splice_region_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64389899A>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.245-1A>T	6.37:g.64389899A>T						PHF3_ENST00000393387.1_Splice_Site|PHF3_ENST00000509330.1_Splice_Site				Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	584	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)							A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Splice_Site	SNP	ENST00000262043.3	37		CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.369739	0.61624	.	.	ENSG00000118482	ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	.	.	.	5.87	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0911	0.48117	0.9279:0.0:0.0721:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHF3	64447858	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.923000	0.63412	1.053000	0.40415	0.482000	0.46254	.		0.308	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		Intron	4	46	0	0	0	1	0	4	46				
RIMBP2	23504	broad.mit.edu	37	12	130926846	130926846	+	Missense_Mutation	SNP	C	C	T	rs141970284		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:130926846C>T	ENST00000261655.4	-	8	1163	c.1000G>A	c.(1000-1002)Gtc>Atc	p.V334I	RIMBP2_ENST00000535703.1_Missense_Mutation_p.V242I|RIMBP2_ENST00000536002.1_Missense_Mutation_p.V242I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	334	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.V334I(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCCACCAGGACGTTGTAGCTG	0.562																																						ENST00000261655.4																			1	Substitution - Missense(1)	p.V334I(1)	kidney(1)	NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(1000-1002)Gtc>Atc		RIMS binding protein 2			ILE/VAL	0,4406		0,0,2203	185.0	171.0	176.0		1000	4.3	0.8	12	dbSNP_134	176	1,8599	1.2+/-3.3	0,1,4299	no	missense	RIMBP2	NM_015347.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	334/1053	130926846	1,13005	2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130926846C>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1000G>A	12.37:g.130926846C>T	ENSP00000261655:p.Val334Ile					RIMBP2_ENST00000535703.1_Missense_Mutation_p.V242I|RIMBP2_ENST00000536002.1_Missense_Mutation_p.V242I	p.V334I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	1163	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	334			Fibronectin type-III 1.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.1000G>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	c	15.29	2.788631	0.49997	0.0	1.16E-4	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.57273	0.41;0.41;0.41	4.27	4.27	0.50696	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.54935	0.1889	L	0.35341	1.055	0.53005	D	0.999968	P;D	0.76494	0.893;0.999	B;D	0.71184	0.369;0.972	T	0.47947	-0.9077	10	0.12430	T	0.62	-32.0817	10.4012	0.44231	0.0:0.9086:0.0:0.0914	.	242;334	O15034-2;O15034	.;RIMB2_HUMAN	I	334;242;242;242	ENSP00000261655:V334I;ENSP00000440347:V242I;ENSP00000439159:V242I	ENSP00000261655:V334I	V	-	1	0	RIMBP2	129492799	1.000000	0.71417	0.759000	0.31340	0.790000	0.44656	6.042000	0.70996	1.907000	0.55213	0.431000	0.28591	GTC		0.562	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		14	508	0	0	0	1	0	14	508				
RSU1	6251	broad.mit.edu	37	10	16824085	16824085	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:16824085T>A	ENST00000377921.3	-	2	411		c.e2-2		RSU1_ENST00000464074.2_Intron|RSU1_ENST00000345264.5_Splice_Site|RSU1_ENST00000602389.1_Splice_Site			Q15404	RSU1_HUMAN	Ras suppressor protein 1						cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		ATAAGGTAACTAAAAAGAAAA	0.358																																						ENST00000377921.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14						c.e2-2		Ras suppressor protein 1							110.0	113.0	112.0					10																	16824085		2203	4300	6503	SO:0001630	splice_region_variant	6251				cell junction assembly|signal transduction	cytosol	protein binding	g.chr10:16824085T>A	AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.110-2A>T	10.37:g.16824085T>A						RSU1_ENST00000345264.5_Splice_Site|RSU1_ENST00000602389.1_Splice_Site|RSU1_ENST00000464074.2_Intron				Q15404	RSU1_HUMAN		GBM - Glioblastoma multiforme(1;7.54e-08)	2	411	-								A8KA46|D3DRU3|Q6FI17	Splice_Site	SNP	ENST00000377921.3	37		CCDS7112.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.358992	0.82353	.	.	ENSG00000148484	ENST00000345264;ENST00000377921	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6646	0.56835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RSU1	16864091	1.000000	0.71417	0.723000	0.30687	0.746000	0.42486	5.749000	0.68704	2.083000	0.62718	0.533000	0.62120	.		0.358	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	NM_012425, NM_152724	Intron	8	118	0	0	0	1	0	8	118				
GUCY2D	3000	broad.mit.edu	37	17	7907283	7907283	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:7907283G>A	ENST00000254854.4	+	3	985	c.835G>A	c.(835-837)Gac>Aac	p.D279N		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	279					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				CCTGCCCTTCGACACGATCCA	0.682																																						ENST00000254854.4																			0				skin(1)	1						c.(835-837)Gac>Aac		guanylate cyclase 2D, membrane (retina-specific)							111.0	106.0	108.0					17																	7907283		2203	4300	6503	SO:0001583	missense	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7907283G>A	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.835G>A	17.37:g.7907283G>A	ENSP00000254854:p.Asp279Asn						p.D279N	NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN			3	985	+		Prostate(122;0.157)	279					Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	c.835G>A	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076993	0.94000	.	.	ENSG00000132518	ENST00000254854	T	0.80123	-1.34	4.53	4.53	0.55603	Extracellular ligand-binding receptor (1);	0.132039	0.34507	N	0.003902	D	0.90055	0.6894	M	0.83774	2.66	0.43740	D	0.996232	D	0.89917	1.0	D	0.91635	0.999	D	0.91624	0.5313	10	0.72032	D	0.01	.	16.223	0.82269	0.0:0.0:1.0:0.0	.	279	Q02846	GUC2D_HUMAN	N	279	ENSP00000254854:D279N	ENSP00000254854:D279N	D	+	1	0	GUCY2D	7848008	1.000000	0.71417	0.999000	0.59377	0.849000	0.48306	9.018000	0.93657	2.363000	0.80096	0.561000	0.74099	GAC		0.682	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			3	66	0	0	0	1	0	3	66				
SLU7	10569	broad.mit.edu	37	5	159830332	159830332	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:159830332T>C	ENST00000297151.4	-	16	2108	c.1721A>G	c.(1720-1722)cAg>cGg	p.Q574R		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	574					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTGGCCTCTGACGTTTCAT	0.448																																						ENST00000297151.4																			0				endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20						c.(1720-1722)cAg>cGg		SLU7 splicing factor homolog (S. cerevisiae)							228.0	229.0	229.0					5																	159830332		2203	4300	6503	SO:0001583	missense	10569				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	g.chr5:159830332T>C	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.1721A>G	5.37:g.159830332T>C	ENSP00000297151:p.Gln574Arg						p.Q574R	NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		16	2108	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	574					D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	c.1721A>G	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	T	9.460	1.092900	0.20471	.	.	ENSG00000164609	ENST00000297151	T	0.29397	1.57	5.71	5.71	0.89125	.	0.303220	0.34986	N	0.003530	T	0.10766	0.0263	N	0.00621	-1.32	0.40178	D	0.977251	B	0.06786	0.001	B	0.04013	0.001	T	0.25813	-1.0121	10	0.13108	T	0.6	-15.0047	15.9781	0.80086	0.0:0.0:0.0:1.0	.	574	O95391	SLU7_HUMAN	R	574	ENSP00000297151:Q574R	ENSP00000297151:Q574R	Q	-	2	0	SLU7	159762910	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.547000	0.53663	2.171000	0.68590	0.533000	0.62120	CAG		0.448	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425		9	1211	0	0	0	1	0	9	1211				
LRP2	4036	broad.mit.edu	37	2	170134463	170134463	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:170134463T>A	ENST00000263816.3	-	13	1851		c.e13-2		LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2						cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AATAAATAACTACAAAAGAAA	0.363																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.e13-2		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						40.0	43.0	42.0					2																	170134463		2203	4300	6503	SO:0001630	splice_region_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170134463T>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1566-2A>T	2.37:g.170134463T>A						LRP2_ENST00000443831.1_Intron		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	13	1851	-								O00711|Q16215	Splice_Site	SNP	ENST00000263816.3	37		CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.160385	0.57368	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1311	0.81442	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP2	169842709	1.000000	0.71417	0.987000	0.45799	0.415000	0.31203	7.916000	0.87491	2.209000	0.71365	0.454000	0.30748	.		0.363	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	Intron	4	40	0	0	0	1	0	4	40				
TRPC3	7222	broad.mit.edu	37	4	122820852	122820852	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:122820852T>A	ENST00000379645.3	-	10	2537		c.e10-2		TRPC3_ENST00000513531.1_Splice_Site|TRPC3_ENST00000264811.5_Splice_Site	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GAGGTTTAACTAGGAAAAAAT	0.303																																						ENST00000264811.5																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.e9-2		transient receptor potential cation channel, subfamily C, member 3							116.0	116.0	116.0					4																	122820852		2203	4300	6503	SO:0001630	splice_region_variant	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122820852T>A	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2464-2A>T	4.37:g.122820852T>A						TRPC3_ENST00000513531.1_Splice_Site|TRPC3_ENST00000379645.3_Splice_Site		NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			9	2663	-								A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Splice_Site	SNP	ENST00000379645.3	37		CCDS47130.1	.	.	.	.	.	.	.	.	.	.	T	19.67	3.871660	0.72065	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6507	0.77091	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPC3	123040302	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.529000	0.73812	2.180000	0.69256	0.533000	0.62120	.		0.303	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305	Intron	4	105	0	0	0	1	0	4	105				
RAD18	56852	broad.mit.edu	37	3	8944117	8944117	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:8944117A>T	ENST00000264926.2	-	10	1231	c.1115T>A	c.(1114-1116)gTa>gAa	p.V372E		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	372					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TGTTATTGTTACTGTTTTTTG	0.308								Rad6 pathway																														ENST00000264926.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(1114-1116)gTa>gAa	Rad6 pathway	RAD18 homolog (S. cerevisiae)							169.0	157.0	161.0					3																	8944117		2202	4300	6502	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8944117A>T		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.1115T>A	3.37:g.8944117A>T	ENSP00000264926:p.Val372Glu						p.V372E	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	10	1231	-			372					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.1115T>A	CCDS2571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.71|19.71	3.878097|3.878097	0.72294|0.72294	.|.	.|.	ENSG00000070950|ENSG00000070950	ENST00000427329|ENST00000264926	.|T	.|0.21543	.|2.0	4.63|4.63	-0.884|-0.884	0.10597|0.10597	.|.	.|0.879574	.|0.09632	.|N	.|0.776134	T|T	0.12689|0.12689	0.0308|0.0308	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	.|B	.|0.27823	.|0.19	.|B	.|0.20955	.|0.032	T|T	0.37641|0.37641	-0.9697|-0.9697	5|10	.|0.02654	.|T	.|1	-7.1221|-7.1221	4.2604|4.2604	0.10739|0.10739	0.545:0.1698:0.2852:0.0|0.545:0.1698:0.2852:0.0	.|.	.|372	.|Q9NS91	.|RAD18_HUMAN	R|E	8|372	.|ENSP00000264926:V372E	.|ENSP00000264926:V372E	S|V	-|-	3|2	2|0	RAD18|RAD18	8919117|8919117	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.787000|0.787000	0.44495|0.44495	0.250000|0.250000	0.18235|0.18235	-0.296000|-0.296000	0.08947|0.08947	0.460000|0.460000	0.39030|0.39030	AGT|GTA		0.308	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		4	82	0	0	0	1	0	4	82				
TOPORS	10210	broad.mit.edu	37	9	32541886	32541886	+	Silent	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		6	317	0	0	0	1	0	6	317				
GRIN2A	2903	broad.mit.edu	37	16	9857569	9857569	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:9857569G>T	ENST00000396573.2	-	14	4141	c.3832C>A	c.(3832-3834)Caa>Aaa	p.Q1278K	GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q1278K|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q1278K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1278					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.Q1278K(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTTTGTAATTGAAGGGCATTG	0.517																																						ENST00000396573.2																			1	Substitution - Missense(1)	p.Q1278K(1)	kidney(1)	NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3832-3834)Caa>Aaa		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						123.0	100.0	108.0					16																	9857569		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857569G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3832C>A	16.37:g.9857569G>T	ENSP00000379818:p.Gln1278Lys					GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q1278K|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q1278K	p.Q1278K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	4141	-			1278					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3832C>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	4.638	0.118512	0.08881	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.11604	2.76;2.76;2.76	5.32	5.32	0.75619	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.102605	0.64402	D	0.000002	T	0.15132	0.0365	L	0.58101	1.795	0.80722	D	1	B	0.33777	0.425	B	0.34536	0.185	T	0.03148	-1.1067	9	.	.	.	.	18.0244	0.89264	0.0:0.0:1.0:0.0	.	1278	Q12879	NMDE1_HUMAN	K	1278	ENSP00000379818:Q1278K;ENSP00000332549:Q1278K;ENSP00000379820:Q1278K	.	Q	-	1	0	GRIN2A	9765070	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.433000	0.80362	2.495000	0.84180	0.655000	0.94253	CAA		0.517	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			13	89	1	0	6.31663e-08	1	6.84669e-08	13	89				
ITPR1	3708	broad.mit.edu	37	3	4725389	4725389	+	Silent	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:4725389C>A	ENST00000443694.2	+	25	3360	c.3360C>A	c.(3358-3360)atC>atA	p.I1120I	ITPR1_ENST00000456211.2_Silent_p.I1111I|ITPR1_ENST00000423119.2_Silent_p.I1126I|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Silent_p.I1126I|ITPR1_ENST00000354582.6_Silent_p.I1135I|ITPR1_ENST00000302640.8_Silent_p.I1120I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1135					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TGAGGTCCATCGTGGAAAAGT	0.468																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(3403-3405)atC>atA		inositol 1,4,5-trisphosphate receptor, type 1							124.0	114.0	117.0					3																	4725389		1962	4145	6107	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4725389C>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3360C>A	3.37:g.4725389C>A						ITPR1_ENST00000423119.2_Silent_p.I1126I|ITPR1_ENST00000456211.2_Silent_p.I1111I|ITPR1_ENST00000443694.2_Silent_p.I1120I|ITPR1_ENST00000357086.4_Silent_p.I1126I|ITPR1_ENST00000302640.8_Silent_p.I1120I|ITPR1_ENST00000544951.1_Intron	p.I1135I			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	28	3755	+			1135					E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.3405C>A	CCDS54551.1																																																																																				0.468	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		7	306	1	0	8.12818e-05	1	8.45549e-05	7	306				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			2679							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		3	37	0	0	0	1	0	3	37				
GAS5-AS1	100506046	broad.mit.edu	37	1	173833568	173833568	+	RNA	SNP	C	C	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:173833568C>G	ENST00000602767.1	+	0	1388				GAS5_ENST00000364822.2_RNA|GAS5_ENST00000363859.1_RNA|GAS5_ENST00000363840.1_RNA|SNORD78_ENST00000385582.1_RNA|GAS5_ENST00000385578.2_RNA|GAS5_ENST00000365524.1_RNA|GAS5_ENST00000363146.1_RNA	NR_037605.1				GAS5 antisense RNA 1																		TTGGCAGAATCATTACATCAT	0.348																																						ENST00000365524.1																			0																				52.0	47.0	49.0					1																	173833568		876	1990	2866			60674							g.chr1:173833568C>G	AF088026		1q25.1	2013-02-15	2012-08-15		ENSG00000270084	ENSG00000270084		"""Long non-coding RNAs"""	44119	non-coding RNA	RNA, long non-coding			"""GAS5 antisense RNA 1 (non-protein coding)"""				Standard	NR_037605		Approved		uc021pfa.1		OTTHUMG00000184089		1.37:g.173833568C>G								NR_002746.1						0	15	-									RNA	SNP	ENST00000602767.1	37																																																																																						0.348	GAS5-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000468012.1	NR_037605		4	99	0	0	0	1	0	4	99				
ZC3H11A	9877	broad.mit.edu	37	1	203816426	203816426	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:203816426C>A	ENST00000545588.1	+	12	4984	c.1157C>A	c.(1156-1158)tCa>tAa	p.S386*	ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S386*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S386*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S386*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S386*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	386					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S386*(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGGACCTTCAAAAACTGAT	0.423																																						ENST00000545588.1																			1	Substitution - Nonsense(1)	p.S386*(1)	kidney(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1156-1158)tCa>tAa		zinc finger CCCH-type containing 11A							48.0	49.0	49.0					1																	203816426		2203	4300	6503	SO:0001587	stop_gained	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203816426C>A		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1157C>A	1.37:g.203816426C>A	ENSP00000438527:p.Ser386*					ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S386*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S386*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S386*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S386*	p.S386*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		12	4984	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		386					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Nonsense_Mutation	SNP	ENST00000545588.1	37	c.1157C>A	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	39	7.738175	0.98462	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	.	.	.	5.65	1.3	0.21679	.	0.865325	0.10275	N	0.694256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-29.2693	4.3455	0.11131	0.144:0.3761:0.3938:0.0861	.	.	.	.	X	386;386;332;386;386;386;386	.	ENSP00000333253:S386X	S	+	2	0	ZC3H11A	202083049	0.109000	0.22037	0.998000	0.56505	0.997000	0.91878	1.189000	0.32114	1.351000	0.45789	0.650000	0.86243	TCA		0.423	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		37	36	1	0	6.57855e-14	1	7.38895e-14	37	36				
MUC17	140453	broad.mit.edu	37	7	100676296	100676296	+	Silent	SNP	A	A	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:100676296A>C	ENST00000306151.4	+	3	1663	c.1599A>C	c.(1597-1599)acA>acC	p.T533T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	533	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCTTTCAACAACTCCTGTTG	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(1597-1599)acA>acC		mucin 17, cell surface associated							349.0	357.0	354.0					7																	100676296		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676296A>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1599A>C	7.37:g.100676296A>C							p.T533T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	1663	+	Lung NSC(181;0.136)|all_lung(186;0.182)		533			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.1599A>C	CCDS34711.1																																																																																				0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		10	488	0	0	0	1	0	10	488				
WDR46	9277	broad.mit.edu	37	6	33247321	33247321	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:33247321C>T	ENST00000374617.4	-	14	2043	c.1687G>A	c.(1687-1689)Gca>Aca	p.A563T	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	563							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						ACCAGGCTTGCCGTGGAGCTG	0.587																																						ENST00000374617.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						c.(1687-1689)Gca>Aca		WD repeat domain 46							195.0	191.0	193.0					6																	33247321		2203	4300	6503	SO:0001583	missense	9277							g.chr6:33247321C>T	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.1687G>A	6.37:g.33247321C>T	ENSP00000363746:p.Ala563Thr					B3GALT4_ENST00000606990.1_Intron	p.A563T	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN			14	2043	-			563					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	c.1687G>A	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737106	0.69304	.	.	ENSG00000227057	ENST00000374617	T	0.20598	2.06	6.02	5.15	0.70609	.	0.207771	0.49305	D	0.000141	T	0.11495	0.0280	M	0.68593	2.085	0.42929	D	0.994314	B;B	0.33413	0.411;0.026	B;B	0.29524	0.103;0.008	T	0.03287	-1.1052	10	0.28530	T	0.3	-6.0315	13.2233	0.59901	0.0:0.9234:0.0:0.0766	.	509;563	B4DP15;O15213	.;WDR46_HUMAN	T	563	ENSP00000363746:A563T	ENSP00000363746:A563T	A	-	1	0	WDR46	33355299	0.962000	0.33011	0.018000	0.16275	0.988000	0.76386	3.914000	0.56401	1.560000	0.49568	0.549000	0.68633	GCA		0.587	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		5	201	0	0	0	1	0	5	201				
MT-ND5	4540	broad.mit.edu	37	M	13703	13703	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrM:13703G>A	ENST00000361567.2	+	1	1367	c.1367G>A	c.(1366-1368)cGc>cAc	p.R456H	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TT_ENST00000387460.2_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	456				R -> G (in Ref. 1; CAA24036). {ECO:0000305}.	cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CCCCATTAAACGCCTGGCAGC	0.473																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1366-1368)cGc>cAc		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13703G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1367G>A	M.37:g.13703G>A	ENSP00000354813:p.Arg456His						p.R456H			P03915	NU5M_HUMAN			1	1367	+			456	R -> G (in Ref. 1; CAA24036).				Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.1367G>A																																																																																					0.473	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		2	0	0	0	0	1	0	2	0				
CABIN1	23523	broad.mit.edu	37	22	24483490	24483490	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:24483490C>T	ENST00000398319.2	+	23	3734	c.3349C>T	c.(3349-3351)Ccc>Tcc	p.P1117S	CABIN1_ENST00000405822.2_Missense_Mutation_p.P1067S|CABIN1_ENST00000263119.5_Missense_Mutation_p.P1117S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1117					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAGTGATGGGCCCATTTGGAA	0.562																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3349-3351)Ccc>Tcc		calcineurin binding protein 1							95.0	79.0	84.0					22																	24483490		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24483490C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3349C>T	22.37:g.24483490C>T	ENSP00000381364:p.Pro1117Ser					CABIN1_ENST00000405822.2_Missense_Mutation_p.P1067S|CABIN1_ENST00000263119.5_Missense_Mutation_p.P1117S	p.P1117S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			23	3734	+			1117					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.3349C>T	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796909	0.90453	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.63417	0.15;-0.04;0.15	5.1	5.1	0.69264	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.78742	0.4331	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.79334	-0.1846	10	0.51188	T	0.08	.	17.9574	0.89073	0.0:1.0:0.0:0.0	.	1067;1117	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	S	1117;1067;1117	ENSP00000263119:P1117S;ENSP00000384694:P1067S;ENSP00000381364:P1117S	ENSP00000263119:P1117S	P	+	1	0	CABIN1	22813490	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.704000	0.84595	2.568000	0.86640	0.650000	0.86243	CCC		0.562	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		11	487	0	0	0	1	0	11	487				
SPINK5	11005	broad.mit.edu	37	5	147486670	147486670	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:147486670T>C	ENST00000256084.7	+	17	1592	c.1550T>C	c.(1549-1551)gTc>gCc	p.V517A	SPINK5_ENST00000359874.3_Missense_Mutation_p.V517A|SPINK5_ENST00000398454.1_Missense_Mutation_p.V517A	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	517	Kazal-like 8. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATAATCCTGTCCGTGGCCCA	0.463																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(1549-1551)gTc>gCc		serine peptidase inhibitor, Kazal type 5							158.0	155.0	156.0					5																	147486670		2015	4183	6198	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147486670T>C	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1550T>C	5.37:g.147486670T>C	ENSP00000256084:p.Val517Ala					SPINK5_ENST00000398454.1_Missense_Mutation_p.V517A|SPINK5_ENST00000256084.7_Missense_Mutation_p.V517A	p.V517A	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	1623	+			517			Kazal-like 8.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.1550T>C	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.618082	0.46736	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	4.81	4.81	0.61882	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.341443	0.21341	N	0.076135	T	0.46580	0.1400	M	0.91717	3.235	0.26193	N	0.979566	D;D;D;D	0.64830	0.987;0.992;0.994;0.992	D;P;D;P	0.65987	0.94;0.9;0.94;0.9	T	0.49781	-0.8903	10	0.72032	D	0.01	-9.3435	10.9434	0.47287	0.0:0.0:0.0:1.0	.	498;517;517;517	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	A	517;517;498;517	ENSP00000381472:V517A;ENSP00000352936:V517A;ENSP00000421519:V498A;ENSP00000256084:V517A	ENSP00000256084:V517A	V	+	2	0	SPINK5	147466863	0.981000	0.34729	0.984000	0.44739	0.133000	0.20885	3.814000	0.55643	2.164000	0.68074	0.459000	0.35465	GTC		0.463	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		10	859	0	0	0	1	0	10	859				
SLC13A5	284111	broad.mit.edu	37	17	6590942	6590942	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:6590942C>T	ENST00000433363.2	-	11	1714	c.1481G>A	c.(1480-1482)tGt>tAt	p.C494Y	SLC13A5_ENST00000381074.4_Missense_Mutation_p.C451Y|SLC13A5_ENST00000293800.6_Missense_Mutation_p.C477Y|SLC13A5_ENST00000573648.1_Intron	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	494					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						ACTCAGGGTACAGGGCAGCAT	0.547																																						ENST00000433363.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(1480-1482)tGt>tAt		solute carrier family 13 (sodium-dependent citrate transporter), member 5							196.0	139.0	158.0					17																	6590942		2203	4300	6503	SO:0001583	missense	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6590942C>T	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.1481G>A	17.37:g.6590942C>T	ENSP00000406220:p.Cys494Tyr					SLC13A5_ENST00000293800.6_Missense_Mutation_p.C477Y|SLC13A5_ENST00000381074.4_Missense_Mutation_p.C451Y|SLC13A5_ENST00000573648.1_Intron	p.C494Y	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN			11	1714	-			494					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	37	c.1481G>A	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066065	0.76187	.	.	ENSG00000141485	ENST00000293800;ENST00000381074	T	0.03094	4.05	5.15	5.15	0.70609	.	0.042511	0.85682	D	0.000000	T	0.23094	0.0558	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79108	0.992;0.989;0.986	T	0.01382	-1.1369	10	0.72032	D	0.01	.	16.5146	0.84296	0.0:1.0:0.0:0.0	.	451;477;494	F8W7N2;B3KXR0;Q86YT5	.;.;S13A5_HUMAN	Y	494;451	ENSP00000370464:C451Y	ENSP00000293800:C494Y	C	-	2	0	SLC13A5	6531666	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.387000	0.66243	2.589000	0.87451	0.655000	0.94253	TGT		0.547	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		6	383	0	0	0	1	0	6	383				
FGA	2243	broad.mit.edu	37	4	155507521	155507521	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:155507521G>T	ENST00000302053.3	-	5	1138	c.1060C>A	c.(1060-1062)Cct>Act	p.P354T	FGA_ENST00000403106.3_Missense_Mutation_p.P354T	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	354					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.P354T(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTACTACCAGGTCTAGGGCTC	0.557																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			1	Substitution - Missense(1)	p.P354T(1)	kidney(1)	NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1060-1062)Cct>Act		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						78.0	82.0	80.0					4																	155507521		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507521G>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1060C>A	4.37:g.155507521G>T	ENSP00000306361:p.Pro354Thr					FGA_ENST00000403106.3_Missense_Mutation_p.P354T	p.P354T	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1138	-	all_hematologic(180;0.215)	Renal(120;0.0458)	354					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1060C>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532625	0.27387	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	D;D	0.81739	-1.53;-1.53	4.88	-3.15	0.05233	.	2.155260	0.02993	N	0.147047	T	0.74520	0.3727	M	0.62723	1.935	0.09310	N	1	B;B	0.19583	0.037;0.004	B;B	0.12837	0.008;0.001	T	0.56625	-0.7948	10	0.72032	D	0.01	.	2.5281	0.04696	0.4898:0.1255:0.2569:0.1278	.	354;354	P02671-2;P02671	.;FIBA_HUMAN	T	354	ENSP00000306361:P354T;ENSP00000385981:P354T	ENSP00000306361:P354T	P	-	1	0	FGA	155726971	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-4.040000	0.00307	-0.392000	0.07751	-0.262000	0.10625	CCT		0.557	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		11	52	1	0	6.81908e-15	1	7.71501e-15	11	52				
HPS3	84343	broad.mit.edu	37	3	148872892	148872892	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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	6	88	0	0	0	1	0	6	88				
KIAA0020	9933	broad.mit.edu	37	9	2829881	2829881	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:2829881C>G	ENST00000397885.2	-	8	951	c.745G>C	c.(745-747)Gcg>Ccg	p.A249P	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	249	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GATGCTTCCGCATGCCGCAGC	0.443																																						ENST00000397885.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(745-747)Gcg>Ccg		KIAA0020							228.0	199.0	209.0					9																	2829881		2203	4300	6503	SO:0001583	missense	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2829881C>G	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.745G>C	9.37:g.2829881C>G	ENSP00000380982:p.Ala249Pro					KIAA0020_ENST00000469168.1_5'UTR	p.A249P	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	8	951	-			249			PUM-HD.		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	c.745G>C	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504565	0.44558	.	.	ENSG00000080608	ENST00000397885	T	0.59224	0.28	6.17	2.1	0.27182	Armadillo-like helical (1);Armadillo-type fold (1);	0.261472	0.44688	D	0.000437	T	0.40909	0.1136	N	0.17674	0.51	0.30580	N	0.762618	B;B	0.32101	0.132;0.356	B;B	0.40228	0.158;0.323	T	0.37753	-0.9692	10	0.23302	T	0.38	-19.2161	6.0892	0.19985	0.3897:0.473:0.0:0.1373	.	109;249	B2RDG4;Q15397	.;K0020_HUMAN	P	249	ENSP00000380982:A249P	ENSP00000380982:A249P	A	-	1	0	KIAA0020	2819881	0.647000	0.27304	0.003000	0.11579	0.797000	0.45037	1.194000	0.32174	0.115000	0.18071	-0.181000	0.13052	GCG		0.443	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		13	1234	0	0	0	1	0	13	1234				
GABBR2	9568	broad.mit.edu	37	9	101216407	101216407	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:101216407G>A	ENST00000259455.2	-	7	1551	c.1092C>T	c.(1090-1092)gtC>gtT	p.V364V		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	364					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCTTGGCGATGACCCAGATGC	0.592																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(1090-1092)gtC>gtT		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						165.0	138.0	147.0					9																	101216407		2203	4300	6503	SO:0001819	synonymous_variant	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101216407G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1092C>T	9.37:g.101216407G>A							p.V364V	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			7	1551	-		Acute lymphoblastic leukemia(62;0.0527)	364					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	c.1092C>T	CCDS6736.1																																																																																				0.592	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			5	329	0	0	0	1	0	5	329				
ZNF516	9658	broad.mit.edu	37	18	74091373	74091373	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:74091373C>T	ENST00000443185.2	-	4	3014	c.2697G>A	c.(2695-2697)gcG>gcA	p.A899A	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	899					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCTGTGTGGCCGCGCCATGTG	0.697																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2695-2697)gcG>gcA		zinc finger protein 516							24.0	31.0	29.0					18																	74091373		1863	4050	5913	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091373C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2697G>A	18.37:g.74091373C>T						ZNF516_ENST00000524431.2_5'UTR	p.A899A	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	3014	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	899						Silent	SNP	ENST00000443185.2	37	c.2697G>A																																																																																					0.697	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		4	7	0	0	0	1	0	4	7				
UNC13A	23025	broad.mit.edu	37	19	17750001	17750001	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:17750001C>A	ENST00000519716.2	-	25	2971	c.2972G>T	c.(2971-2973)cGa>cTa	p.R991L	UNC13A_ENST00000552293.1_Missense_Mutation_p.R991L|UNC13A_ENST00000550896.1_Missense_Mutation_p.R989L|UNC13A_ENST00000551649.1_Missense_Mutation_p.R991L|UNC13A_ENST00000252773.7_Missense_Mutation_p.R991L|UNC13A_ENST00000428389.2_Missense_Mutation_p.R1079L	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	991					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTGGCTGGCTCGGGGCGGGCT	0.547																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(3235-3237)cGa>cTa		unc-13 homolog A (C. elegans)							44.0	49.0	47.0					19																	17750001		2025	4240	6265	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17750001C>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2972G>T	19.37:g.17750001C>A	ENSP00000429562:p.Arg991Leu					UNC13A_ENST00000552293.1_Missense_Mutation_p.R991L|UNC13A_ENST00000551649.1_Missense_Mutation_p.R991L|UNC13A_ENST00000550896.1_Missense_Mutation_p.R989L|UNC13A_ENST00000519716.2_Missense_Mutation_p.R991L|UNC13A_ENST00000252773.7_Missense_Mutation_p.R991L	p.R1079L			Q9UPW8	UN13A_HUMAN			26	3235	-			991					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.3236G>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384686	0.82792	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.83250	-1.68;-1.7;-1.68;-1.53;-1.56;-1.69	3.52	3.52	0.40303	.	0.000000	0.64402	U	0.000002	D	0.83482	0.5264	M	0.77820	2.39	0.53688	D	0.999974	P	0.37083	0.581	B	0.39465	0.3	D	0.86259	0.1654	10	0.87932	D	0	-9.739	12.9709	0.58511	0.0:1.0:0.0:0.0	.	991	Q9UPW8	UN13A_HUMAN	L	991;1079;991;991;991;989	ENSP00000429562:R991L;ENSP00000400409:R1079L;ENSP00000252773:R991L;ENSP00000447236:R991L;ENSP00000447572:R991L;ENSP00000446831:R989L	ENSP00000252773:R991L	R	-	2	0	UNC13A	17611001	1.000000	0.71417	0.783000	0.31826	0.942000	0.58702	7.558000	0.82253	1.694000	0.51137	0.478000	0.44815	CGA		0.547	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		21	54	1	0	8.58068e-18	1	9.81554e-18	21	54				
SRRT	51593	broad.mit.edu	37	7	100479340	100479340	+	Silent	SNP	T	T	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:100479340T>G	ENST00000347433.4	+	4	470	c.312T>G	c.(310-312)ggT>ggG	p.G104G	SRRT_ENST00000457580.2_Silent_p.G104G|SRRT_ENST00000432932.1_Silent_p.G104G|SRRT_ENST00000388793.4_Silent_p.G104G			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	104					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G104G(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTGGGGGGGGTGGGGGCCCAA	0.607																																						ENST00000388793.4																			1	Substitution - coding silent(1)	p.G104G(1)	endometrium(1)	breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(310-312)ggT>ggG		serrate RNA effector molecule homolog (Arabidopsis)							29.0	31.0	30.0					7																	100479340		2199	4294	6493	SO:0001819	synonymous_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100479340T>G		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.312T>G	7.37:g.100479340T>G						SRRT_ENST00000457580.2_Silent_p.G104G|SRRT_ENST00000432932.1_Silent_p.G104G|SRRT_ENST00000347433.4_Silent_p.G104G	p.G104G	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			4	532	+			104					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	c.312T>G	CCDS34709.1																																																																																				0.607	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		10	138	0	0	0	1	0	10	138				
RNF20	56254	broad.mit.edu	37	9	104314698	104314698	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:104314698T>C	ENST00000389120.3	+	13	1654	c.1564T>C	c.(1564-1566)Tcc>Ccc	p.S522P	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	522					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCTCCTGCAGTCCCAGTCTAG	0.493																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1564-1566)Tcc>Ccc		ring finger protein 20, E3 ubiquitin protein ligase							157.0	171.0	166.0					9																	104314698		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104314698T>C	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1564T>C	9.37:g.104314698T>C	ENSP00000373772:p.Ser522Pro						p.S522P	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	13	1654	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	522					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.1564T>C	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.063751	0.55432	.	.	ENSG00000155827	ENST00000389120	T	0.33216	1.42	6.17	6.17	0.99709	.	0.227380	0.48286	D	0.000199	T	0.47673	0.1458	L	0.45051	1.395	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.22173	-1.0224	10	0.29301	T	0.29	-8.9861	16.4837	0.84171	0.0:0.0:0.0:1.0	.	522	Q5VTR2	BRE1A_HUMAN	P	522	ENSP00000373772:S522P	ENSP00000373772:S522P	S	+	1	0	RNF20	103354519	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.361000	0.52306	2.371000	0.80710	0.533000	0.62120	TCC		0.493	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		4	296	0	0	0	1	0	4	296				
C1S	716	broad.mit.edu	37	12	7172402	7172402	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:7172402A>T	ENST00000406697.1	+	9	1145		c.e9-1		C1S_ENST00000360817.5_Splice_Site|C1S_ENST00000402681.3_Splice_Site|C1S_ENST00000328916.3_Splice_Site			P09871	C1S_HUMAN	complement component 1, s subcomponent						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)	TTTCTCTGTTAGTTAATTGCA	0.418																																					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.e9-1		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)						66.0	65.0	65.0					12																	7172402		2203	4300	6503	SO:0001630	splice_region_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7172402A>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.518-1A>T	12.37:g.7172402A>T						C1S_ENST00000328916.3_Splice_Site|C1S_ENST00000402681.3_Splice_Site|C1S_ENST00000360817.5_Splice_Site				P09871	C1S_HUMAN			9	1145	+								D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Splice_Site	SNP	ENST00000406697.1	37		CCDS31735.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.745149	0.30955	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1S	7042663	1.000000	0.71417	0.987000	0.45799	0.181000	0.23173	7.053000	0.76641	2.371000	0.80710	0.533000	0.62120	.		0.418	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734	Intron	31	294	0	0	0	1	0	31	294				
HERPUD1	9709	broad.mit.edu	37	16	56969179	56969179	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:56969179G>A	ENST00000439977.2	+	2	377	c.180G>A	c.(178-180)ggG>ggA	p.G60G	HERPUD1_ENST00000379792.2_Silent_p.G60G|HERPUD1_ENST00000300302.5_Silent_p.G60G|HERPUD1_ENST00000344114.4_Silent_p.G60G|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	60	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TTTATTCTGGGAAGCTGTTGT	0.418			T	ERG	prostate																																	ENST00000439977.2				Dom	yes		16	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""			E	ERG		prostate		0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						c.(178-180)ggG>ggA		homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1							136.0	121.0	126.0					16																	56969179		2198	4300	6498	SO:0001819	synonymous_variant	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56969179G>A	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.180G>A	16.37:g.56969179G>A						HERPUD1_ENST00000300302.5_Silent_p.G60G|HERPUD1_ENST00000379792.2_Silent_p.G60G|HERPUD1_ENST00000344114.4_Silent_p.G60G|HERPUD1_ENST00000570273.1_3'UTR	p.G60G	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN			2	377	+			60			Ubiquitin-like.		E9PGD1|O60644|Q6IAN8|Q96D92	Silent	SNP	ENST00000439977.2	37	c.180G>A	CCDS10771.1																																																																																				0.418	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			9	42	0	0	0	1	0	9	42				
PUS10	150962	broad.mit.edu	37	2	61188662	61188662	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:61188662G>T	ENST00000316752.6	-	10	1071	c.810C>A	c.(808-810)aaC>aaA	p.N270K	PUS10_ENST00000407787.1_Missense_Mutation_p.N270K	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	270					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			CCTTTGGTGAGTTTGGAGGAC	0.348																																						ENST00000316752.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22						c.(808-810)aaC>aaA		pseudouridylate synthase 10							192.0	204.0	200.0					2																	61188662		2203	4300	6503	SO:0001583	missense	150962				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr2:61188662G>T	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.810C>A	2.37:g.61188662G>T	ENSP00000326003:p.Asn270Lys					PUS10_ENST00000407787.1_Missense_Mutation_p.N270K	p.N270K	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)		10	1071	-			270					Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	37	c.810C>A	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292832	0.23564	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	.	.	.	5.91	1.52	0.23074	.	0.450310	0.26546	N	0.023777	T	0.25457	0.0619	N	0.16066	0.365	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.16512	-1.0400	9	0.05620	T	0.96	-0.2207	6.3797	0.21527	0.3134:0.1406:0.546:0.0	.	270;270	A8K6R4;Q3MIT2	.;PUS10_HUMAN	K	270	.	ENSP00000326003:N270K	N	-	3	2	PUS10	61042166	0.980000	0.34600	0.999000	0.59377	0.999000	0.98932	0.330000	0.19715	0.381000	0.24851	0.650000	0.86243	AAC		0.348	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709		18	316	1	0	8.00594e-06	1	8.47045e-06	18	316				
AIFM1	9131	broad.mit.edu	37	X	129270650	129270650	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:129270650T>C	ENST00000287295.3	-	11	1362	c.1132A>G	c.(1132-1134)Aag>Gag	p.K378E	AIFM1_ENST00000440263.1_Missense_Mutation_p.K26E|AIFM1_ENST00000460436.2_Missense_Mutation_p.K39E|AIFM1_ENST00000319908.3_Missense_Mutation_p.K374E|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000346424.2_Missense_Mutation_p.K91E	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	378	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	ATAAGTAACTTGCCACTGCTG	0.483																																						ENST00000287295.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(1132-1134)Aag>Gag		apoptosis-inducing factor, mitochondrion-associated, 1							155.0	107.0	123.0					X																	129270650		2203	4300	6503	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129270650T>C	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1132A>G	X.37:g.129270650T>C	ENSP00000287295:p.Lys378Glu					AIFM1_ENST00000440263.1_Missense_Mutation_p.K26E|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Missense_Mutation_p.K374E|AIFM1_ENST00000346424.2_Missense_Mutation_p.K91E|AIFM1_ENST00000460436.2_Missense_Mutation_p.K39E	p.K378E	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN			11	1362	-			378			FAD-dependent oxidoreductase (By similarity).		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.1132A>G	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180652	0.57800	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;T;T;T	0.58358	0.85;0.83;0.34;0.86;0.34	5.03	5.03	0.67393	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.324985	0.35124	N	0.003435	T	0.56572	0.1994	M	0.81239	2.535	0.80722	D	1	B;B;B	0.20164	0.033;0.034;0.042	B;B;B	0.32805	0.085;0.153;0.115	T	0.54794	-0.8240	10	0.27785	T	0.31	-3.4991	10.2839	0.43556	0.0:0.0:0.2253:0.7747	.	91;374;378	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	E	39;91;374;26;378	ENSP00000431222:K39E;ENSP00000316320:K91E;ENSP00000315122:K374E;ENSP00000405879:K26E;ENSP00000287295:K378E	ENSP00000287295:K378E	K	-	1	0	AIFM1	129098331	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.657000	0.54474	1.855000	0.53841	0.481000	0.45027	AAG		0.483	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			7	626	0	0	0	1	0	7	626				
SEMA5B	54437	broad.mit.edu	37	3	122667400	122667400	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:122667400T>G	ENST00000357599.3	-	3	667	c.281A>C	c.(280-282)gAg>gCg	p.E94A	SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000451055.2_Missense_Mutation_p.E148A|SEMA5B_ENST00000195173.4_Missense_Mutation_p.E94A	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	94					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGCTGCTGCTCACTGCTGGG	0.612																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(280-282)gAg>gCg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							58.0	50.0	52.0					3																	122667400		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122667400T>G	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.281A>C	3.37:g.122667400T>G	ENSP00000350215:p.Glu94Ala					SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000357599.3_Missense_Mutation_p.E94A|SEMA5B_ENST00000451055.2_Missense_Mutation_p.E148A	p.E94A			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	3	584	-			94					A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.281A>C	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.204701	0.79127	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583;ENST00000421053	T;T;T;T	0.35236	1.33;1.32;1.39;1.43	4.94	4.94	0.65067	.	0.000000	0.53938	D	0.000060	T	0.43366	0.1244	N	0.19112	0.55	0.38520	D	0.948703	D;P;D	0.63880	0.974;0.956;0.993	D;D;D	0.70935	0.969;0.931;0.971	T	0.50466	-0.8825	10	0.66056	D	0.02	.	12.8554	0.57882	0.0:0.0:0.0:1.0	.	36;94;94	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	A	94;94;36;148;94;94	ENSP00000350215:E94A;ENSP00000195173:E94A;ENSP00000389588:E148A;ENSP00000377208:E94A	ENSP00000195173:E94A	E	-	2	0	SEMA5B	124150090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.439000	0.59968	2.195000	0.70347	0.533000	0.62120	GAG		0.612	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		5	245	0	0	0	1	0	5	245				
TLR7	51284	broad.mit.edu	37	X	12885598	12885598	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:12885598A>T	ENST00000380659.3	+	2	41		c.e2-1		TLR7_ENST00000484204.1_3'UTR	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7						cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TCTTTCTCTTAGTTGATGCTA	0.388																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.e2-1		toll-like receptor 7	Imiquimod(DB00724)																																			SO:0001630	splice_region_variant	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12885598A>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.-98-1A>T	X.37:g.12885598A>T						TLR7_ENST00000484204.1_3'UTR		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			2	41	+								D1CS69|Q9NR98	Splice_Site	SNP	ENST00000380659.3	37		CCDS14151.1																																																																																				0.388	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562	Intron	5	235	0	0	0	1	0	5	235				
RBM23	55147	broad.mit.edu	37	14	23374870	23374870	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:23374870T>A	ENST00000359890.3	-	6	597		c.e6-2		RBM23_ENST00000542016.2_Splice_Site|RBM23_ENST00000555209.1_Intron|RBM23_ENST00000346528.5_Intron|RBM23_ENST00000399922.2_Splice_Site|RBM23_ENST00000556984.1_5'Flank	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23						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)		TACCTATAACTAAAGAATAGA	0.398																																						ENST00000359890.3																			0				endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10						c.e6-2		RNA binding motif protein 23							62.0	54.0	57.0					14																	23374870		1844	4094	5938	SO:0001630	splice_region_variant	55147				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr14:23374870T>A	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.402-2A>T	14.37:g.23374870T>A						RBM23_ENST00000346528.5_Intron|RBM23_ENST00000399922.2_Splice_Site|RBM23_ENST00000542016.2_Splice_Site|RBM23_ENST00000555209.1_Intron		NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN		GBM - Glioblastoma multiforme(265;0.0128)	6	597	-	all_cancers(95;4.69e-05)							D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Splice_Site	SNP	ENST00000359890.3	37		CCDS41921.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.257327	0.39896	.	.	ENSG00000100461	ENST00000359890;ENST00000338980;ENST00000399922	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8912	0.63740	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBM23	22444710	0.981000	0.34729	0.241000	0.24154	0.005000	0.04900	3.891000	0.56227	2.179000	0.69175	0.533000	0.62120	.		0.398	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3		Intron	4	100	0	0	0	1	0	4	100				
XPO6	23214	broad.mit.edu	37	16	28133022	28133022	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:28133022G>A	ENST00000304658.5	-	14	2328	c.1828C>T	c.(1828-1830)Cca>Tca	p.P610S	XPO6_ENST00000565698.1_Missense_Mutation_p.P596S	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	610					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AATACTGATGGCACAGCAGTT	0.393																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1828-1830)Cca>Tca		exportin 6							183.0	175.0	177.0					16																	28133022		1899	4126	6025	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28133022G>A	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1828C>T	16.37:g.28133022G>A	ENSP00000302790:p.Pro610Ser					XPO6_ENST00000565698.1_Missense_Mutation_p.P596S	p.P610S	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			14	2328	-			610					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.1828C>T	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073730	0.94000	.	.	ENSG00000169180	ENST00000304658	T	0.49432	0.78	5.76	5.76	0.90799	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67192	0.2867	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.984;1.0	P;D	0.91635	0.833;0.999	T	0.66085	-0.6011	10	0.51188	T	0.08	-8.1896	17.4796	0.87669	0.0:0.0:1.0:0.0	.	610;610	B7ZM10;Q96QU8	.;XPO6_HUMAN	S	610	ENSP00000302790:P610S	ENSP00000302790:P610S	P	-	1	0	XPO6	28040523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.599000	0.98280	2.706000	0.92434	0.655000	0.94253	CCA		0.393	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		7	458	0	0	0	1	0	7	458				
FDCSP	260436	broad.mit.edu	37	4	71099902	71099902	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:71099902T>A	ENST00000317987.5	+	4	368	c.256T>A	c.(256-258)Taa>Aaa	p.*86K		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	0						extracellular region (GO:0005576)											TAGCGAAAAGTAAACAAGAAG	0.358																																						ENST00000317987.5																			0											c.(256-258)Taa>Aaa		follicular dendritic cell secreted protein							87.0	79.0	82.0					4																	71099902		2203	4299	6502	SO:0001578	stop_lost	260436					extracellular region		g.chr4:71099902T>A	AF435080	CCDS3537.1	4q13	2011-12-12	2011-12-12	2011-12-12	ENSG00000181617	ENSG00000181617			19215	protein-coding gene	gene with protein product		607241	"""chromosome 4 open reading frame 7"""	C4orf7		12193705, 17548624, 20811673	Standard	NM_152997		Approved	FDC-SP	uc003hfd.3	Q8NFU4	OTTHUMG00000129393	ENST00000317987.5:c.256T>A	4.37:g.71099902T>A	ENSP00000318437:p.*86Lysext*34						p.*86K	NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN			4	368	+			0						Nonstop_Mutation	SNP	ENST00000317987.5	37	c.256T>A	CCDS3537.1	.	.	.	.	.	.	.	.	.	.	T	2.727	-0.265360	0.05754	.	.	ENSG00000181617	ENST00000317987	.	.	.	3.9	1.37	0.22104	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1418	0.31089	0.0:0.0:0.4086:0.5914	.	.	.	.	K	86	.	.	X	+	1	0	C4orf7	71134491	0.091000	0.21658	0.003000	0.11579	0.002000	0.02628	1.023000	0.30065	0.311000	0.23014	-0.321000	0.08615	TAA		0.358	FDCSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251549.1	NM_152997		4	110	0	0	0	1	0	4	110				
ARID5B	84159	broad.mit.edu	37	10	63851221	63851221	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:63851221A>C	ENST00000279873.7	+	10	2409	c.1999A>C	c.(1999-2001)Aac>Cac	p.N667H	ARID5B_ENST00000309334.5_Missense_Mutation_p.N424H	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	667					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)	p.N667H(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGGGCCCATGAACGAGAACCA	0.527																																						ENST00000279873.7																			1	Substitution - Missense(1)	p.N667H(1)	kidney(1)	NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1999-2001)Aac>Cac		AT rich interactive domain 5B (MRF1-like)							67.0	58.0	61.0					10																	63851221		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63851221A>C	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1999A>C	10.37:g.63851221A>C	ENSP00000279873:p.Asn667His					ARID5B_ENST00000309334.5_Missense_Mutation_p.N424H	p.N667H	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			10	2409	+	Prostate(12;0.016)|all_hematologic(501;0.215)		667					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.1999A>C	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	8.710	0.911888	0.17907	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.46063	0.88;0.88	5.57	4.39	0.52855	.	0.283649	0.38217	N	0.001768	T	0.26122	0.0637	N	0.13043	0.29	0.35733	D	0.818097	B	0.13145	0.007	B	0.08055	0.003	T	0.21109	-1.0255	10	0.30078	T	0.28	-22.8987	13.2201	0.59883	0.8243:0.1756:0.0:0.0	.	667	Q14865	ARI5B_HUMAN	H	667;424	ENSP00000279873:N667H;ENSP00000308862:N424H	ENSP00000279873:N667H	N	+	1	0	ARID5B	63521227	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	3.722000	0.54948	2.242000	0.73789	0.533000	0.62120	AAC		0.527	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		5	122	0	0	0	1	0	5	122				
ASB8	140461	broad.mit.edu	37	12	48543559	48543559	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:48543559T>C	ENST00000317697.3	-	4	626	c.457A>G	c.(457-459)Aca>Gca	p.T153A	ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.T153A	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	153					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						CTGAGCGGTGTATCATTGTTG	0.527																																						ENST00000317697.3																			0				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						c.(457-459)Aca>Gca		ankyrin repeat and SOCS box containing 8							75.0	71.0	72.0					12																	48543559		2203	4300	6503	SO:0001583	missense	140461				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48543559T>C	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.457A>G	12.37:g.48543559T>C	ENSP00000320893:p.Thr153Ala					ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.T153A|ASB8_ENST00000537754.1_5'UTR	p.T153A	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN			4	626	-			153					A8K1P2|Q547Q2	Missense_Mutation	SNP	ENST00000317697.3	37	c.457A>G	CCDS8761.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794876	0.90453	.	.	ENSG00000177981	ENST00000317697;ENST00000536549;ENST00000446549	T;T	0.79033	-1.23;-1.23	5.05	5.05	0.67936	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.88149	0.6359	M	0.80183	2.485	0.80722	D	1	P	0.50528	0.936	D	0.72338	0.977	D	0.89798	0.3973	10	0.87932	D	0	-16.329	14.7809	0.69766	0.0:0.0:0.0:1.0	.	153	Q9H765	ASB8_HUMAN	A	153;153;120	ENSP00000320893:T153A;ENSP00000445622:T153A	ENSP00000320893:T153A	T	-	1	0	ASB8	46829826	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.430000	0.80321	2.048000	0.60808	0.459000	0.35465	ACA		0.527	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			9	564	0	0	0	1	0	9	564				
PEG3	5178	broad.mit.edu	37	19	57335855	57335855	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:57335855A>T	ENST00000326441.9	-	4	532	c.169T>A	c.(169-171)Ttt>Att	p.F57I	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_5'UTR|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000593931.1_5'Flank|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.F57I|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Intron|PEG3_ENST00000594706.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	57	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.F57I(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGCCCAACAAATTCCACATAG	0.502																																						ENST00000326441.9																			2	Substitution - Missense(2)	p.F57I(2)	kidney(2)	NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(169-171)Ttt>Att		paternally expressed 3							80.0	79.0	80.0					19																	57335855		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57335855A>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.169T>A	19.37:g.57335855A>T	ENSP00000326581:p.Phe57Ile					PEG3_ENST00000594706.1_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.F57I|ZIM2_ENST00000391708.3_5'UTR|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000221722.5_Intron	p.F57I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	4	532	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	57			SCAN box.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.169T>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.940712	0.73557	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.04083	3.71;3.71	5.05	1.48	0.22813	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.363557	0.20365	N	0.093768	T	0.02193	0.0068	N	0.22421	0.69	.	.	.	P	0.39862	0.692	B	0.28232	0.087	T	0.43410	-0.9393	9	0.15952	T	0.53	-12.0807	5.2426	0.15479	0.5551:0.3511:0.0938:0.0	.	57	Q9GZU2	PEG3_HUMAN	I	57	ENSP00000326581:F57I;ENSP00000403051:F57I	ENSP00000292074:F57I	F	-	1	0	ZIM2	62027667	0.000000	0.05858	0.892000	0.35008	0.989000	0.77384	0.206000	0.17375	0.424000	0.26061	0.533000	0.62120	TTT		0.502	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			6	34	0	0	0	1	0	6	34				
OR2AG1	144125	broad.mit.edu	37	11	6806623	6806623	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:6806623G>A	ENST00000307401.4	+	1	376	c.355G>A	c.(355-357)Gcc>Acc	p.A119T		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	119						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)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCCTTCATGGCCTATGACAG	0.552																																						ENST00000307401.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(355-357)Gcc>Acc		olfactory receptor, family 2, subfamily AG, member 1							99.0	87.0	91.0					11																	6806623		2201	4296	6497	SO:0001583	missense	144125				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6806623G>A	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.355G>A	11.37:g.6806623G>A	ENSP00000307447:p.Ala119Thr						p.A119T	NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	376	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	119					B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	ENST00000307401.4	37	c.355G>A	CCDS31414.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617318	0.87359	.	.	ENSG00000170803	ENST00000307401	T	0.54071	0.59	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000175	T	0.79528	0.4461	H	0.95982	3.75	0.48830	D	0.999718	D	0.89917	1.0	D	0.70016	0.967	D	0.86259	0.1654	10	0.87932	D	0	.	13.7659	0.62995	0.0:0.0:1.0:0.0	.	119	Q9H205	O2AG1_HUMAN	T	119	ENSP00000307447:A119T	ENSP00000307447:A119T	A	+	1	0	OR2AG1	6763199	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.153000	0.71819	2.171000	0.68590	0.591000	0.81541	GCC		0.552	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		6	485	0	0	0	1	0	6	485				
OR2J3	442186	broad.mit.edu	37	6	29079780	29079780	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:29079780A>T	ENST00000377169.1	+	1	113	c.113A>T	c.(112-114)tAc>tTc	p.Y38F		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTGATCTTCTACTTGATGACA	0.403																																						ENST00000377169.1																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(112-114)tAc>tTc		olfactory receptor, family 2, subfamily J, member 3							272.0	286.0	282.0					6																	29079780		1291	2581	3872	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29079780A>T		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.113A>T	6.37:g.29079780A>T	ENSP00000366374:p.Tyr38Phe						p.Y38F	NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN			1	113	+			38					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.113A>T	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613019	0.46631	.	.	ENSG00000204701	ENST00000377169	T	0.04406	3.63	2.78	2.78	0.32641	.	.	.	.	.	T	0.13884	0.0336	M	0.87758	2.905	0.43761	D	0.996277	D	0.89917	1.0	D	0.75020	0.985	T	0.01269	-1.1400	9	0.87932	D	0	.	10.804	0.46507	1.0:0.0:0.0:0.0	.	38	O76001	OR2J3_HUMAN	F	38	ENSP00000366374:Y38F	ENSP00000366374:Y38F	Y	+	2	0	OR2J3	29187759	0.995000	0.38212	0.965000	0.40720	0.156000	0.22039	3.981000	0.56902	1.268000	0.44264	0.358000	0.22013	TAC		0.403	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			6	305	0	0	0	1	0	6	305				
NXPE3	91775	broad.mit.edu	37	3	101535690	101535690	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:101535690A>T	ENST00000491511.2	+	7	1930	c.974A>T	c.(973-975)tAt>tTt	p.Y325F	NXPE3_ENST00000422132.1_Missense_Mutation_p.Y325F|NXPE3_ENST00000477909.1_Missense_Mutation_p.Y325F|NXPE3_ENST00000273347.5_Missense_Mutation_p.Y325F	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	325						extracellular region (GO:0005576)											CCTTCTGGGTATTATTATAAA	0.353																																						ENST00000422132.1																			0											c.(973-975)tAt>tTt		neurexophilin and PC-esterase domain family, member 3							74.0	77.0	76.0					3																	101535690		2203	4300	6503	SO:0001583	missense	91775							g.chr3:101535690A>T	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.974A>T	3.37:g.101535690A>T	ENSP00000417485:p.Tyr325Phe					NXPE3_ENST00000491511.1_Missense_Mutation_p.Y325F|NXPE3_ENST00000273347.5_Missense_Mutation_p.Y325F|NXPE3_ENST00000477909.1_Missense_Mutation_p.Y325F	p.Y325F							4	1171	+								A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	c.974A>T	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.779564	0.31502	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.86	5.86	0.93980	.	0.106561	0.64402	D	0.000003	T	0.09992	0.0245	N	0.20610	0.595	0.50467	D	0.999874	B	0.23490	0.086	B	0.22386	0.039	T	0.20042	-1.0287	10	0.10902	T	0.67	-12.9205	16.5602	0.84551	1.0:0.0:0.0:0.0	.	325	Q969Y0	FA55C_HUMAN	F	325	ENSP00000273347:Y325F;ENSP00000417485:Y325F;ENSP00000418369:Y325F;ENSP00000396421:Y325F	ENSP00000273347:Y325F	Y	+	2	0	FAM55C	103018380	1.000000	0.71417	0.994000	0.49952	0.950000	0.60333	4.222000	0.58580	2.367000	0.80283	0.528000	0.53228	TAT		0.353	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		5	131	0	0	0	1	0	5	131				
L1CAM	3897	broad.mit.edu	37	X	153134332	153134332	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:153134332C>A	ENST00000370060.1	-	12	1532	c.1343G>T	c.(1342-1344)tGc>tTc	p.C448F	L1CAM_ENST00000370055.1_Missense_Mutation_p.C443F|L1CAM_ENST00000370057.3_Missense_Mutation_p.C448F|L1CAM_ENST00000538883.1_Missense_Mutation_p.C450F|L1CAM_ENST00000361981.3_Missense_Mutation_p.C443F|L1CAM_ENST00000543994.1_Missense_Mutation_p.C450F|L1CAM_ENST00000361699.4_Missense_Mutation_p.C448F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	448	Ig-like C2-type 5.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGCCTTGCACAGAAGGTA	0.612																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1342-1344)tGc>tTc		L1 cell adhesion molecule							184.0	139.0	154.0					X																	153134332		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153134332C>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1343G>T	X.37:g.153134332C>A	ENSP00000359077:p.Cys448Phe					L1CAM_ENST00000543994.1_Missense_Mutation_p.C450F|L1CAM_ENST00000538883.1_Missense_Mutation_p.C450F|L1CAM_ENST00000370057.3_Missense_Mutation_p.C448F|L1CAM_ENST00000361981.3_Missense_Mutation_p.C443F|L1CAM_ENST00000370055.1_Missense_Mutation_p.C443F|L1CAM_ENST00000361699.4_Missense_Mutation_p.C448F	p.C448F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			12	1532	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		448			Ig-like C2-type 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1343G>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509584	0.44660	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.67	4.8	0.61643	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.96528	0.8867	H	0.98446	4.235	0.80722	D	1	D;D;D	0.60160	0.984;0.969;0.987	D;D;D	0.67382	0.918;0.918;0.951	D	0.97472	1.0041	10	0.87932	D	0	.	14.1267	0.65225	0.1512:0.8488:0.0:0.0	.	443;448;448	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	F	448;450;448;450;443;443;448	ENSP00000359077:C448F;ENSP00000438430:C450F;ENSP00000359074:C448F;ENSP00000439645:C450F;ENSP00000354712:C443F;ENSP00000359072:C443F;ENSP00000355380:C448F	ENSP00000355380:C448F	C	-	2	0	L1CAM	152787526	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	5.332000	0.65911	1.162000	0.42619	0.529000	0.55759	TGC		0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		3	71	1	0	0.004672	1	0.00473307	3	71				
CEP192	55125	broad.mit.edu	37	18	13056591	13056591	+	Silent	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:13056591T>C	ENST00000325971.8	+	17	3807	c.2214T>C	c.(2212-2214)aaT>aaC	p.N738N	CEP192_ENST00000430049.2_Silent_p.N859N|CEP192_ENST00000506447.1_Silent_p.N1334N			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	738					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CATATTCTAATACCTTAAATC	0.458																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4000-4002)aaT>aaC		centrosomal protein 192kDa							124.0	125.0	124.0					18																	13056591		2203	4300	6503	SO:0001819	synonymous_variant	55125							g.chr18:13056591T>C	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2214T>C	18.37:g.13056591T>C						CEP192_ENST00000325971.8_Silent_p.N738N|CEP192_ENST00000430049.2_Silent_p.N859N	p.N1334N	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			19	4082	+			929					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37	c.4002T>C																																																																																					0.458	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		6	627	0	0	0	1	0	6	627				
KIAA2018	205717	broad.mit.edu	37	3	113379013	113379013	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:113379013T>C	ENST00000478658.1	-	5	1533	c.1516A>G	c.(1516-1518)Atg>Gtg	p.M506V	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.M506V			Q68DE3	K2018_HUMAN	KIAA2018	506						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.M506V(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AGTGGCTGCATAGGTAAAGAT	0.438																																						ENST00000316407.4																			1	Substitution - Missense(1)	p.M506V(1)	kidney(1)	NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(1516-1518)Atg>Gtg		KIAA2018							67.0	69.0	69.0					3																	113379013		1968	4164	6132	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113379013T>C	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1516A>G	3.37:g.113379013T>C	ENSP00000420721:p.Met506Val					KIAA2018_ENST00000478658.1_Missense_Mutation_p.M506V|KIAA2018_ENST00000491165.1_Intron	p.M506V	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	1926	-			506					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.1516A>G	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	T	5.686	0.311215	0.10789	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.14022	2.54;2.54	5.2	2.85	0.33270	.	0.184155	0.48767	D	0.000177	T	0.06234	0.0161	N	0.17082	0.46	0.34861	D	0.742646	B	0.02656	0.0	B	0.04013	0.001	T	0.30446	-0.9978	10	0.05721	T	0.95	-4.4271	7.5634	0.27864	0.0:0.2343:0.0:0.7657	.	506	Q68DE3	K2018_HUMAN	V	506	ENSP00000320794:M506V;ENSP00000420721:M506V	ENSP00000320794:M506V	M	-	1	0	KIAA2018	114861703	0.984000	0.35163	1.000000	0.80357	0.986000	0.74619	0.252000	0.18278	0.819000	0.34492	0.455000	0.32223	ATG		0.438	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		31	47	0	0	0	1	0	31	47				
CTDSPL2	51496	broad.mit.edu	37	15	44751243	44751243	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:44751243C>A	ENST00000260327.4	+	2	594	c.31C>A	c.(31-33)Cag>Aag	p.Q11K	CTDSPL2_ENST00000396780.1_Missense_Mutation_p.Q11K|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.Q11K|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.Q11K	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	11							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)		AGCTTCTCAGCAGTCAAATCA	0.363																																						ENST00000260327.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13						c.(31-33)Cag>Aag		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2							85.0	86.0	86.0					15																	44751243		2198	4298	6496	SO:0001583	missense	51496						phosphoprotein phosphatase activity	g.chr15:44751243C>A	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.31C>A	15.37:g.44751243C>A	ENSP00000260327:p.Gln11Lys					CTDSPL2_ENST00000558966.1_Missense_Mutation_p.Q11K|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.Q11K|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.Q11K	p.Q11K	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	594	+		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)	11					Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	ENST00000260327.4	37	c.31C>A	CCDS10110.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874944	0.72180	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	T;T	0.79033	-1.23;-1.23	5.42	5.42	0.78866	.	0.167420	0.56097	N	0.000034	D	0.82793	0.5114	L	0.34521	1.04	0.58432	D	0.999998	P;B	0.43578	0.811;0.376	P;B	0.60789	0.879;0.06	T	0.82882	-0.0237	10	0.51188	T	0.08	-7.9245	19.2302	0.93834	0.0:1.0:0.0:0.0	.	11;11	Q05D32-2;Q05D32	.;CTSL2_HUMAN	K	11	ENSP00000260327:Q11K;ENSP00000380000:Q11K	ENSP00000260327:Q11K	Q	+	1	0	CTDSPL2	42538535	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.438000	0.80431	2.534000	0.85438	0.650000	0.86243	CAG		0.363	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396		6	77	1	0	0.00116845	1	0.00120338	6	77				
ZKSCAN5	23660	broad.mit.edu	37	7	99129590	99129590	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:99129590A>T	ENST00000394170.2	+	7	2489	c.2238A>T	c.(2236-2238)caA>caT	p.Q746H	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.Q746H|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.Q746H	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	746					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGCCCTATCAATGTGATATAT	0.408																																						ENST00000394170.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(2236-2238)caA>caT		zinc finger with KRAB and SCAN domains 5							91.0	91.0	91.0					7																	99129590		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99129590A>T	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.2238A>T	7.37:g.99129590A>T	ENSP00000377725:p.Gln746His					ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.Q746H|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.Q746H	p.Q746H	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			7	2489	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		746					A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.2238A>T	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.598578	0.28445	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.07688	3.17;3.17;3.17	4.93	-0.167	0.13347	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.021290	0.07798	N	0.956035	T	0.10809	0.0264	L	0.54323	1.7	0.09310	N	0.999999	B;B	0.30741	0.293;0.293	B;B	0.38428	0.273;0.273	T	0.43294	-0.9400	10	0.54805	T	0.06	.	4.0442	0.09764	0.6028:0.0:0.2514:0.1457	.	746;746	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	H	746	ENSP00000322872:Q746H;ENSP00000392104:Q746H;ENSP00000377725:Q746H	ENSP00000322872:Q746H	Q	+	3	2	ZKSCAN5	98967526	0.000000	0.05858	0.073000	0.20177	0.933000	0.57130	-0.677000	0.05215	-0.095000	0.12351	-0.250000	0.11733	CAA		0.408	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		5	262	0	0	0	1	0	5	262				
LARGE	9215	broad.mit.edu	37	22	33670590	33670590	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:33670590C>T	ENST00000354992.2	-	16	2665	c.2094G>A	c.(2092-2094)ctG>ctA	p.L698L	LARGE_ENST00000437602.2_Silent_p.L649L|LARGE_ENST00000397394.2_Silent_p.L698L|LARGE_ENST00000452586.2_Silent_p.L497L|LARGE_ENST00000337431.2_Silent_p.L646L|LARGE_ENST00000402320.1_Silent_p.L646L	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	698					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGGCGTTGGGCAGCACAATGA	0.512											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(70;397 1175 4573 19089 45288)	ENST00000354992.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2092-2094)ctG>ctA		like-glycosyltransferase							114.0	95.0	101.0					22																	33670590		2203	4300	6503	SO:0001819	synonymous_variant	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33670590C>T	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.2094G>A	22.37:g.33670590C>T			OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	LARGE_ENST00000397394.2_Silent_p.L698L|LARGE_ENST00000452586.2_Silent_p.L497L|LARGE_ENST00000337431.2_Silent_p.L646L|LARGE_ENST00000437602.2_Silent_p.L649L|LARGE_ENST00000402320.1_Silent_p.L646L	p.L698L	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN			16	2665	-		Lung NSC(1;0.219)	698					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	c.2094G>A	CCDS13912.1																																																																																				0.512	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		4	137	0	0	0	1	0	4	137				
KNSTRN	90417	broad.mit.edu	37	15	40681788	40681788	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:40681788G>A	ENST00000249776.8	+	5	682	c.567G>A	c.(565-567)ttG>ttA	p.L189L	KNSTRN_ENST00000416151.2_Silent_p.L189L|KNSTRN_ENST00000608100.1_Silent_p.L111L|KNSTRN_ENST00000448395.2_Silent_p.L189L	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		ACAAGCAGTTGCACCAGAAGT	0.488																																						ENST00000416151.2																			0											c.(565-567)ttG>ttA		kinetochore-localized astrin/SPAG5 binding protein							81.0	81.0	81.0					15																	40681788		1905	4139	6044	SO:0001819	synonymous_variant	90417							g.chr15:40681788G>A	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.567G>A	15.37:g.40681788G>A						KNSTRN_ENST00000448395.2_Silent_p.L189L|KNSTRN_ENST00000249776.8_Silent_p.L189L	p.L189L	NM_001142761.1	NP_001136233.1					5	682	+									Silent	SNP	ENST00000249776.8	37	c.567G>A	CCDS42021.1																																																																																				0.488	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		6	152	0	0	0	1	0	6	152				
PRKCA	5578	broad.mit.edu	37	17	64800132	64800132	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:64800132C>T	ENST00000413366.3	+	17	2022	c.1996C>T	c.(1996-1998)Ccc>Tcc	p.P666S		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	666	AGC-kinase C-terminal.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|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 inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	GTTTGTGCACCCCATCTTACA	0.507																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1996-1998)Ccc>Tcc		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						136.0	115.0	122.0					17																	64800132		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64800132C>T		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1996C>T	17.37:g.64800132C>T	ENSP00000408695:p.Pro666Ser						p.P666S	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		17	2022	+			666			AGC-kinase C-terminal.		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.1996C>T	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699219	0.48307	.	.	ENSG00000154229	ENST00000413366	T	0.69306	-0.39	5.57	5.57	0.84162	AGC-kinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	L	0.39245	1.2	0.51482	D	0.999924	B	0.11235	0.004	B	0.06405	0.002	T	0.50939	-0.8768	10	0.21540	T	0.41	.	14.3986	0.67027	0.1476:0.8524:0.0:0.0	.	666	P17252	KPCA_HUMAN	S	666	ENSP00000408695:P666S	ENSP00000408695:P666S	P	+	1	0	PRKCA	62230594	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.405000	0.59741	2.621000	0.88768	0.655000	0.94253	CCC		0.507	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			10	41	0	0	0	1	0	10	41				
ANK2	287	broad.mit.edu	37	4	114278167	114278167	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:114278167G>T	ENST00000357077.4	+	38	8446	c.8393G>T	c.(8392-8394)gGt>gTt	p.G2798V	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G2765V|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2798					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)			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)		AGTCCGACTGGTGATGATGTT	0.468																																						ENST00000357077.4																			0				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.(8392-8394)gGt>gTt		ankyrin 2, neuronal							84.0	79.0	81.0					4																	114278167		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114278167G>T	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.8393G>T	4.37:g.114278167G>T	ENSP00000349588:p.Gly2798Val					ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G2765V|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	p.G2798V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8446	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2765					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.8393G>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	9.752	1.167753	0.21621	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.67523	-0.27;-0.27	5.76	-0.266	0.12942	.	1.224860	0.05765	N	0.605650	T	0.53465	0.1798	L	0.29908	0.895	0.09310	N	1	B;B	0.26845	0.047;0.161	B;B	0.29785	0.036;0.107	T	0.36359	-0.9751	9	.	.	.	.	7.4864	0.27437	0.2483:0.2034:0.5484:0.0	.	2765;2798	Q01484;Q01484-4	ANK2_HUMAN;.	V	2798;2765	ENSP00000349588:G2798V;ENSP00000264366:G2765V	.	G	+	2	0	ANK2	114497616	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.061000	0.11693	-0.408000	0.07565	-0.797000	0.03246	GGT		0.468	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		29	294	1	0	2.09667e-21	1	2.40728e-21	29	294				
CRB1	23418	broad.mit.edu	37	1	197390735	197390735	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:197390735G>A	ENST00000367400.3	+	6	1912	c.1777G>A	c.(1777-1779)Gcg>Acg	p.A593T	CRB1_ENST00000544212.1_Missense_Mutation_p.A74T|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.A524T|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.A481T|CRB1_ENST00000538660.1_Missense_Mutation_p.A593T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	593	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A593T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GAAATGCATCGCGAAAGCTCC	0.468																																						ENST00000367400.3																			1	Substitution - Missense(1)	p.A593T(1)	kidney(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1777-1779)Gcg>Acg		crumbs homolog 1 (Drosophila)							117.0	111.0	113.0					1																	197390735		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390735G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1777G>A	1.37:g.197390735G>A	ENSP00000356370:p.Ala593Thr					CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.A593T|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.A481T|CRB1_ENST00000535699.1_Missense_Mutation_p.A524T|CRB1_ENST00000544212.1_Missense_Mutation_p.A74T	p.A593T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			6	1912	+			593			Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1777G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.650083	0.00785	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367401	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.84	-11.7	0.00046	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.33000	0.0848	N	0.00419	-1.52	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.001;0.001;0.0;0.002	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.002	T	0.31420	-0.9944	9	0.08381	T	0.77	.	7.7285	0.28773	0.5034:0.0715:0.3537:0.0714	.	593;524;481;242;593	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	T	524;593;593;481;74;242	ENSP00000438786:A524T;ENSP00000438091:A593T;ENSP00000356370:A593T;ENSP00000356369:A481T;ENSP00000444556:A74T	ENSP00000356369:A481T	A	+	1	0	CRB1	195657358	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.054000	0.11826	-2.928000	0.00302	-2.912000	0.00091	GCG		0.468	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		8	430	0	0	0	1	0	8	430				
APCDD1	147495	broad.mit.edu	37	18	10468476	10468476	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:10468476G>A	ENST00000355285.5	+	2	423	c.69G>A	c.(67-69)gaG>gaA	p.E23E	APCDD1_ENST00000578882.1_Silent_p.E23E	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GGCTGGGAGAGGGTTCTGCCC	0.502																																						ENST00000355285.4																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(67-69)gaG>gaA		adenomatosis polyposis coli down-regulated 1							150.0	154.0	152.0					18																	10468476		2203	4300	6503	SO:0001819	synonymous_variant	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10468476G>A	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.69G>A	18.37:g.10468476G>A						APCDD1_ENST00000578882.1_Silent_p.E23E	p.E23E	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	2	423	+			23						Silent	SNP	ENST00000355285.5	37	c.69G>A	CCDS11849.1																																																																																				0.502	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		4	86	0	0	0	1	0	4	86				
TMEM145	284339	broad.mit.edu	37	19	42819403	42819403	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:42819403A>T	ENST00000301204.3	+	7	610	c.569A>T	c.(568-570)tAc>tTc	p.Y190F	TMEM145_ENST00000598766.1_Missense_Mutation_p.Y214F	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	190					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.Y190F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ctctcttGTTACTTTGGATGT	0.537																																						ENST00000598766.1																			1	Substitution - Missense(1)	p.Y190F(1)	lung(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(640-642)tAc>tTc		transmembrane protein 145							183.0	159.0	167.0					19																	42819403		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42819403A>T	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.569A>T	19.37:g.42819403A>T	ENSP00000301204:p.Tyr190Phe					TMEM145_ENST00000301204.3_Missense_Mutation_p.Y190F	p.Y214F			Q8NBT3	TM145_HUMAN			7	641	+		Prostate(69;0.00682)	190						Missense_Mutation	SNP	ENST00000301204.3	37	c.641A>T	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705338	0.48412	.	.	ENSG00000167619	ENST00000301204	T	0.42131	0.98	4.2	4.2	0.49525	Rhodopsin-like GPCR transmembrane domain (1);	0.168624	0.39985	N	0.001204	T	0.34221	0.0890	L	0.53249	1.67	0.47476	D	0.999434	B	0.34181	0.44	B	0.32342	0.144	T	0.10268	-1.0637	10	0.21540	T	0.41	-4.2249	9.9465	0.41611	1.0:0.0:0.0:0.0	.	190	Q8NBT3	TM145_HUMAN	F	190	ENSP00000301204:Y190F	ENSP00000301204:Y190F	Y	+	2	0	TMEM145	47511243	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.918000	0.63376	1.658000	0.50742	0.374000	0.22700	TAC		0.537	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		6	199	0	0	0	1	0	6	199				
TRIM33	51592	broad.mit.edu	37	1	114948383	114948383	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:114948383T>A	ENST00000358465.2	-	15	2502		c.e15-2		TRIM33_ENST00000450349.2_Splice_Site|TRIM33_ENST00000476908.1_Splice_Site|TRIM33_ENST00000369543.2_Splice_Site	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33						gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTGCTCAACTAAAACAAAAC	0.363			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.e15-2		tripartite motif containing 33							64.0	66.0	65.0					1																	114948383		2203	4300	6503	SO:0001630	splice_region_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114948383T>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2419-2A>T	1.37:g.114948383T>A						TRIM33_ENST00000450349.2_Splice_Site|TRIM33_ENST00000476908.1_Splice_Site|TRIM33_ENST00000369543.2_Splice_Site		NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2502	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)						O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Splice_Site	SNP	ENST00000358465.2	37		CCDS872.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.789552	0.70337	.	.	ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000448034;ENST00000450349	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.521	0.75866	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIM33	114749906	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.938000	0.75904	2.130000	0.65690	0.402000	0.26972	.		0.363	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906	Intron	7	128	0	0	0	1	0	7	128				
FGF7	2252	broad.mit.edu	37	15	49716573	49716573	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:49716573A>T	ENST00000267843.4	+	2	690	c.79A>T	c.(79-81)Act>Tct	p.T27S	FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560270.1_Missense_Mutation_p.T27S|FAM227B_ENST00000561064.1_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	27					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|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)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		TCTAGTGGGTACTATATCTTT	0.428																																						ENST00000267843.4																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(79-81)Act>Tct		fibroblast growth factor 7	Palifermin(DB00039)						169.0	148.0	155.0					15																	49716573		2196	4295	6491	SO:0001583	missense	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49716573A>T	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.79A>T	15.37:g.49716573A>T	ENSP00000267843:p.Thr27Ser					FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560270.1_Missense_Mutation_p.T27S	p.T27S	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	2	690	+		all_lung(180;0.00391)	27					H0YNY5|Q6FGV5|Q96FG5	Missense_Mutation	SNP	ENST00000267843.4	37	c.79A>T	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	A	5.124	0.208418	0.09757	.	.	ENSG00000140285	ENST00000267843	T	0.26067	1.76	5.7	4.58	0.56647	.	0.374636	0.27668	N	0.018353	T	0.14657	0.0354	.	.	.	0.29853	N	0.828286	B	0.12013	0.005	B	0.09377	0.004	T	0.18935	-1.0321	9	0.15952	T	0.53	.	9.3541	0.38155	0.8569:0.0:0.1431:0.0	.	27	P21781	FGF7_HUMAN	S	27	ENSP00000267843:T27S	ENSP00000267843:T27S	T	+	1	0	FGF7	47503865	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.596000	0.46205	1.009000	0.39289	0.533000	0.62120	ACT		0.428	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		4	136	0	0	0	1	0	4	136				
OR1M1	125963	broad.mit.edu	37	19	9204802	9204802	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:9204802C>A	ENST00000429566.3	+	1	948	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCTTGAGGAACAGAGACCTGA	0.522																																						ENST00000429566.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(880-882)aaC>aaA		olfactory receptor, family 1, subfamily M, member 1							55.0	52.0	53.0					19																	9204802		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204802C>A		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.882C>A	19.37:g.9204802C>A	ENSP00000401966:p.Asn294Lys						p.N294K	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	948	+			294					B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.882C>A	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	c	9.649	1.141034	0.21205	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.50001	0.76	3.71	0.33	0.15929	.	0.104193	0.42821	D	0.000660	T	0.54013	0.1832	H	0.96889	3.9	0.21878	N	0.999495	P	0.44877	0.845	B	0.36719	0.231	T	0.58036	-0.7707	10	0.87932	D	0	.	6.962	0.24603	0.0:0.6016:0.0:0.3984	.	294	Q8NGA1	OR1M1_HUMAN	K	297;294	ENSP00000401966:N294K	ENSP00000303195:N297K	N	+	3	2	OR1M1	9065802	0.015000	0.18098	0.633000	0.29310	0.449000	0.32228	-0.162000	0.10012	0.060000	0.16281	-0.244000	0.11960	AAC		0.522	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			43	336	1	0	4.00472e-15	1	4.54748e-15	43	336				
GATAD2B	57459	broad.mit.edu	37	1	153785834	153785834	+	Silent	SNP	A	A	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:153785834A>C	ENST00000368655.4	-	8	1554	c.1311T>G	c.(1309-1311)ggT>ggG	p.G437G		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	437	CR2; histone tail-binding.				ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATAGAATCTTACCATTCTTTT	0.473																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(1309-1311)ggT>ggG		GATA zinc finger domain containing 2B							165.0	142.0	150.0					1																	153785834		2203	4300	6503	SO:0001819	synonymous_variant	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153785834A>C	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1311T>G	1.37:g.153785834A>C							p.G437G	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		8	1554	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		437			CR2.		D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Silent	SNP	ENST00000368655.4	37	c.1311T>G	CCDS1054.1																																																																																				0.473	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		4	301	0	0	0	1	0	4	301				
SLC30A8	169026	broad.mit.edu	37	8	118184886	118184886	+	Missense_Mutation	SNP	C	C	T	rs139999213	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:118184886C>T	ENST00000456015.2	+	8	1076	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	SLC30A8_ENST00000521243.1_Missense_Mutation_p.P310L|SLC30A8_ENST00000427715.2_Missense_Mutation_p.P310L|SLC30A8_ENST00000519688.1_Missense_Mutation_p.P310L	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	359					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GACCAGGACCCCGACTGCCTT	0.488													C|||	4	0.000798722	0.003	0.0	5008	,	,		19714	0.0		0.0	False		,,,				2504	0.0				Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(928-930)cCc>cTc		solute carrier family 30 (zinc transporter), member 8		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	5,4401	8.1+/-20.4	0,5,2198	150.0	133.0	139.0		929,929,929,929,1076	4.4	0.8	8	dbSNP_134	139	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	SLC30A8	NM_001172811.1,NM_001172813.1,NM_001172814.1,NM_001172815.1,NM_173851.2	98,98,98,98,98	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign,benign,benign,benign,benign	310/321,310/321,310/321,310/321,359/370	118184886	5,13001	2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118184886C>T		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.1076C>T	8.37:g.118184886C>T	ENSP00000415011:p.Pro359Leu					SLC30A8_ENST00000456015.2_Missense_Mutation_p.P359L|SLC30A8_ENST00000521243.1_Missense_Mutation_p.P310L|SLC30A8_ENST00000519688.1_Missense_Mutation_p.P310L	p.P310L	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		11	1363	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		359					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.929C>T	CCDS6322.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.97	1.500690	0.26861	0.001135	0.0	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.64085	-0.04;-0.04;-0.04;-0.08	5.3	4.39	0.52855	.	0.056464	0.64402	D	0.000001	T	0.56171	0.1967	L	0.56769	1.78	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.52808	-0.8526	10	0.33141	T	0.24	-7.6129	11.247	0.49002	0.0:0.9054:0.0:0.0946	.	359	Q8IWU4	ZNT8_HUMAN	L	310;310;310;359	ENSP00000428545:P310L;ENSP00000407505:P310L;ENSP00000431069:P310L;ENSP00000415011:P359L	ENSP00000407505:P310L	P	+	2	0	SLC30A8	118254067	0.848000	0.29623	0.829000	0.32907	0.083000	0.17756	1.781000	0.38644	1.298000	0.44778	0.650000	0.86243	CCC		0.488	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		9	446	0	0	0	1	0	9	446				
MLX	6945	broad.mit.edu	37	17	40720575	40720575	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:40720575C>T	ENST00000246912.4	+	3	382	c.329C>T	c.(328-330)aCa>aTa	p.T110I	MLX_ENST00000435881.2_Missense_Mutation_p.T56I|MLX_ENST00000346833.4_Intron	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	110					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.T110I(1)		kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GTCCCCAACACAGGTAGGCAG	0.542																																					GBM(121;657 1601 4665 24731 34640)	ENST00000246912.4																			1	Substitution - Missense(1)	p.T110I(1)	kidney(1)	kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(328-330)aCa>aTa		MLX, MAX dimerization protein							113.0	113.0	113.0					17																	40720575		2203	4300	6503	SO:0001583	missense	6945				energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr17:40720575C>T	AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	11645	protein-coding gene	gene with protein product		602976	"""transcription factor-like 4"", ""MAX-like protein X"""	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.329C>T	17.37:g.40720575C>T	ENSP00000246912:p.Thr110Ile					MLX_ENST00000346833.4_Intron|MLX_ENST00000435881.2_Missense_Mutation_p.T56I	p.T110I	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	3	382	+		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)	110			Helix-loop-helix motif.		A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Missense_Mutation	SNP	ENST00000246912.4	37	c.329C>T	CCDS11430.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167144	0.94768	.	.	ENSG00000108788	ENST00000246912;ENST00000435881	T;T	0.81163	-1.46;-1.2	5.53	5.53	0.82687	.	0.053189	0.85682	D	0.000000	D	0.83562	0.5281	L	0.58101	1.795	0.80722	D	1	P;D	0.53462	0.894;0.96	P;P	0.51229	0.473;0.663	T	0.80274	-0.1451	10	0.27082	T	0.32	-6.9821	19.2635	0.93977	0.0:1.0:0.0:0.0	.	110;56	Q9UH92;Q9UH92-3	MLX_HUMAN;.	I	110;56	ENSP00000246912:T110I;ENSP00000416627:T56I	ENSP00000246912:T110I	T	+	2	0	MLX	37974101	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.541000	0.82084	2.882000	0.98803	0.655000	0.94253	ACA		0.542	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450415.1	NM_170607		5	262	0	0	0	1	0	5	262				
TBX21	30009	broad.mit.edu	37	17	45822688	45822688	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:45822688G>T	ENST00000177694.1	+	6	1775	c.1564G>T	c.(1564-1566)Gat>Tat	p.D522Y		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	522					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTCTCCTTTTGATAAGGAAGC	0.502																																						ENST00000177694.1																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1564-1566)Gat>Tat		T-box 21							40.0	46.0	44.0					17																	45822688		2203	4300	6503	SO:0001583	missense	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45822688G>T	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.1564G>T	17.37:g.45822688G>T	ENSP00000177694:p.Asp522Tyr						p.D522Y	NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN			6	1775	+			522						Missense_Mutation	SNP	ENST00000177694.1	37	c.1564G>T	CCDS11514.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291276	0.59976	.	.	ENSG00000073861	ENST00000177694	D	0.87334	-2.24	5.75	4.59	0.56863	.	0.508177	0.20298	N	0.095096	D	0.86310	0.5902	L	0.36672	1.1	0.40233	D	0.977872	D	0.55385	0.971	P	0.54401	0.751	D	0.86381	0.1729	10	0.59425	D	0.04	.	10.5379	0.45016	0.1009:0.0:0.8991:0.0	.	522	Q9UL17	TBX21_HUMAN	Y	522	ENSP00000177694:D522Y	ENSP00000177694:D522Y	D	+	1	0	TBX21	43177687	0.998000	0.40836	1.000000	0.80357	0.930000	0.56654	1.480000	0.35464	2.706000	0.92434	0.655000	0.94253	GAT		0.502	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		4	165	1	0	2.56e-06	1	2.71781e-06	4	165				
CYP4F12	66002	broad.mit.edu	37	19	15794430	15794430	+	Missense_Mutation	SNP	G	G	A	rs377135867		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:15794430G>A	ENST00000550308.1	+	7	1155	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	CYP4F12_ENST00000324632.10_Missense_Mutation_p.A259T	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	259					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.A259T(2)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CTTCCACAGGGCCTGCCGCCT	0.552																																						ENST00000550308.1																			2	Substitution - Missense(2)	p.A259T(2)	kidney(1)|skin(1)	NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(775-777)Gcc>Acc		cytochrome P450, family 4, subfamily F, polypeptide 12							80.0	82.0	81.0					19																	15794430		2198	4296	6494	SO:0001583	missense	66002							g.chr19:15794430G>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.775G>A	19.37:g.15794430G>A	ENSP00000448998:p.Ala259Thr					CYP4F12_ENST00000324632.9_Missense_Mutation_p.A259T	p.A259T	NM_023944.3	NP_076433.3					7	1155	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.775G>A	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	15.04	2.714618	0.48622	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.72835	-0.69;-0.69	2.47	2.47	0.30058	.	0.177740	0.35838	U	0.002941	T	0.74951	0.3784	M	0.68593	2.085	0.48288	D	0.999626	P	0.51147	0.942	P	0.53102	0.718	T	0.78658	-0.2118	10	0.87932	D	0	.	11.0495	0.47878	0.0:0.0:1.0:0.0	.	259	Q9HCS2	CP4FC_HUMAN	T	259	ENSP00000448998:A259T;ENSP00000321821:A259T	ENSP00000321821:A259T	A	+	1	0	CYP4F12	15655430	1.000000	0.71417	0.911000	0.35937	0.069000	0.16628	5.211000	0.65219	1.686000	0.51046	0.491000	0.48974	GCC		0.552	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			50	140	0	0	0	1	0	50	140				
FNIP1	96459	broad.mit.edu	37	5	131007746	131007746	+	Silent	SNP	A	A	T	rs75277328	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:131007746A>T	ENST00000510461.1	-	14	2486	c.2391T>A	c.(2389-2391)acT>acA	p.T797T	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Silent_p.T769T|FNIP1_ENST00000307954.8_Silent_p.T752T	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_ENST00000510461.1_Silent_p.T797T|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.T752T	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		8	453	0	0	0	1	0	8	453				
ELOVL5	60481	broad.mit.edu	37	6	53139989	53139989	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:53139989A>G	ENST00000542638.1	-	5	842	c.395T>C	c.(394-396)cTg>cCg	p.L132P	ELOVL5_ENST00000486973.1_5'Flank|ELOVL5_ENST00000370918.4_Missense_Mutation_p.L122P|MIR5685_ENST00000579080.1_RNA|ELOVL5_ENST00000304434.6_Missense_Mutation_p.L132P|ELOVL5_ENST00000541407.1_Missense_Mutation_p.L159P			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	132					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					GTTCTTGCGCAGGATGAAGAA	0.488																																						ENST00000542638.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(394-396)cTg>cCg		ELOVL fatty acid elongase 5							182.0	152.0	162.0					6																	53139989		2203	4300	6503	SO:0001583	missense	60481				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:53139989A>G	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.395T>C	6.37:g.53139989A>G	ENSP00000440728:p.Leu132Pro					ELOVL5_ENST00000541407.1_Missense_Mutation_p.L159P|ELOVL5_ENST00000304434.6_Missense_Mutation_p.L132P|ELOVL5_ENST00000370918.4_Missense_Mutation_p.L122P	p.L132P			Q9NYP7	ELOV5_HUMAN			5	842	-	Lung NSC(77;0.116)		132					B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Missense_Mutation	SNP	ENST00000542638.1	37	c.395T>C	CCDS4951.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.962297	0.92791	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.75613	0.3873	H	0.99712	4.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.996	D	0.87369	0.2349	10	0.87932	D	0	-8.7783	16.7021	0.85357	1.0:0.0:0.0:0.0	.	159;132;132	F6SH78;B3KWH9;Q9NYP7	.;.;ELOV5_HUMAN	P	122;132;132;159	ENSP00000359956:L122P;ENSP00000306640:L132P;ENSP00000440728:L132P;ENSP00000438095:L159P	ENSP00000306640:L132P	L	-	2	0	ELOVL5	53247948	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.281000	0.95811	2.343000	0.79666	0.533000	0.62120	CTG		0.488	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814		3	148	0	0	0	1	0	3	148				
GPRASP1	9737	broad.mit.edu	37	X	101912563	101912563	+	Missense_Mutation	SNP	G	G	A	rs201982508		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:101912563G>A	ENST00000361600.5	+	5	4523	c.3722G>A	c.(3721-3723)tGt>tAt	p.C1241Y	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.C1241Y|GPRASP1_ENST00000537097.1_Missense_Mutation_p.C1241Y|GPRASP1_ENST00000415986.1_Missense_Mutation_p.C1241Y	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1241	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGTAAAGTGTGTGAGGAAACC	0.423																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3721-3723)tGt>tAt		G protein-coupled receptor associated sorting protein 1							96.0	86.0	89.0					X																	101912563		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101912563G>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3722G>A	X.37:g.101912563G>A	ENSP00000355146:p.Cys1241Tyr					GPRASP1_ENST00000361600.5_Missense_Mutation_p.C1241Y|GPRASP1_ENST00000444152.1_Missense_Mutation_p.C1241Y|GPRASP1_ENST00000415986.1_Missense_Mutation_p.C1241Y|RP4-769N13.7_ENST00000602441.1_RNA	p.C1241Y	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	4535	+			1241			OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.3722G>A	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262707	0.23051	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	2.58	2.58	0.30949	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.52306	0.1726	M	0.79926	2.475	0.37521	D	0.917538	D	0.89917	1.0	D	0.91635	0.999	T	0.59847	-0.7377	9	0.66056	D	0.02	-4.5625	7.9124	0.29798	0.0:0.0:1.0:0.0	.	1241	Q5JY77	GASP1_HUMAN	Y	1241	ENSP00000393691:C1241Y;ENSP00000409420:C1241Y;ENSP00000355146:C1241Y;ENSP00000445683:C1241Y	ENSP00000355146:C1241Y	C	+	2	0	GPRASP1	101799219	1.000000	0.71417	0.939000	0.37840	0.874000	0.50279	3.639000	0.54339	1.576000	0.49790	0.462000	0.41574	TGT		0.423	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		6	243	0	0	0	1	0	6	243				
PRAMEF11	440560	broad.mit.edu	37	1	12885340	12885340	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:12885340C>T	ENST00000535591.1	-	4	966	c.771G>A	c.(769-771)aaG>aaA	p.K257K	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	257					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TTGTGAGGACCTTTAACGAGG	0.493																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(769-771)aaG>aaA		PRAME family member 11							7.0	9.0	8.0					1																	12885340		137	483	620	SO:0001819	synonymous_variant	440560							g.chr1:12885340C>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.771G>A	1.37:g.12885340C>T							p.K257K	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	966	-			257						Silent	SNP	ENST00000535591.1	37	c.771G>A	CCDS53268.1																																																																																				0.493	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		6	498	0	0	0	1	0	6	498				
PARM1	25849	broad.mit.edu	37	4	75938165	75938165	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:75938165G>A	ENST00000307428.7	+	2	786	c.574G>A	c.(574-576)Gca>Aca	p.A192T	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	192					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCTCCAACTGCACCAGAGTC	0.562																																						ENST00000307428.7																			0				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(574-576)Gca>Aca		prostate androgen-regulated mucin-like protein 1							181.0	195.0	190.0					4																	75938165		2145	4261	6406	SO:0001583	missense	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75938165G>A	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.574G>A	4.37:g.75938165G>A	ENSP00000370224:p.Ala192Thr					PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	p.A192T	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN			2	786	+			192					B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	c.574G>A	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	G	5.117	0.207149	0.09704	.	.	ENSG00000169116	ENST00000307428	T	0.46819	0.86	5.55	-11.0	0.00169	.	0.979946	0.08364	N	0.957174	T	0.13670	0.0331	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.16928	-1.0386	10	0.02654	T	1	-0.2021	2.4012	0.04401	0.1726:0.1136:0.4507:0.2631	.	192	Q6UWI2	PARM1_HUMAN	T	192	ENSP00000370224:A192T	ENSP00000370224:A192T	A	+	1	0	PARM1	76157189	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.121000	0.01322	-1.644000	0.01517	-0.253000	0.11424	GCA		0.562	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		13	1034	0	0	0	1	0	13	1034				
TBX21	30009	broad.mit.edu	37	17	45822689	45822689	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:45822689A>T	ENST00000177694.1	+	6	1776	c.1565A>T	c.(1564-1566)gAt>gTt	p.D522V		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	522					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCTCCTTTTGATAAGGAAGCT	0.502																																						ENST00000177694.1																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1564-1566)gAt>gTt		T-box 21							40.0	47.0	44.0					17																	45822689		2202	4300	6502	SO:0001583	missense	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45822689A>T	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.1565A>T	17.37:g.45822689A>T	ENSP00000177694:p.Asp522Val						p.D522V	NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN			6	1776	+			522						Missense_Mutation	SNP	ENST00000177694.1	37	c.1565A>T	CCDS11514.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.288762	0.59976	.	.	ENSG00000073861	ENST00000177694	D	0.87256	-2.23	5.75	5.75	0.90469	.	0.508177	0.20298	N	0.095096	D	0.84000	0.5376	L	0.36672	1.1	0.58432	D	0.999996	P	0.48911	0.917	P	0.46049	0.502	D	0.84259	0.0482	10	0.48119	T	0.1	.	12.4509	0.55677	1.0:0.0:0.0:0.0	.	522	Q9UL17	TBX21_HUMAN	V	522	ENSP00000177694:D522V	ENSP00000177694:D522V	D	+	2	0	TBX21	43177688	0.998000	0.40836	1.000000	0.80357	0.922000	0.55478	5.025000	0.64097	2.185000	0.69588	0.533000	0.62120	GAT		0.502	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		4	162	0	0	0	1	0	4	162				
TTN	7273	broad.mit.edu	37	2	179440547	179440547	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:179440547G>A	ENST00000591111.1	-	276	65613	c.65389C>T	c.(65389-65391)Cca>Tca	p.P21797S	TTN_ENST00000589042.1_Missense_Mutation_p.P23438S|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P20870S|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P14498S|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P14373S|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P14565S			Q8WZ42	TITIN_HUMAN	titin	21797	Fibronectin type-III 58. {ECO:0000255|PROSITE-ProRule:PRU00316}.			PGPVLN -> ARPSPQ (in Ref. 13; CAA45939). {ECO:0000305}.	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)			TTGAGGACTGGGCCTGGCGTG	0.493																																						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.(70312-70314)Cca>Tca		titin							94.0	100.0	98.0					2																	179440547		2098	4242	6340	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179440547G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65389C>T	2.37:g.179440547G>A	ENSP00000465570:p.Pro21797Ser					TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P14498S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P14565S|TTN_ENST00000342992.6_Missense_Mutation_p.P20870S|TTN_ENST00000460472.2_Missense_Mutation_p.P14373S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P21797S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.P23438S	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)		326	70536	-			21797			Fibronectin type-III 70.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.70312C>T		.	.	.	.	.	.	.	.	.	.	G	14.80	2.643743	0.47258	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.67	5.67	0.87782	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80281	0.4594	M	0.86028	2.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.996	T	0.82639	-0.0358	9	0.87932	D	0	.	19.7429	0.96238	0.0:0.0:1.0:0.0	.	14373;14498;14565;21797	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	20870;14373;14565;14498;14371	ENSP00000343764:P20870S;ENSP00000434586:P14373S;ENSP00000340554:P14565S;ENSP00000352154:P14498S	ENSP00000340554:P14565S	P	-	1	0	TTN	179148793	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.005000	0.88553	2.685000	0.91497	0.655000	0.94253	CCA		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	422	0	0	0	1	0	8	422				
ZNF280C	55609	broad.mit.edu	37	X	129343630	129343630	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:129343630A>T	ENST00000370978.4	-	16	2192	c.2039T>A	c.(2038-2040)cTc>cAc	p.L680H		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	680					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.L680Y(1)|p.L680H(1)		endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGATTACCTGAGAGTTCCTGA	0.323																																						ENST00000370978.4																			2	Substitution - Missense(2)	p.L680Y(1)|p.L680H(1)	kidney(2)	endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2038-2040)cTc>cAc		zinc finger protein 280C							101.0	104.0	103.0					X																	129343630		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129343630A>T	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.2039T>A	X.37:g.129343630A>T	ENSP00000360017:p.Leu680His						p.L680H	NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN			16	2192	-			680					A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.2039T>A	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295861	0.23564	.	.	ENSG00000056277	ENST00000370978	T	0.03035	4.07	3.86	-0.158	0.13383	.	.	.	.	.	T	0.04363	0.0120	L	0.54323	1.7	0.09310	N	1	B	0.25206	0.12	B	0.25614	0.062	T	0.38845	-0.9642	9	0.87932	D	0	.	4.0865	0.09950	0.6131:0.1766:0.2103:0.0	.	680	Q8ND82	Z280C_HUMAN	H	680	ENSP00000360017:L680H	ENSP00000360017:L680H	L	-	2	0	ZNF280C	129171311	0.030000	0.19436	0.085000	0.20634	0.875000	0.50365	0.371000	0.20450	-0.222000	0.09958	0.381000	0.24937	CTC		0.323	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		10	65	0	0	0	1	0	10	65				
PTEN	5728	broad.mit.edu	37	10	89711891	89711891	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:89711891G>A	ENST00000371953.3	+	6	1866	c.509G>A	c.(508-510)aGt>aAt	p.S170N		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	170	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BRRS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:10400993, ECO:0000269|PubMed:11494117, ECO:0000269|PubMed:9241266}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.S170N(6)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.S170I(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTATTCCCAGTCAGAGGCGC	0.353		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		65	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Missense(9)|Complex - frameshift(4)|Unknown(4)|Deletion - In frame(1)	p.0?(37)|p.S170N(6)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.S170I(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)	central_nervous_system(18)|prostate(16)|skin(8)|endometrium(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|biliary_tract(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(508-510)aGt>aAt		phosphatase and tensin homolog							121.0	124.0	123.0					10																	89711891		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711891G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.509G>A	10.37:g.89711891G>A	ENSP00000361021:p.Ser170Asn	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.S170N	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1866	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	170		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.509G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140552	0.94560	.	.	ENSG00000171862	ENST00000371953	D	0.98822	-5.16	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.077988	0.85682	D	0.000000	D	0.99489	0.9818	H	0.96489	3.83	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98342	1.0539	9	.	.	.	-3.8658	19.9308	0.97118	0.0:0.0:1.0:0.0	.	170	P60484	PTEN_HUMAN	N	170	ENSP00000361021:S170N	.	S	+	2	0	PTEN	89701871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.370000	0.97159	2.722000	0.93159	0.591000	0.81541	AGT		0.353	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		14	33	0	0	0	1	0	14	33				
HNRNPUL1	11100	broad.mit.edu	37	19	41809886	41809886	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:41809886G>A	ENST00000392006.3	+	13	2155	c.1982G>A	c.(1981-1983)cGc>cAc	p.R661H	HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R561H|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R661H|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R561H|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R572H|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R561H|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R547H	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	661	Gly-rich.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GGTTTCAACCGCAGCGGAGGT	0.552																																						ENST00000392006.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1981-1983)cGc>cAc		heterogeneous nuclear ribonucleoprotein U-like 1							92.0	92.0	92.0					19																	41809886		2203	4300	6503	SO:0001583	missense	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41809886G>A	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1982G>A	19.37:g.41809886G>A	ENSP00000375863:p.Arg661His					HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R561H|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R661H|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R561H|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R561H|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R547H|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R572H	p.R661H	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN			13	2155	+			661			Gly-rich.|Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	c.1982G>A	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234785	0.58886	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.03	5.03	0.67393	.	0.455087	0.23492	N	0.047600	D	0.84401	0.5464	N	0.19112	0.55	0.36129	D	0.846001	D;D;D;D;D;D;D	0.89917	0.988;0.994;0.999;1.0;0.999;0.999;0.997	P;P;D;D;D;P;P	0.79108	0.512;0.662;0.927;0.992;0.927;0.848;0.818	D	0.87148	0.2207	10	0.46703	T	0.11	-12.2781	15.4541	0.75299	0.0:0.0:1.0:0.0	.	572;561;661;185;547;661;561	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-5;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;.;HNRL1_HUMAN;.	H	561;661;547;572	ENSP00000340857:R561H;ENSP00000375863:R661H;ENSP00000367460:R547H;ENSP00000263367:R572H	ENSP00000263367:R572H	R	+	2	0	HNRNPUL1	46501726	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.177000	0.65032	2.649000	0.89929	0.555000	0.69702	CGC		0.552	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		5	392	0	0	0	1	0	5	392				
OR5D14	219436	broad.mit.edu	37	11	55563455	55563455	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:55563455C>T	ENST00000335605.1	+	1	424	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	142						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)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTCACAGAGGCTCTGTGCCCT	0.522																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(424-426)Ctc>Ttc		olfactory receptor, family 5, subfamily D, member 14							111.0	102.0	105.0					11																	55563455		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563455C>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.424C>T	11.37:g.55563455C>T	ENSP00000334456:p.Leu142Phe						p.L142F	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	424	+		all_epithelial(135;0.196)	142					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.424C>T	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	5.659	0.306299	0.10733	.	.	ENSG00000186113	ENST00000335605	T	0.00227	8.5	5.08	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	N	0.001178	T	0.00178	0.0005	L	0.56280	1.765	0.09310	N	1	B	0.27625	0.183	B	0.35688	0.208	T	0.38950	-0.9637	10	0.66056	D	0.02	-16.9041	1.6816	0.02832	0.1691:0.4856:0.1637:0.1816	.	142	Q8NGL3	OR5DE_HUMAN	F	142	ENSP00000334456:L142F	ENSP00000334456:L142F	L	+	1	0	OR5D14	55320031	0.000000	0.05858	0.060000	0.19600	0.090000	0.18270	-0.942000	0.03921	1.142000	0.42291	0.643000	0.83706	CTC		0.522	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		5	49	0	0	0	1	0	5	49				
TMED9	54732	broad.mit.edu	37	5	177021158	177021158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:177021158C>T	ENST00000332598.6	+	4	487	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	TMED9_ENST00000507578.1_3'UTR	NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	144	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.|Required for interaction with STX17.				COPI coating of Golgi vesicle (GO:0048205)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network transport vesicle (GO:0030140)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGGACATCCAGGTAGGTGA	0.507																																						ENST00000332598.6																			0				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10						c.(430-432)Cag>Tag		transmembrane emp24 protein transport domain containing 9							106.0	93.0	98.0					5																	177021158		2203	4300	6503	SO:0001587	stop_gained	54732				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		g.chr5:177021158C>T	AF441399	CCDS4428.1	5q35.3	2008-02-05			ENSG00000184840	ENSG00000184840			24878	protein-coding gene	gene with protein product						12477932	Standard	NM_017510		Approved	HSGP25L2G	uc003mhx.3	Q9BVK6	OTTHUMG00000130859	ENST00000332598.6:c.430C>T	5.37:g.177021158C>T	ENSP00000330945:p.Gln144*					TMED9_ENST00000507578.1_3'UTR	p.Q144*	NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	487	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	144			GOLD.		Q14437|Q8WZ61	Nonsense_Mutation	SNP	ENST00000332598.6	37	c.430C>T	CCDS4428.1	.	.	.	.	.	.	.	.	.	.	C	36	5.641975	0.96704	.	.	ENSG00000184840	ENST00000332598	.	.	.	5.81	5.81	0.92471	.	0.104225	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-43.4515	17.5764	0.87950	0.0:1.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000330945:Q144X	Q	+	1	0	TMED9	176953764	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.737000	0.68606	2.746000	0.94184	0.655000	0.94253	CAG		0.507	TMED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253433.1	NM_017510		6	721	0	0	0	1	0	6	721				
C1S	716	broad.mit.edu	37	12	7172406	7172406	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:7172406A>T	ENST00000406697.1	+	9	1148	c.520A>T	c.(520-522)Aat>Tat	p.N174Y	C1S_ENST00000360817.5_Missense_Mutation_p.N174Y|C1S_ENST00000402681.3_Missense_Mutation_p.N7Y|C1S_ENST00000328916.3_Missense_Mutation_p.N174Y			P09871	C1S_HUMAN	complement component 1, s subcomponent	174					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCTGTTAGTTAATTGCAGTGG	0.423																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(520-522)Aat>Tat		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						72.0	70.0	71.0					12																	7172406		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7172406A>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.520A>T	12.37:g.7172406A>T	ENSP00000385035:p.Asn174Tyr					C1S_ENST00000328916.3_Missense_Mutation_p.N174Y|C1S_ENST00000402681.3_Missense_Mutation_p.N7Y|C1S_ENST00000360817.5_Missense_Mutation_p.N174Y	p.N174Y			P09871	C1S_HUMAN			9	1148	+			174					D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.520A>T	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209523	0.58343	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	6.17	6.17	0.99709	CUB (2);	0.000000	0.45606	D	0.000349	T	0.18841	0.0452	N	0.19112	0.55	0.48341	D	0.999634	P	0.49185	0.92	B	0.43889	0.435	T	0.01401	-1.1364	10	0.72032	D	0.01	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	174	P09871	C1S_HUMAN	Y	174;174;174;163;7;7	ENSP00000385035:N174Y;ENSP00000328173:N174Y;ENSP00000354057:N174Y;ENSP00000384171:N7Y;ENSP00000442298:N7Y	ENSP00000328173:N174Y	N	+	1	0	C1S	7042667	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	5.137000	0.64789	2.371000	0.80710	0.533000	0.62120	AAT		0.423	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		13	327	0	0	0	1	0	13	327				
DSG1	1828	broad.mit.edu	37	18	28934518	28934518	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:28934518C>T	ENST00000257192.4	+	15	2571	c.2359C>T	c.(2359-2361)Cag>Tag	p.Q787*	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|DSG1_ENST00000462981.2_Nonsense_Mutation_p.Q146*	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	787					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.Q787*(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTGCCTTCCTCAGGAAACAGA	0.483																																						ENST00000257192.4																			1	Substitution - Nonsense(1)	p.Q787*(1)	kidney(1)	NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2359-2361)Cag>Tag		desmoglein 1							102.0	96.0	98.0					18																	28934518		2203	4300	6503	SO:0001587	stop_gained	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28934518C>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2359C>T	18.37:g.28934518C>T	ENSP00000257192:p.Gln787*					RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Nonsense_Mutation_p.Q146*|RP11-534N16.1_ENST00000581856.1_RNA	p.Q787*	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		15	2571	+			787					B7Z845	Nonsense_Mutation	SNP	ENST00000257192.4	37	c.2359C>T	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526934	0.85706	.	.	ENSG00000134760	ENST00000257192	.	.	.	6.04	6.04	0.98038	.	0.663555	0.14672	N	0.305318	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	13.7479	0.62887	0.0:0.9302:0.0:0.0698	.	.	.	.	X	787	.	ENSP00000257192:Q787X	Q	+	1	0	DSG1	27188516	0.988000	0.35896	0.911000	0.35937	0.103000	0.19146	2.834000	0.48167	2.873000	0.98535	0.563000	0.77884	CAG		0.483	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		65	378	0	0	0	1	0	65	378				
TLN2	83660	broad.mit.edu	37	15	63032904	63032904	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:63032904G>A	ENST00000561311.1	+	31	4191	c.3961G>A	c.(3961-3963)Gcc>Acc	p.A1321T	TLN2_ENST00000306829.6_Missense_Mutation_p.A1321T			Q9Y4G6	TLN2_HUMAN	talin 2	1321					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCTGTTAGCTGCCAAGTCTCT	0.507																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(3961-3963)Gcc>Acc		talin 2							85.0	77.0	80.0					15																	63032904		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63032904G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3961G>A	15.37:g.63032904G>A	ENSP00000453508:p.Ala1321Thr					TLN2_ENST00000306829.6_Missense_Mutation_p.A1321T	p.A1321T			Q9Y4G6	TLN2_HUMAN			31	4191	+			1321					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.3961G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222079	0.95139	.	.	ENSG00000171914	ENST00000306829	T	0.27402	1.67	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.57125	0.2032	M	0.69523	2.12	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.49021	-0.8982	10	0.41790	T	0.15	-18.2815	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1321	Q9Y4G6	TLN2_HUMAN	T	1321	ENSP00000303476:A1321T	ENSP00000303476:A1321T	A	+	1	0	TLN2	60820196	1.000000	0.71417	0.985000	0.45067	0.999000	0.98932	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	GCC		0.507	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			9	881	0	0	0	1	0	9	881				
DRD5	1816	broad.mit.edu	37	4	9783816	9783816	+	Silent	SNP	C	C	T	rs2227839	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:9783816C>T	ENST00000304374.2	+	1	559	c.163C>T	c.(163-165)Ctg>Ttg	p.L55L		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	55					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CATCTGGACCCTGCTGGGCAA	0.687																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(163-165)Ctg>Ttg		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						26.0	21.0	23.0					4																	9783816		2203	4298	6501	SO:0001819	synonymous_variant	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783816C>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.163C>T	4.37:g.9783816C>T							p.L55L	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	559	+			55					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.163C>T	CCDS3405.1																																																																																				0.687	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			4	50	0	0	0	1	0	4	50				
DHRS7B	25979	broad.mit.edu	37	17	21094259	21094259	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:21094259A>T	ENST00000395511.3	+	7	1092		c.e7-1		DHRS7B_ENST00000579303.1_Splice_Site|DHRS7B_ENST00000581463.1_Intron	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TATTTATTTTAGTTATGGACA	0.517																																						ENST00000395511.3																			1	Unknown(1)	p.?(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						c.e7-1		dehydrogenase/reductase (SDR family) member 7B							82.0	81.0	82.0					17																	21094259		2203	4300	6503	SO:0001630	splice_region_variant	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21094259A>T	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.773-1A>T	17.37:g.21094259A>T						DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_Splice_Site		NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN			7	1092	+								B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Splice_Site	SNP	ENST00000395511.3	37		CCDS11215.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.592061	0.46214	.	.	ENSG00000109016	ENST00000395511;ENST00000346603	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1502	0.81611	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHRS7B	21034851	1.000000	0.71417	0.745000	0.31077	0.287000	0.27160	8.794000	0.91867	2.224000	0.72417	0.533000	0.62120	.		0.517	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510	Intron	10	221	0	0	0	1	0	10	221				
TNFRSF10C	8794	broad.mit.edu	37	8	22969285	22969285	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:22969285C>A	ENST00000356864.3	+	2	645	c.113C>A	c.(112-114)aCa>aAa	p.T38K	TNFRSF10C_ENST00000540813.1_Intron|TNFRSF10C_ENST00000520607.1_3'UTR	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	38					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CCCCAGCAGACAGTGGCCCCA	0.512																																						ENST00000356864.3																			0				endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15						c.(112-114)aCa>aAa		tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain							81.0	68.0	73.0					8																	22969285		2203	4300	6503	SO:0001583	missense	8794				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity	g.chr8:22969285C>A	AF012536	CCDS6037.1	8p22-p21	2006-02-22			ENSG00000173535	ENSG00000173535		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11906	protein-coding gene	gene with protein product		603613				9314565, 9325248	Standard	NM_003841		Approved	DcR1, TRAILR3, LIT, TRID, CD263	uc003xcy.3	O14798	OTTHUMG00000097844	ENST00000356864.3:c.113C>A	8.37:g.22969285C>A	ENSP00000349324:p.Thr38Lys					TNFRSF10C_ENST00000520607.1_3'UTR|TNFRSF10C_ENST00000540813.1_Intron	p.T38K	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)	2	645	+		Prostate(55;0.0421)|Breast(100;0.067)	38					O14755|Q08AS6|Q6FH98|Q6UXM5	Missense_Mutation	SNP	ENST00000356864.3	37	c.113C>A	CCDS6037.1	.	.	.	.	.	.	.	.	.	.	C	3.722	-0.057288	0.07317	.	.	ENSG00000173535	ENST00000356864;ENST00000544885	T	0.62364	0.03	1.63	-1.89	0.07689	.	7.727360	0.03408	U	0.204343	T	0.47322	0.1439	L	0.40543	1.245	0.09310	N	1	P	0.47409	0.895	B	0.38056	0.264	T	0.41574	-0.9501	10	0.29301	T	0.29	.	5.0917	0.14711	0.0:0.5593:0.0:0.4407	.	38	O14798	TR10C_HUMAN	K	38	ENSP00000349324:T38K	ENSP00000349324:T38K	T	+	2	0	TNFRSF10C	23025230	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.581000	0.05820	-0.515000	0.06479	0.400000	0.26472	ACA		0.512	TNFRSF10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215134.3			19	218	1	0	1.64293e-13	1	1.83866e-13	19	218				
ZNF468	90333	broad.mit.edu	37	19	53345260	53345260	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:53345260C>G	ENST00000595646.1	-	4	407	c.287G>C	c.(286-288)gGc>gCc	p.G96A	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.G43A|ZNF468_ENST00000396409.4_Missense_Mutation_p.G43A			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	96					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		AAACTCGAAGCCATGAATGTC	0.428																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(286-288)gGc>gCc		zinc finger protein 468							180.0	165.0	170.0					19																	53345260		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53345260C>G	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.287G>C	19.37:g.53345260C>G	ENSP00000470381:p.Gly96Ala					ZNF468_ENST00000396409.4_Missense_Mutation_p.G43A|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.G43A|ZNF468_ENST00000243639.4_3'UTR	p.G96A			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	407	-			96					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.287G>C	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	t	2.865	-0.235322	0.05983	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.05855	3.38;3.38	1.2	-2.4	0.06583	.	.	.	.	.	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B	0.18741	0.03	B	0.24394	0.053	T	0.41288	-0.9517	9	0.40728	T	0.16	.	5.4752	0.16692	0.0:0.4522:0.3483:0.1995	.	96	Q5VIY5	ZN468_HUMAN	A	96;43;43	ENSP00000379690:G43A;ENSP00000445669:G43A	ENSP00000243639:G96A	G	-	2	0	ZNF468	58037072	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.789000	0.04609	-2.220000	0.00728	-1.197000	0.01672	GGC		0.428	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		6	459	0	0	0	1	0	6	459				
IKZF5	64376	broad.mit.edu	37	10	124753660	124753660	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:124753660G>A	ENST00000368886.5	-	5	1216	c.896C>T	c.(895-897)gCc>gTc	p.A299V	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	299					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(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TGCTGATACGGCAGAAACTAC	0.522																																						ENST00000368886.5																			0				endometrium(2)|lung(3)|prostate(1)	6						c.(895-897)gCc>gTc		IKAROS family zinc finger 5 (Pegasus)							119.0	125.0	123.0					10																	124753660		2013	4172	6185	SO:0001583	missense	64376				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:124753660G>A	AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.896C>T	10.37:g.124753660G>A	ENSP00000357881:p.Ala299Val					PSTK_ENST00000497219.1_Intron	p.A299V	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)	5	1216	-		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)	299					B3KVH7|D3DRE7|Q9H2T0	Missense_Mutation	SNP	ENST00000368886.5	37	c.896C>T	CCDS41574.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316052	0.60524	.	.	ENSG00000095574	ENST00000368886	T	0.06142	3.34	6.03	6.03	0.97812	.	0.092556	0.85682	D	0.000000	T	0.07818	0.0196	N	0.24115	0.695	0.58432	D	0.999999	B	0.29531	0.247	B	0.31016	0.123	T	0.31251	-0.9950	10	0.72032	D	0.01	-9.5763	20.5568	0.99304	0.0:0.0:1.0:0.0	.	299	Q9H5V7	IKZF5_HUMAN	V	299	ENSP00000357881:A299V	ENSP00000357881:A299V	A	-	2	0	IKZF5	124743650	0.996000	0.38824	0.747000	0.31113	0.654000	0.38779	6.312000	0.72840	2.861000	0.98227	0.655000	0.94253	GCC		0.522	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		4	251	0	0	0	1	0	4	251				
JAM3	83700	broad.mit.edu	37	11	134014151	134014151	+	Missense_Mutation	SNP	G	G	A	rs267602787		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:134014151G>A	ENST00000299106.4	+	4	431	c.272G>A	c.(271-273)cGt>cAt	p.R91H	JAM3_ENST00000441717.3_Intron|JAM3_ENST00000529443.2_Missense_Mutation_p.R136H|JAM3_ENST00000524969.1_3'UTR			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	91	Ig-like V-type.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TTGGCGGGTCGTGCAGAAATA	0.488																																						ENST00000299106.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10						c.(271-273)cGt>cAt		junctional adhesion molecule 3							116.0	105.0	109.0					11																	134014151		2201	4297	6498	SO:0001583	missense	83700				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding	g.chr11:134014151G>A	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.272G>A	11.37:g.134014151G>A	ENSP00000299106:p.Arg91His					JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000441717.3_Intron|JAM3_ENST00000529443.2_Missense_Mutation_p.R136H	p.R91H			Q9BX67	JAM3_HUMAN		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)	4	431	+	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)	91			Ig-like V-type.		B3KWG9|Q8WWL8|Q96FL1	Missense_Mutation	SNP	ENST00000299106.4	37	c.272G>A	CCDS8494.2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905277	0.92035	.	.	ENSG00000166086	ENST00000299106	.	.	.	5.47	5.47	0.80525	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83510	0.5270	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85795	0.1370	9	0.87932	D	0	.	17.5125	0.87764	0.0:0.0:1.0:0.0	.	91	Q9BX67	JAM3_HUMAN	H	136	.	ENSP00000299106:R136H	R	+	2	0	JAM3	133519361	1.000000	0.71417	0.999000	0.59377	0.804000	0.45430	7.976000	0.88070	2.583000	0.87209	0.561000	0.74099	CGT		0.488	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		7	451	0	0	0	1	0	7	451				
PCSK1	5122	broad.mit.edu	37	5	95728781	95728781	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:95728781T>A	ENST00000311106.3	-	14	2423	c.2186A>T	c.(2185-2187)tAt>tTt	p.Y729F	PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.Y682F|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	729					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)			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)"""	TTTAGTGTTATAAAAAACATC	0.408																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(2185-2187)tAt>tTt		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						142.0	147.0	146.0					5																	95728781		2203	4300	6503	SO:0001583	missense	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.chr5:95728781T>A		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.2186A>T	5.37:g.95728781T>A	ENSP00000308024:p.Tyr729Phe					CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.Y682F	p.Y729F	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	14	2423	-		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)	729					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.2186A>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	T	32	5.162652	0.94727	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.73047	-0.55;-0.71	6.03	6.03	0.97812	Prohormone convertase enzyme (1);	0.056191	0.85682	D	0.000000	T	0.78641	0.4315	L	0.36672	1.1	0.58432	D	0.999996	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.994	T	0.80686	-0.1272	10	0.87932	D	0	-18.7255	16.2196	0.82251	0.0:0.0:0.0:1.0	.	682;729	E9PHA1;P29120	.;NEC1_HUMAN	F	729;682	ENSP00000308024:Y729F;ENSP00000421600:Y682F	ENSP00000308024:Y729F	Y	-	2	0	PCSK1	95754537	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.255000	0.78338	2.308000	0.77769	0.533000	0.62120	TAT		0.408	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		10	922	0	0	0	1	0	10	922				
ZMAT2	153527	broad.mit.edu	37	5	140083501	140083501	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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	327	0	0	0	1	0	6	327				
TRIM15	89870	broad.mit.edu	37	6	30138759	30138759	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:30138759T>C	ENST00000376694.4	+	6	1323	c.854T>C	c.(853-855)tTg>tCg	p.L285S	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	285	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TCAGAAAACTTGGCGCATCAT	0.428																																						ENST00000376694.4																			0				large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						c.(853-855)tTg>tCg		tripartite motif containing 15							162.0	173.0	169.0					6																	30138759		1511	2709	4220	SO:0001583	missense	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30138759T>C	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.854T>C	6.37:g.30138759T>C	ENSP00000365884:p.Leu285Ser					TRIM15_ENST00000376688.1_Intron	p.L285S	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN			6	1323	+			285			B30.2/SPRY.		A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	c.854T>C	CCDS4677.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.56|15.56	2.870396|2.870396	0.51588|0.51588	.|.	.|.	ENSG00000204610|ENSG00000204610	ENST00000376695;ENST00000376694|ENST00000433744	T|.	0.58210|.	0.35|.	4.93|4.93	3.76|3.76	0.43208|0.43208	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);|.	0.192831|.	0.26200|.	N|.	0.025759|.	T|T	0.49184|0.49184	0.1542|0.1542	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.69824|.	0.966|.	T|T	0.51084|0.51084	-0.8750|-0.8750	10|5	0.72032|.	D|.	0.01|.	.|.	7.3458|7.3458	0.26662|0.26662	0.0:0.0985:0.0:0.9015|0.0:0.0985:0.0:0.9015	.|.	285|.	Q9C019|.	TRI15_HUMAN|.	S|R	216;285|122	ENSP00000365884:L285S|.	ENSP00000365884:L285S|.	L|W	+|+	2|1	0|0	TRIM15|TRIM15	30246738|30246738	0.704000|0.704000	0.27836|0.27836	0.326000|0.326000	0.25389|0.25389	0.841000|0.841000	0.47740|0.47740	1.207000|1.207000	0.32333|0.32333	0.897000|0.897000	0.36392|0.36392	0.372000|0.372000	0.22366|0.22366	TTG|TGG		0.428	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		6	115	0	0	0	1	0	6	115				
LRR1	122769	broad.mit.edu	37	14	50074360	50074360	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:50074360C>A	ENST00000298288.6	+	3	849	c.525C>A	c.(523-525)tgC>tgA	p.C175*	LRR1_ENST00000318317.4_Intron	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	175					protein ubiquitination (GO:0016567)					kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTATGCTTTGCTTAAAAAGCC	0.378																																						ENST00000298288.6																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(523-525)tgC>tgA		leucine rich repeat protein 1							71.0	72.0	72.0					14																	50074360		2203	4300	6503	SO:0001587	stop_gained	122769							g.chr14:50074360C>A	BC030142	CCDS9686.1, CCDS9687.1	14q21.3	2011-02-02	2011-02-02	2011-02-02	ENSG00000165501	ENSG00000165501			19742	protein-coding gene	gene with protein product	"""LRR-repeat protein 1"""	609193	"""peptidylprolyl isomerase (cyclophilin)-like 5"""	PPIL5		11804328, 21074724	Standard	NR_037792		Approved	MGC20689, LRR-1	uc001wwn.3	Q96L50	OTTHUMG00000140273	ENST00000298288.6:c.525C>A	14.37:g.50074360C>A	ENSP00000298288:p.Cys175*					LRR1_ENST00000318317.4_Intron	p.C175*	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN			3	849	+			175					A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9	Nonsense_Mutation	SNP	ENST00000298288.6	37	c.525C>A	CCDS9686.1	.	.	.	.	.	.	.	.	.	.	C	35	5.548444	0.96488	.	.	ENSG00000165501	ENST00000298288;ENST00000361579	.	.	.	5.72	0.859	0.19036	.	0.091244	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-2.7319	9.9057	0.41375	0.0:0.6776:0.0:0.3224	.	.	.	.	X	175;197	.	ENSP00000298288:C175X	C	+	3	2	LRR1	49144110	0.497000	0.26067	0.998000	0.56505	0.997000	0.91878	-0.076000	0.11412	0.096000	0.17463	0.650000	0.86243	TGC		0.378	LRR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410790.1	NM_203467		4	97	1	0	5.9392e-07	1	6.37077e-07	4	97				
ST8SIA2	8128	broad.mit.edu	37	15	92981692	92981692	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:92981692A>C	ENST00000268164.3	+	4	637	c.400A>C	c.(400-402)Aat>Cat	p.N134H	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.N113H	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	134					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CAGCACCATGAATGTGTCCCA	0.483																																						ENST00000268164.3																			0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(400-402)Aat>Cat		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2							152.0	154.0	153.0					15																	92981692		2198	4298	6496	SO:0001583	missense	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:92981692A>C	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.400A>C	15.37:g.92981692A>C	ENSP00000268164:p.Asn134His					ST8SIA2_ENST00000539113.1_Missense_Mutation_p.N113H	p.N134H	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		4	637	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		134					Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	c.400A>C	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013486	0.75161	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	T;T;T	0.31247	1.5;1.5;1.5	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	L	0.59967	1.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.99;0.992	T	0.41787	-0.9489	10	0.29301	T	0.29	-9.9051	15.0411	0.71791	1.0:0.0:0.0:0.0	.	113;134	C6G488;Q92186	.;SIA8B_HUMAN	H	134;113;91	ENSP00000268164:N134H;ENSP00000437382:N113H;ENSP00000450851:N91H	ENSP00000268164:N134H	N	+	1	0	ST8SIA2	90782696	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	8.685000	0.91246	1.955000	0.56771	0.460000	0.39030	AAT		0.483	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		6	403	0	0	0	1	0	6	403				
NUP188	23511	broad.mit.edu	37	9	131733202	131733202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:131733202C>T	ENST00000372577.2	+	11	1099	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	360					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTACTTGACCCGATTGCTCCA	0.517																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(1078-1080)Cga>Tga		nucleoporin 188kDa							143.0	131.0	135.0					9																	131733202		2203	4300	6503	SO:0001587	stop_gained	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131733202C>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1078C>T	9.37:g.131733202C>T	ENSP00000361658:p.Arg360*						p.R360*	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			11	1099	+			360					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Nonsense_Mutation	SNP	ENST00000372577.2	37	c.1078C>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353514	0.95830	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	.	.	.	5.61	5.61	0.85477	.	0.393509	0.26631	N	0.023308	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-4.7472	14.1502	0.65378	0.1594:0.8406:0.0:0.0	.	.	.	.	X	249;360	.	ENSP00000349125:R249X	R	+	1	2	NUP188	130773023	0.460000	0.25776	0.932000	0.37286	0.637000	0.38172	1.409000	0.34680	2.643000	0.89663	0.462000	0.41574	CGA		0.517	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			5	318	0	0	0	1	0	5	318				
TYR	7299	broad.mit.edu	37	11	88911546	88911546	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:88911546A>T	ENST00000263321.5	+	1	927	c.425A>T	c.(424-426)aAg>aTg	p.K142M	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	142			K -> N (in dbSNP:rs11545463).		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	ACTTTAGCAAAGCATACCATC	0.433																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	GRCh37	CM090084	TYR	M		c.(424-426)aAg>aTg		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						151.0	143.0	146.0					11																	88911546		2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911546A>T	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.425A>T	11.37:g.88911546A>T	ENSP00000263321:p.Lys142Met					TYR_ENST00000526139.1_3'UTR	p.K142M	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			1	927	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	142		K -> N (in dbSNP:rs11545463).			Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.425A>T	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354772	0.61293	.	.	ENSG00000077498	ENST00000263321	D	0.99113	-5.44	5.97	5.97	0.96955	Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99524	0.9830	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98134	1.0432	9	.	.	.	.	16.4473	0.83942	1.0:0.0:0.0:0.0	.	142	P14679	TYRO_HUMAN	M	142	ENSP00000263321:K142M	.	K	+	2	0	TYR	88551194	1.000000	0.71417	0.294000	0.24946	0.391000	0.30476	8.808000	0.91939	2.281000	0.76405	0.533000	0.62120	AAG		0.433	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		7	596	0	0	0	1	0	7	596				
PHIP	55023	broad.mit.edu	37	6	79735787	79735787	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:79735787G>C	ENST00000275034.4	-	8	862	c.695C>G	c.(694-696)gCt>gGt	p.A232G		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	232					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATAGTTTACAGCCATGTCTGA	0.438																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(694-696)gCt>gGt		pleckstrin homology domain interacting protein							439.0	403.0	415.0					6																	79735787		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79735787G>C	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.695C>G	6.37:g.79735787G>C	ENSP00000275034:p.Ala232Gly						p.A232G	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	8	862	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	232					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.695C>G	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153015	0.94645	.	.	ENSG00000146247	ENST00000275034	T	0.64438	-0.1	5.46	5.46	0.80206	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.67869	0.2939	L	0.55743	1.74	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.62298	0.9;0.9	T	0.65590	-0.6131	9	.	.	.	-17.551	18.2938	0.90138	0.0:0.0:1.0:0.0	.	232;232	A7J992;Q8WWQ0	.;PHIP_HUMAN	G	232	ENSP00000275034:A232G	.	A	-	2	0	PHIP	79792506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.553000	0.86117	0.650000	0.86243	GCT		0.438	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			14	1123	0	0	0	1	0	14	1123				
CXCR1	3577	broad.mit.edu	37	2	219029550	219029550	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:219029550C>T	ENST00000295683.2	-	2	505	c.385G>A	c.(385-387)Gcc>Acc	p.A129T		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	129					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	CTGATGCAGGCCAACAGCAGG	0.547																																						ENST00000295683.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(385-387)Gcc>Acc		chemokine (C-X-C motif) receptor 1							139.0	117.0	125.0					2																	219029550		2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029550C>T	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.385G>A	2.37:g.219029550C>T	ENSP00000295683:p.Ala129Thr						p.A129T	NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN			2	505	-			129					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.385G>A	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932596	0.73442	.	.	ENSG00000163464	ENST00000295683	T	0.70986	-0.53	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	L	0.28608	0.87	0.53688	D	0.999973	D	0.56287	0.975	D	0.63877	0.919	T	0.70854	-0.4759	10	0.24483	T	0.36	.	17.8304	0.88680	0.0:1.0:0.0:0.0	.	129	P25024	CXCR1_HUMAN	T	129	ENSP00000295683:A129T	ENSP00000295683:A129T	A	-	1	0	CXCR1	218737795	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	3.212000	0.51145	2.503000	0.84419	0.655000	0.94253	GCC		0.547	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		4	116	0	0	0	1	0	4	116				
ACSM5	54988	broad.mit.edu	37	16	20435393	20435393	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:20435393T>A	ENST00000331849.4	+	6	1068		c.e6+2			NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5						fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ATCCTGAATGTAAGAGGAAAA	0.438																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.e6+2		acyl-CoA synthetase medium-chain family member 5							75.0	63.0	67.0					16																	20435393		2203	4300	6503	SO:0001630	splice_region_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20435393T>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.921+2T>A	16.37:g.20435393T>A								NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			6	1068	+								Q96AV1|Q96CX8|Q9NWV3	Splice_Site	SNP	ENST00000331849.4	37		CCDS10585.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.708401	0.68615	.	.	ENSG00000183549	ENST00000331849	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7392	0.62838	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACSM5	20342894	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	6.078000	0.71282	1.894000	0.54839	0.533000	0.62120	.		0.438	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888	Intron	7	205	0	0	0	1	0	7	205				
DPAGT1	1798	broad.mit.edu	37	11	118971086	118971086	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:118971086C>T	ENST00000409993.2	-	6	2080	c.529G>A	c.(529-531)Gca>Aca	p.A177T	DPAGT1_ENST00000354202.4_Missense_Mutation_p.A177T|DPAGT1_ENST00000432443.2_Missense_Mutation_p.A70T|DPAGT1_ENST00000445653.1_5'Flank			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	177					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CAGAACACTGCCAGCAGCCCC	0.468											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000409993.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17						c.(529-531)Gca>Aca		dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)							90.0	87.0	88.0					11																	118971086		2200	4295	6495	SO:0001583	missense	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118971086C>T	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.529G>A	11.37:g.118971086C>T	ENSP00000386597:p.Ala177Thr		OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	DPAGT1_ENST00000354202.4_Missense_Mutation_p.A177T|DPAGT1_ENST00000432443.2_Missense_Mutation_p.A70T	p.A177T			Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	6	2080	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	177					O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	c.529G>A	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	C	36	5.625054	0.96660	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.94046	-3.34;-3.34;-3.34	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.94768	0.8311	L	0.60012	1.86	0.80722	D	1	P;P	0.42248	0.774;0.774	P;P	0.51742	0.585;0.678	D	0.94127	0.7385	10	0.46703	T	0.11	-6.4993	18.6978	0.91607	0.0:1.0:0.0:0.0	.	70;177	E7EW40;Q9H3H5	.;GPT_HUMAN	T	177;177;70	ENSP00000386597:A177T;ENSP00000346142:A177T;ENSP00000404036:A70T	ENSP00000346142:A177T	A	-	1	0	DPAGT1	118476296	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.652000	0.90054	0.655000	0.94253	GCA		0.468	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		7	321	0	0	0	1	0	7	321				
TANC1	85461	broad.mit.edu	37	2	160086803	160086803	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:160086803T>A	ENST00000263635.6	+	27	5103	c.4866T>A	c.(4864-4866)agT>agA	p.S1622R	TANC1_ENST00000454300.1_Missense_Mutation_p.S1516R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1622					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTTTACCAAGTAAGACGAAAA	0.602																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(4864-4866)agT>agA		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							47.0	53.0	51.0					2																	160086803		2007	4175	6182	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160086803T>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4866T>A	2.37:g.160086803T>A	ENSP00000263635:p.Ser1622Arg					TANC1_ENST00000454300.1_Missense_Mutation_p.S1516R	p.S1622R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			27	5103	+			1622					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.4866T>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	T	1.662	-0.511131	0.04231	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.70164	-0.46;-0.45	5.86	3.09	0.35607	.	0.435941	0.31685	N	0.007221	T	0.48786	0.1519	L	0.40543	1.245	0.09310	N	1	P	0.35077	0.483	B	0.30251	0.113	T	0.33033	-0.9884	9	.	.	.	.	5.1099	0.14804	0.0:0.5419:0.1407:0.3174	.	1622	Q9C0D5	TANC1_HUMAN	R	1516;1622	ENSP00000396339:S1516R;ENSP00000263635:S1622R	.	S	+	3	2	TANC1	159795049	0.995000	0.38212	0.210000	0.23637	0.037000	0.13140	0.919000	0.28692	0.375000	0.24679	-0.242000	0.12053	AGT		0.602	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			8	274	0	0	0	1	0	8	274				
RCL1	10171	broad.mit.edu	37	9	4826861	4826861	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:4826861C>T	ENST00000381750.4	+	3	435	c.212C>T	c.(211-213)aCa>aTa	p.T71I	RCL1_ENST00000381732.3_Missense_Mutation_p.T71I	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	71					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)	p.T71I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		GTTTAAGGAACAACCTTATAT	0.443																																						ENST00000381750.4																			1	Substitution - Missense(1)	p.T71I(1)	kidney(1)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(211-213)aCa>aTa		RNA terminal phosphate cyclase-like 1							213.0	210.0	211.0					9																	4826861		2203	4300	6503	SO:0001583	missense	10171				ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity	g.chr9:4826861C>T	AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.212C>T	9.37:g.4826861C>T	ENSP00000371169:p.Thr71Ile					RCL1_ENST00000381732.3_Missense_Mutation_p.T71I	p.T71I	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN		GBM - Glioblastoma multiforme(50;0.0244)	3	435	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)	71					D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Missense_Mutation	SNP	ENST00000381750.4	37	c.212C>T	CCDS6456.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892359	0.91889	.	.	ENSG00000120158	ENST00000381750;ENST00000381732	.	.	.	5.92	5.92	0.95590	-terminal phosphate cyclase-like, eukaryotic (2);-terminal phosphate cyclase domain (2);RNA 3&apos (6);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.000000	0.85682	D	0.000000	D	0.89332	0.6685	H	0.95816	3.725	0.80722	D	1	D	0.59767	0.986	D	0.67103	0.949	D	0.91513	0.5228	9	0.87932	D	0	-20.5181	20.3343	0.98733	0.0:1.0:0.0:0.0	.	71	Q9Y2P8	RCL1_HUMAN	I	71	.	ENSP00000371151:T71I	T	+	2	0	RCL1	4816861	1.000000	0.71417	0.968000	0.41197	0.992000	0.81027	7.459000	0.80802	2.822000	0.97130	0.650000	0.86243	ACA		0.443	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051587.1	NM_005772		9	255	0	0	0	1	0	9	255				
HACE1	57531	broad.mit.edu	37	6	105298815	105298815	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:105298815C>T	ENST00000262903.4	-	3	464	c.188G>A	c.(187-189)cGt>cAt	p.R63H	HACE1_ENST00000369125.2_Missense_Mutation_p.R63H	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	63					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TCTTTTCACACGTCCGAATGC	0.333																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(187-189)cGt>cAt		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							195.0	195.0	195.0					6																	105298815		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105298815C>T	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.188G>A	6.37:g.105298815C>T	ENSP00000262903:p.Arg63His					HACE1_ENST00000369125.2_Missense_Mutation_p.R63H	p.R63H	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	3	464	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	63					A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.188G>A	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503423	0.85176	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000519645;ENST00000524020	T;T;T;T	0.71579	-0.58;-0.58;-0.58;1.55	5.97	5.97	0.96955	Ankyrin repeat-containing domain (2);	0.106803	0.64402	D	0.000007	T	0.62551	0.2437	L	0.31476	0.935	0.80722	D	1	D;D	0.53151	0.958;0.958	P;P	0.48921	0.595;0.467	T	0.67883	-0.5555	10	0.87932	D	0	.	19.2102	0.93751	0.0:1.0:0.0:0.0	.	63;63	E9PGP0;Q8IYU2	.;HACE1_HUMAN	H	63;63;63;29	ENSP00000262903:R63H;ENSP00000358121:R63H;ENSP00000429765:R63H;ENSP00000427901:R29H	ENSP00000262903:R63H	R	-	2	0	HACE1	105405508	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.977000	0.76141	2.836000	0.97738	0.655000	0.94253	CGT		0.333	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		10	717	0	0	0	1	0	10	717				
TRIM33	51592	broad.mit.edu	37	1	114968131	114968131	+	Silent	SNP	A	A	T	rs539491304		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:114968131A>T	ENST00000358465.2	-	9	1718	c.1635T>A	c.(1633-1635)acT>acA	p.T545T	TRIM33_ENST00000450349.2_Silent_p.T153T|TRIM33_ENST00000369543.2_Silent_p.T545T	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	545	Poly-Thr.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGTTGTTGTAGTTGGTACAG	0.428			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1633-1635)acT>acA		tripartite motif containing 33							329.0	310.0	316.0					1																	114968131		2203	4300	6503	SO:0001819	synonymous_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968131A>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1635T>A	1.37:g.114968131A>T						TRIM33_ENST00000450349.2_Silent_p.T153T|TRIM33_ENST00000369543.2_Silent_p.T545T	p.T545T	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1718	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	545			Poly-Thr.		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.1635T>A	CCDS872.1	.	.	.	.	.	.	.	.	.	.	A	1.505	-0.551091	0.03996	.	.	ENSG00000197323	ENST00000448034	.	.	.	4.86	-7.91	0.01165	.	.	.	.	.	T	0.04861	0.0131	.	.	.	0.28657	N	0.906343	.	.	.	.	.	.	T	0.22765	-1.0207	4	.	.	.	-1.6547	0.3179	0.00298	0.3705:0.158:0.215:0.2564	.	.	.	.	Q	282	.	.	L	-	2	0	TRIM33	114769654	0.345000	0.24835	0.755000	0.31263	0.205000	0.24178	-0.705000	0.05052	-1.148000	0.02847	-1.721000	0.00707	CTA		0.428	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		8	520	0	0	0	1	0	8	520				
SLC30A6	55676	broad.mit.edu	37	2	32429660	32429660	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:32429660A>T	ENST00000282587.5	+	11	704	c.667A>T	c.(667-669)Aat>Tat	p.N223Y	SLC30A6_ENST00000538303.1_Splice_Site_p.N194Y|SLC30A6_ENST00000357055.3_Splice_Site_p.N26Y|SLC30A6_ENST00000406369.1_Splice_Site_p.N149Y|SLC30A6_ENST00000435660.1_Splice_Site_p.N223Y|SLC30A6_ENST00000379343.2_Splice_Site_p.N263Y	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	223					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCTTTTAGTAATTATTTTGC	0.343																																						ENST00000282587.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e11-1		solute carrier family 30 (zinc transporter), member 6							91.0	84.0	86.0					2																	32429660		2203	4300	6503	SO:0001630	splice_region_variant	55676					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	g.chr2:32429660A>T	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.666-1A>T	2.37:g.32429660A>T						SLC30A6_ENST00000538303.1_Splice_Site_p.N194_splice|SLC30A6_ENST00000379343.2_Splice_Site_p.N263_splice|SLC30A6_ENST00000357055.3_Splice_Site_p.N26_splice|SLC30A6_ENST00000435660.1_Splice_Site_p.N223_splice|SLC30A6_ENST00000406369.1_Splice_Site_p.N149_splice	p.N223_splice	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN			11	704	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		223					A5YM45|B7Z901|Q8N5C9|Q96NC3	Splice_Site	SNP	ENST00000282587.5	37	c.665_splice	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027087	0.75390	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	T;T;T;T;T;T	0.64991	-0.04;-0.04;-0.04;-0.04;-0.13;-0.04	5.39	5.39	0.77823	.	0.049459	0.85682	D	0.000000	T	0.65481	0.2695	L	0.28556	0.865	0.58432	D	0.999993	P;P;P;P	0.48640	0.842;0.81;0.913;0.904	P;P;P;P	0.55999	0.748;0.632;0.789;0.748	T	0.69431	-0.5147	10	0.72032	D	0.01	-10.9842	15.0759	0.72077	1.0:0.0:0.0:0.0	.	194;223;263;223	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	Y	263;223;223;194;26;149	ENSP00000368648:N263Y;ENSP00000282587:N223Y;ENSP00000399005:N223Y;ENSP00000440678:N194Y;ENSP00000349563:N26Y;ENSP00000384041:N149Y	ENSP00000282587:N223Y	N	+	1	0	SLC30A6	32283164	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.803000	0.75180	2.041000	0.60428	0.460000	0.39030	AAT		0.343	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2		Missense_Mutation	3	43	0	0	0	1	0	3	43				
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000432451.2_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_ENST00000534972.1_Splice_Site|BPIFC_ENST00000432451.2_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	3	42	0	0	0	1	0	3	42				
MCM10	55388	broad.mit.edu	37	10	13214430	13214430	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:13214430T>A	ENST00000484800.2	+	4	507	c.404T>A	c.(403-405)gTa>gAa	p.V135E	MCM10_ENST00000378714.3_Missense_Mutation_p.V135E|MCM10_ENST00000378694.1_Missense_Mutation_p.V135E			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	135	N-terminal domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CAGCTAAAAGTAACAACAATT	0.378																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(403-405)gTa>gAa		minichromosome maintenance complex component 10							112.0	122.0	118.0					10																	13214430		2203	4300	6503	SO:0001583	missense	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13214430T>A	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.404T>A	10.37:g.13214430T>A	ENSP00000418268:p.Val135Glu					MCM10_ENST00000378714.3_Missense_Mutation_p.V135E|MCM10_ENST00000484800.2_Missense_Mutation_p.V135E	p.V135E			Q7L590	MCM10_HUMAN			3	479	+			135					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	c.404T>A	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	T	6.683	0.494681	0.12702	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000479669;ENST00000378694	T;T;T;T	0.43294	2.63;2.57;0.95;2.62	5.72	-1.31	0.09230	.	1.157440	0.06139	N	0.672111	T	0.17066	0.0410	N	0.08118	0	0.09310	N	1	B;B;B	0.18610	0.013;0.022;0.029	B;B;B	0.15870	0.01;0.014;0.006	T	0.21999	-1.0229	10	0.02654	T	1	-19.3997	4.677	0.12717	0.2767:0.3046:0.0:0.4187	.	135;135;135	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	E	135;135;135;55;135	ENSP00000367986:V135E;ENSP00000418268:V135E;ENSP00000417094:V55E;ENSP00000367966:V135E	ENSP00000354945:V135E	V	+	2	0	MCM10	13254436	0.852000	0.29690	0.000000	0.03702	0.088000	0.18126	0.438000	0.21559	-0.121000	0.11787	-0.371000	0.07208	GTA		0.378	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		8	367	0	0	0	1	0	8	367				
C20orf196	149840	broad.mit.edu	37	20	5843977	5843977	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:5843977G>A	ENST00000303142.6	+	3	573	c.486G>A	c.(484-486)agG>agA	p.R162R		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	162										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						TCTTACAGAGGCATTCCAGGG	0.507																																						ENST00000303142.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(484-486)agG>agA		chromosome 20 open reading frame 196							76.0	73.0	74.0					20																	5843977		2203	4300	6503	SO:0001819	synonymous_variant	149840							g.chr20:5843977G>A	AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.486G>A	20.37:g.5843977G>A							p.R162R	NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN			3	573	+			162					A8K9J3|Q5TGA9|Q96LU1	Silent	SNP	ENST00000303142.6	37	c.486G>A	CCDS13091.1																																																																																				0.507	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077882.2	NM_152504		7	498	0	0	0	1	0	7	498				
RALA	5898	broad.mit.edu	37	7	39729979	39729979	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:39729979A>T	ENST00000005257.2	+	3	494		c.e3-1		RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)						actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						TATCTTTTCTAGTTTGTGGAG	0.358																																						ENST00000005257.2																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						c.e3-1		v-ral simian leukemia viral oncogene homolog A (ras related)							54.0	59.0	57.0					7																	39729979		2203	4300	6503	SO:0001630	splice_region_variant	5898				actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity	g.chr7:39729979A>T		CCDS5460.1	7p22-p15	2014-05-09			ENSG00000006451	ENSG00000006451			9839	protein-coding gene	gene with protein product	"""RAS-like protein A"", ""Ras-related protein Ral-A"", ""Ras family small GTP binding protein RALA"", ""ras related GTP binding protein A"""	179550		RAL		3292391	Standard	NM_005402		Approved		uc003thd.3	P11233	OTTHUMG00000128775	ENST00000005257.2:c.115-1A>T	7.37:g.39729979A>T						RALA_ENST00000468201.1_Intron		NM_005402.3	NP_005393.2	P11233	RALA_HUMAN			3	494	+								A4D1W3	Splice_Site	SNP	ENST00000005257.2	37		CCDS5460.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013888	0.75161	.	.	ENSG00000006451	ENST00000005257;ENST00000436179	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6906	0.69083	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RALA	39696504	1.000000	0.71417	0.934000	0.37439	0.945000	0.59286	9.087000	0.94110	2.059000	0.61396	0.379000	0.24179	.		0.358	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250696.2	NM_005402	Intron	5	216	0	0	0	1	0	5	216				
DLGAP3	58512	broad.mit.edu	37	1	35370208	35370208	+	Silent	SNP	G	G	A	rs528838610		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:35370208G>A	ENST00000373347.1	-	3	1045	c.777C>T	c.(775-777)ggC>ggT	p.G259G	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_Silent_p.G259G			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	259					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AACTCCACCAGCCTGTGGACT	0.652																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(775-777)ggC>ggT		discs, large (Drosophila) homolog-associated protein 3							125.0	114.0	118.0					1																	35370208		2203	4300	6503	SO:0001819	synonymous_variant	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370208G>A	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.777C>T	1.37:g.35370208G>A						DLGAP3_ENST00000235180.4_Silent_p.G259G	p.G259G			O95886	DLGP3_HUMAN			3	1045	-		Myeloproliferative disorder(586;0.0393)	259					Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	37	c.777C>T	CCDS30670.1																																																																																				0.652	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		4	231	0	0	0	1	0	4	231				
PHF20L1	51105	broad.mit.edu	37	8	133858024	133858024	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:133858024A>T	ENST00000395386.2	+	21	3210		c.e21-1		AF230666.2_ENST00000429151.1_RNA|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000220847.7_Splice_Site|PHF20L1_ENST00000395390.2_Splice_Site	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1								zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCTCTCTTTTAGTTCTGGAAA	0.413																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.e21-1		PHD finger protein 20-like 1							92.0	82.0	85.0					8																	133858024		1850	4091	5941	SO:0001630	splice_region_variant	51105						nucleic acid binding|zinc ion binding	g.chr8:133858024A>T	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2912-1A>T	8.37:g.133858024A>T						PHF20L1_ENST00000395390.2_Splice_Site|PHF20L1_ENST00000220847.7_Splice_Site		NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		21	3210	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)							A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Splice_Site	SNP	ENST00000395386.2	37		CCDS6367.2	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276842	0.59758	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8926	0.70620	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHF20L1	133927206	1.000000	0.71417	0.988000	0.46212	0.902000	0.53008	8.962000	0.93254	2.178000	0.69098	0.533000	0.62120	.		0.413	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018	Intron	7	72	0	0	0	1	0	7	72				
TUBB4A	10382	broad.mit.edu	37	19	6495567	6495567	+	Missense_Mutation	SNP	C	C	T	rs373302095		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:6495567C>T	ENST00000264071.2	-	4	1314	c.943G>A	c.(943-945)Gcc>Acc	p.A315T	CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.A315T|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	315					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A315T(1)									CGGAACACGGCGGCCACGGTC	0.647																																						ENST00000264071.2																			1	Substitution - Missense(1)	p.A315T(1)	lung(1)								c.(943-945)Gcc>Acc		tubulin, beta 4A class IVa		C	THR/ALA	0,4406		0,0,2203	90.0	80.0	84.0		943	3.5	1.0	19		84	1,8599		0,1,4299	no	missense	TUBB4	NM_006087.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	315/445	6495567	1,13005	2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495567C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.943G>A	19.37:g.6495567C>T	ENSP00000264071:p.Ala315Thr					TUBB4A_ENST00000540257.1_Missense_Mutation_p.A315T	p.A315T			P04350	TBB4_HUMAN			4	1314	-			315					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.943G>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180492	0.38511	0.0	1.16E-4	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.84223	-1.82;-1.82	3.54	3.54	0.40534	.	0.000000	0.64402	D	0.000002	T	0.81221	0.4777	L	0.43554	1.36	0.54753	D	0.999983	B	0.19331	0.035	B	0.25987	0.065	T	0.80507	-0.1352	10	0.87932	D	0	.	13.9263	0.63964	0.0:1.0:0.0:0.0	.	315	P04350	TBB4A_HUMAN	T	315;315;233	ENSP00000264071:A315T;ENSP00000443590:A315T	ENSP00000264071:A315T	A	-	1	0	TUBB4	6446567	1.000000	0.71417	0.995000	0.50966	0.915000	0.54546	4.789000	0.62446	1.548000	0.49413	0.306000	0.20318	GCC		0.647	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		5	111	0	0	0	1	0	5	111				
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T	rs375127172		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:223782769A>T	ENST00000357430.3	+	6	1093	c.562A>T	c.(562-564)Aca>Tca	p.T188S	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	188					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAGTTGTTACATTATATGC	0.348			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(562-564)Aca>Tca		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						120.0	116.0	118.0					2																	223782769		2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223782769A>T	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.562A>T	2.37:g.223782769A>T	ENSP00000350012:p.Thr188Ser					ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S|AC097461.4_ENST00000446709.1_RNA	p.T188S	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	6	1093	+		Renal(207;0.0183)	188					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.562A>T	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846478	0.91277	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.43294	0.95;0.95;0.95	5.22	5.22	0.72569	AMP-dependent synthetase/ligase (1);	0.097447	0.64402	D	0.000001	T	0.58963	0.2159	L	0.61036	1.89	0.80722	D	1	D	0.59357	0.985	D	0.66847	0.947	T	0.54642	-0.8263	10	0.25106	T	0.35	-17.5461	15.2561	0.73585	1.0:0.0:0.0:0.0	.	188	O95573	ACSL3_HUMAN	S	188;188;36	ENSP00000350012:T188S;ENSP00000375918:T188S;ENSP00000441643:T36S	ENSP00000350012:T188S	T	+	1	0	ACSL3	223491013	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	8.757000	0.91657	2.185000	0.69588	0.533000	0.62120	ACA		0.348	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		9	182	0	0	0	1	0	9	182				
TBC1D13	54662	broad.mit.edu	37	9	131565556	131565556	+	Missense_Mutation	SNP	C	C	T	rs575838476		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:131565556C>T	ENST00000372648.5	+	8	721	c.571C>T	c.(571-573)Cca>Tca	p.P191S	TBC1D13_ENST00000539497.1_Missense_Mutation_p.P10S|TBC1D13_ENST00000223865.8_Intron|TBC1D13_ENST00000466056.1_3'UTR	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	191	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						GAACTCTGTGCCATCATCCCT	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19454	0.0		0.0	False		,,,				2504	0.0					ENST00000372648.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						c.(571-573)Cca>Tca		TBC1 domain family, member 13							105.0	95.0	99.0					9																	131565556		2203	4300	6503	SO:0001583	missense	54662					intracellular	Rab GTPase activator activity	g.chr9:131565556C>T	AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.571C>T	9.37:g.131565556C>T	ENSP00000361731:p.Pro191Ser					TBC1D13_ENST00000223865.8_Intron|TBC1D13_ENST00000539497.1_Missense_Mutation_p.P10S|TBC1D13_ENST00000466056.1_3'UTR	p.P191S	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN			8	721	+			191			Rab-GAP TBC.		A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Missense_Mutation	SNP	ENST00000372648.5	37	c.571C>T	CCDS6911.1	.	.	.	.	.	.	.	.	.	.	C	8.536	0.872119	0.17322	.	.	ENSG00000107021	ENST00000372648;ENST00000539497	T;T	0.28666	1.6;1.61	5.36	1.08	0.20341	Rab-GAP/TBC domain (3);	0.211787	0.41823	N	0.000801	T	0.14614	0.0353	L	0.27053	0.805	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.30880	-0.9963	10	0.08381	T	0.77	-1.4881	4.8768	0.13660	0.0:0.4588:0.2898:0.2514	.	191	Q9NVG8	TBC13_HUMAN	S	191;10	ENSP00000361731:P191S;ENSP00000437751:P10S	ENSP00000361731:P191S	P	+	1	0	TBC1D13	130605377	0.057000	0.20700	0.001000	0.08648	0.006000	0.05464	1.228000	0.32588	-0.071000	0.12886	0.655000	0.94253	CCA		0.557	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1	NM_018201		6	316	0	0	0	1	0	6	316				
HUWE1	10075	broad.mit.edu	37	X	53588783	53588783	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:53588783G>A	ENST00000342160.3	-	54	7898	c.7441C>T	c.(7441-7443)Cga>Tga	p.R2481*	HUWE1_ENST00000262854.6_Nonsense_Mutation_p.R2481*			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2481	Asp-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CGCTCAAATCGGACCAAGGGA	0.478																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(7441-7443)Cga>Tga		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							143.0	106.0	119.0					X																	53588783		2203	4300	6503	SO:0001587	stop_gained	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53588783G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7441C>T	X.37:g.53588783G>A	ENSP00000340648:p.Arg2481*					HUWE1_ENST00000262854.6_Nonsense_Mutation_p.R2481*	p.R2481*			Q7Z6Z7	HUWE1_HUMAN			54	7898	-			2481			Asp-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Nonsense_Mutation	SNP	ENST00000342160.3	37	c.7441C>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	52|52	18.768522|18.768522	0.99910|0.99910	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.500981	.|0.18838	.|N	.|0.129741	T|.	0.39384|.	0.1076|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31447|.	-0.9943|.	3|.	.|0.02654	.|T	.|1	.|.	16.8602|16.8602	0.86016|0.86016	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	1514|2481	.|.	.|ENSP00000262854:R2481X	P|R	-|-	2|1	0|2	HUWE1|HUWE1	53605508|53605508	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.003000|9.003000	0.93577|0.93577	2.242000|2.242000	0.73789|0.73789	0.506000|0.506000	0.49869|0.49869	CCG|CGA		0.478	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		6	174	0	0	0	1	0	6	174				
ATP12A	479	broad.mit.edu	37	13	25283576	25283576	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr13:25283576G>C	ENST00000381946.3	+	18	2735	c.2568G>C	c.(2566-2568)aaG>aaC	p.K856N	ATP12A_ENST00000218548.6_Missense_Mutation_p.K862N			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	856					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		ACAAGAATAAGGACAGGCTGG	0.562																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(2584-2586)aaG>aaC		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						69.0	65.0	66.0					13																	25283576		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25283576G>C	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2568G>C	13.37:g.25283576G>C	ENSP00000371372:p.Lys856Asn					ATP12A_ENST00000381946.3_Missense_Mutation_p.K856N	p.K862N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	18	2919	+		Lung SC(185;0.0225)|Breast(139;0.077)	856					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.2586G>C	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	6.395	0.441059	0.12164	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.96041	-3.89;-3.89	5.92	-0.943	0.10395	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.467256	0.23777	N	0.044669	D	0.89924	0.6856	L	0.48642	1.525	0.31870	N	0.619811	B;B	0.12013	0.005;0.005	B;B	0.17979	0.02;0.01	T	0.79356	-0.1837	10	0.17369	T	0.5	.	6.1892	0.20513	0.5464:0.0:0.3189:0.1347	.	862;856	P54707-2;P54707	.;AT12A_HUMAN	N	862;856	ENSP00000218548:K862N;ENSP00000371372:K856N	ENSP00000218548:K862N	K	+	3	2	ATP12A	24181576	0.000000	0.05858	0.730000	0.30809	0.317000	0.28152	-1.096000	0.03353	-0.306000	0.08818	-0.140000	0.14226	AAG		0.562	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		32	35	0	0	0	1	0	32	35				
PKD2	5311	broad.mit.edu	37	4	88967931	88967931	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		4	109	0	0	0	1	0	4	109				
KIAA0355	9710	broad.mit.edu	37	19	34843708	34843708	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:34843708G>T	ENST00000299505.6	+	14	3934	c.3061G>T	c.(3061-3063)Gcc>Tcc	p.A1021S	AC010504.2_ENST00000591311.1_RNA	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	1021										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CCCAGTGTGGGCCGCAACCAA	0.652																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(3061-3063)Gcc>Tcc		KIAA0355							58.0	44.0	49.0					19																	34843708		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34843708G>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.3061G>T	19.37:g.34843708G>T	ENSP00000299505:p.Ala1021Ser					AC010504.2_ENST00000591311.1_RNA	p.A1021S	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			14	3934	+	Esophageal squamous(110;0.162)		1021					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.3061G>T	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	G	8.034	0.762346	0.15914	.	.	ENSG00000166398	ENST00000299505	T	0.21361	2.01	5.81	4.75	0.60458	.	0.126422	0.53938	D	0.000048	T	0.09069	0.0224	N	0.01576	-0.805	0.45806	D	0.998683	B	0.13594	0.008	B	0.15484	0.013	T	0.15549	-1.0433	10	0.87932	D	0	-15.6231	13.1822	0.59662	0.0:0.0:0.7555:0.2445	.	1021	O15063	K0355_HUMAN	S	1021	ENSP00000299505:A1021S	ENSP00000299505:A1021S	A	+	1	0	KIAA0355	39535548	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	5.114000	0.64648	2.761000	0.94854	0.585000	0.79938	GCC		0.652	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		6	56	1	0	8.12818e-05	1	8.45549e-05	6	56				
ZNF157	7712	broad.mit.edu	37	X	47271968	47271968	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:47271968G>A	ENST00000377073.3	+	4	582	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	166					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGAATGTCATGAATGTGGGAA	0.393																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(496-498)Gaa>Aaa		zinc finger protein 157							72.0	61.0	65.0					X																	47271968		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47271968G>A	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.496G>A	X.37:g.47271968G>A	ENSP00000366273:p.Glu166Lys						p.E166K	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	582	+			166					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.496G>A	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109647	0.56398	.	.	ENSG00000147117	ENST00000377073	T	0.07327	3.2	2.85	2.85	0.33270	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08714	0.0216	L	0.59912	1.85	0.09310	N	1	P	0.36199	0.543	B	0.23574	0.047	T	0.16808	-1.0390	9	0.52906	T	0.07	.	10.9439	0.47289	0.0:0.0:1.0:0.0	.	166	P51786	ZN157_HUMAN	K	166	ENSP00000366273:E166K	ENSP00000366273:E166K	E	+	1	0	ZNF157	47156912	0.000000	0.05858	0.915000	0.36163	0.992000	0.81027	0.366000	0.20365	1.703000	0.51240	0.462000	0.41574	GAA		0.393	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		10	94	0	0	0	1	0	10	94				
UTP20	27340	broad.mit.edu	37	12	101764897	101764897	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:101764897A>T	ENST00000261637.4	+	51	6923	c.6749A>T	c.(6748-6750)aAg>aTg	p.K2250M		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2250					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAAGTATCCAAGTTGGCAGTC	0.473																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(6748-6750)aAg>aTg		UTP20, small subunit (SSU) processome component, homolog (yeast)							149.0	142.0	144.0					12																	101764897		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101764897A>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6749A>T	12.37:g.101764897A>T	ENSP00000261637:p.Lys2250Met						p.K2250M	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			51	6923	+			2250					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.6749A>T	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.941651	0.53079	.	.	ENSG00000120800	ENST00000261637	T	0.67523	-0.27	5.77	4.61	0.57282	Armadillo-type fold (1);	0.151653	0.64402	D	0.000013	T	0.66036	0.2749	L	0.41710	1.295	0.41318	D	0.987152	P	0.47910	0.902	P	0.49887	0.625	T	0.67624	-0.5623	10	0.56958	D	0.05	-11.1496	12.9278	0.58270	0.8644:0.1356:0.0:0.0	.	2250	O75691	UTP20_HUMAN	M	2250	ENSP00000261637:K2250M	ENSP00000261637:K2250M	K	+	2	0	UTP20	100289028	1.000000	0.71417	0.998000	0.56505	0.722000	0.41435	3.545000	0.53648	0.980000	0.38523	0.533000	0.62120	AAG		0.473	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		5	248	0	0	0	1	0	5	248				
DSG2	1829	broad.mit.edu	37	18	29116293	29116293	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:29116293G>C	ENST00000261590.8	+	11	1761	c.1552G>C	c.(1552-1554)Gag>Cag	p.E518Q		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	518					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E518Q(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGTTACTGCAGAGGACCTGGA	0.468																																						ENST00000261590.8																			1	Substitution - Missense(1)	p.E518Q(1)	kidney(1)	breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(1552-1554)Gag>Cag		desmoglein 2							93.0	88.0	89.0					18																	29116293		1959	4170	6129	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29116293G>C	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1552G>C	18.37:g.29116293G>C	ENSP00000261590:p.Glu518Gln						p.E518Q	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		11	1761	+			518					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.1552G>C	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	9.035	0.988335	0.18966	.	.	ENSG00000046604	ENST00000261590	T	0.60920	0.15	5.89	-4.33	0.03677	.	0.706652	0.13222	N	0.404319	T	0.36441	0.0967	L	0.31476	0.935	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.30001	-0.9993	10	0.14252	T	0.57	.	10.373	0.44066	0.2105:0.4193:0.3702:0.0	.	518	Q14126	DSG2_HUMAN	Q	518	ENSP00000261590:E518Q	ENSP00000261590:E518Q	E	+	1	0	DSG2	27370291	0.000000	0.05858	0.001000	0.08648	0.397000	0.30659	-0.523000	0.06230	-0.736000	0.04831	0.655000	0.94253	GAG		0.468	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		47	128	0	0	0	1	0	47	128				
ITIH1	3697	broad.mit.edu	37	3	52824839	52824839	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:52824839T>G	ENST00000273283.2	+	20	2420	c.2396T>G	c.(2395-2397)tTg>tGg	p.L799W	ITIH1_ENST00000540715.1_Missense_Mutation_p.L657W|ITIH1_ENST00000405128.3_Missense_Mutation_p.L165W|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000537050.1_Missense_Mutation_p.L511W	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	799	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GAGGTTGTTTTGCACCGAGTG	0.612																																						ENST00000273283.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(2395-2397)tTg>tGg		inter-alpha-trypsin inhibitor heavy chain 1							200.0	164.0	176.0					3																	52824839		2203	4300	6503	SO:0001583	missense	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52824839T>G		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2396T>G	3.37:g.52824839T>G	ENSP00000273283:p.Leu799Trp					ITIH1_ENST00000405128.3_Missense_Mutation_p.L165W|ITIH1_ENST00000540715.1_Missense_Mutation_p.L657W|ITIH1_ENST00000537050.1_Missense_Mutation_p.L511W|ITIH1_ENST00000542827.1_3'UTR	p.L799W	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	20	2420	+			799			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	c.2396T>G	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500697	0.44455	.	.	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133;ENST00000405128	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	5.75	4.6	0.57074	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.000000	0.64402	D	0.000002	T	0.46132	0.1377	M	0.88105	2.93	0.21147	N	0.999771	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.995;1.0;0.98;1.0	T	0.47071	-0.9145	10	0.87932	D	0	-10.9289	10.641	0.45592	0.0:0.0757:0.0:0.9243	.	657;165;400;799	F5H165;B5MCP1;Q9P1C5;P19827	.;.;.;ITIH1_HUMAN	W	799;657;511;352;165	ENSP00000273283:L799W;ENSP00000443973:L657W;ENSP00000443847:L511W;ENSP00000395836:L352W;ENSP00000384589:L165W	ENSP00000273283:L799W	L	+	2	0	ITIH1	52799879	0.998000	0.40836	0.783000	0.31826	0.172000	0.22775	5.216000	0.65246	1.015000	0.39444	0.533000	0.62120	TTG		0.612	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		10	727	0	0	0	1	0	10	727				
SQRDL	58472	broad.mit.edu	37	15	45974674	45974674	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:45974674A>T	ENST00000260324.7	+	7	1250		c.e7-1		SQRDL_ENST00000568606.1_Splice_Site	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)						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 inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CTTTGTGTGTAGTATGAAATG	0.453																																						ENST00000260324.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.e7-1		sulfide quinone reductase-like (yeast)							95.0	87.0	90.0					15																	45974674		2198	4297	6495	SO:0001630	splice_region_variant	58472						oxidoreductase activity	g.chr15:45974674A>T	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.865-1A>T	15.37:g.45974674A>T						SQRDL_ENST00000568606.1_Splice_Site		NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	7	1250	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)						Q9UQM8	Splice_Site	SNP	ENST00000260324.7	37		CCDS10127.1	.	.	.	.	.	.	.	.	.	.	A	19.32	3.805698	0.70682	.	.	ENSG00000137767	ENST00000260324	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9196	0.70826	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SQRDL	43761966	1.000000	0.71417	0.991000	0.47740	0.909000	0.53808	9.287000	0.95975	2.264000	0.75181	0.533000	0.62120	.		0.453	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2		Intron	6	332	0	0	0	1	0	6	332				
SMAD5	4090	broad.mit.edu	37	5	135508242	135508242	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:135508242T>A	ENST00000545279.1	+	6	1255	c.895T>A	c.(895-897)Ttc>Atc	p.F299I	SMAD5_ENST00000545620.1_Missense_Mutation_p.F299I|SMAD5_ENST00000514641.2_3'UTR	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	299	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGTAGATGGATTCACAGATCC	0.348																																						ENST00000545279.1																			0				central_nervous_system(1)|large_intestine(4)|lung(3)	8						c.(895-897)Ttc>Atc		SMAD family member 5							176.0	168.0	171.0					5																	135508242		1853	4087	5940	SO:0001583	missense	4090				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr5:135508242T>A	U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000545279.1:c.895T>A	5.37:g.135508242T>A	ENSP00000441954:p.Phe299Ile					SMAD5_ENST00000514641.2_3'UTR|SMAD5_ENST00000545620.1_Missense_Mutation_p.F299I	p.F299I	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	1255	+			299			MH2.		O14688|Q15798|Q9UQA1	Missense_Mutation	SNP	ENST00000545279.1	37	c.895T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	34|34	5.363825|5.363825	0.95877|0.95877	.|.	.|.	ENSG00000113658|ENSG00000113658	ENST00000545279;ENST00000545620|ENST00000507637	D;D|.	0.98914|.	-5.23;-5.23|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85191|0.85191	0.5640|0.5640	M|M	0.91972|0.91972	3.26|3.26	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	P|.	0.57960|.	0.83|.	D|D	0.88357|0.88357	0.2985|0.2985	10|5	0.87932|.	D|.	0|.	.|.	16.5764|16.5764	0.84681|0.84681	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	299|.	F5GWU7|.	.|.	I|N	299|121	ENSP00000441954:F299I;ENSP00000446474:F299I|.	ENSP00000425018:F299I|.	F|I	+|+	1|2	0|0	SMAD5|SMAD5	135536141|135536141	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	6.256000|6.256000	0.72473|0.72473	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	TTC|ATT		0.348	SMAD5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005903		4	261	0	0	0	1	0	4	261				
TACC2	10579	broad.mit.edu	37	10	123843652	123843652	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:123843652C>T	ENST00000369005.1	+	4	1977	c.1637C>T	c.(1636-1638)cCa>cTa	p.P546L	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.P546L|TACC2_ENST00000334433.3_Missense_Mutation_p.P546L|TACC2_ENST00000515273.1_Missense_Mutation_p.P546L|TACC2_ENST00000453444.2_Missense_Mutation_p.P546L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	546	Pro-rich.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCAGAGGGCCACCGGGGCCA	0.597																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(1636-1638)cCa>cTa		transforming, acidic coiled-coil containing protein 2							94.0	93.0	93.0					10																	123843652		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123843652C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1637C>T	10.37:g.123843652C>T	ENSP00000358001:p.Pro546Leu					TACC2_ENST00000515603.1_Missense_Mutation_p.P546L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.P546L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.P546L|TACC2_ENST00000334433.3_Missense_Mutation_p.P546L	p.P546L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	1977	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	546			Pro-rich.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.1637C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785131	0.31593	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03035	4.1;4.07;4.08;4.1;4.07	5.2	3.16	0.36331	.	0.613515	0.12517	N	0.461973	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.37888	-0.9686	10	0.66056	D	0.02	-0.048	5.0991	0.14749	0.221:0.6719:0.0:0.1071	.	546;546;546	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	L	546;546;546;546;546;536	ENSP00000358001:P546L;ENSP00000424467:P546L;ENSP00000427618:P546L;ENSP00000334280:P546L;ENSP00000395048:P546L	ENSP00000334280:P546L	P	+	2	0	TACC2	123833642	0.000000	0.05858	0.018000	0.16275	0.003000	0.03518	0.869000	0.27996	2.439000	0.82584	0.561000	0.74099	CCA		0.597	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			3	23	0	0	0	1	0	3	23				
EFCAB2	84288	broad.mit.edu	37	1	245222709	245222709	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:245222709G>C	ENST00000366522.2	+	4	681	c.540G>C	c.(538-540)agG>agC	p.R180S	EFCAB2_ENST00000447569.2_Missense_Mutation_p.R44S|EFCAB2_ENST00000487845.1_3'UTR|EFCAB2_ENST00000366523.1_Missense_Mutation_p.R44S			Q5VUJ9	EFCB2_HUMAN	EF-hand calcium binding domain 2	180	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.R44S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			CAATTATCAGGTCATTAGGAT	0.418																																						ENST00000366522.2																			1	Substitution - Missense(1)	p.R44S(1)	kidney(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13						c.(538-540)agG>agC		EF-hand calcium binding domain 2							80.0	77.0	78.0					1																	245222709		2203	4300	6503	SO:0001583	missense	84288						calcium ion binding	g.chr1:245222709G>C	AB209286	CCDS31082.1, CCDS44341.1	1q44	2014-07-18			ENSG00000203666	ENSG00000203666		"""EF-hand domain containing"""	28166	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 8"""					23427265	Standard	NM_032328		Approved	MGC12458, DRC8, CFAP200	uc001ibc.2	Q5VUJ9	OTTHUMG00000040474	ENST00000366522.2:c.540G>C	1.37:g.245222709G>C	ENSP00000355479:p.Arg180Ser					EFCAB2_ENST00000447569.2_Missense_Mutation_p.R44S|EFCAB2_ENST00000487845.1_3'UTR|EFCAB2_ENST00000366523.1_Missense_Mutation_p.R44S	p.R180S			Q5VUJ9	EFCB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.015)		4	681	+	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		180			EF-hand 1.		B4DZE9|Q59G23|Q9BS36	Missense_Mutation	SNP	ENST00000366522.2	37	c.540G>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.14|19.14|19.14	3.769671|3.769671|3.769671	0.69992|0.69992|0.69992	.|.|.	.|.|.	ENSG00000203666|ENSG00000203666|ENSG00000203666	ENST00000551317;ENST00000425550|ENST00000366523;ENST00000366522;ENST00000447569|ENST00000366521	.|T;T;T|.	.|0.70399|.	.|-0.48;-0.48;-0.48|.	5.79|5.79|5.79	1.33|1.33|1.33	0.21861|0.21861|0.21861	.|EF-hand-like domain (1);|.	.|0.195116|.	.|0.39210|.	.|N|.	.|0.001427|.	T|T|T	0.74566|0.74566|0.74566	0.3733|0.3733|0.3733	M|M|M	0.86740|0.86740|0.86740	2.835|2.835|2.835	0.40845|0.40845|0.40845	D|D|D	0.983704|0.983704|0.983704	.|D;D;D;D|.	.|0.89917|.	.|0.999;0.999;1.0;0.999|.	.|D;D;D;D|.	.|0.79784|.	.|0.984;0.974;0.993;0.973|.	T|T|T	0.75360|0.75360|0.75360	-0.3345|-0.3345|-0.3345	5|10|5	.|0.87932|.	.|D|.	.|0|.	.|.|.	9.9636|9.9636|9.9636	0.41710|0.41710|0.41710	0.3314:0.0:0.6686:0.0|0.3314:0.0:0.6686:0.0|0.3314:0.0:0.6686:0.0	.|.|.	.|44;102;180;44|.	.|B4DZE9;B1AN33;Q5VUJ9;Q5VUJ9-2|.	.|.;.;EFCB2_HUMAN;.|.	A|S|L	36|44;180;44|103	.|ENSP00000355480:R44S;ENSP00000355479:R180S;ENSP00000408661:R44S|.	.|ENSP00000355479:R180S|.	G|R|V	+|+|+	2|3|1	0|2|0	EFCAB2|EFCAB2|EFCAB2	243289332|243289332|243289332	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.988000|0.988000|0.988000	0.46212|0.46212|0.46212	0.981000|0.981000|0.981000	0.71138|0.71138|0.71138	0.876000|0.876000|0.876000	0.28092|0.28092|0.28092	0.382000|0.382000|0.382000	0.24878|0.24878|0.24878	0.557000|0.557000|0.557000	0.71058|0.71058|0.71058	GGT|AGG|GTC		0.418	EFCAB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000097407.2			11	134	0	0	0	1	0	11	134				
TCF20	6942	broad.mit.edu	37	22	42608328	42608328	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:42608328A>T	ENST00000359486.3	-	1	3120	c.2984T>A	c.(2983-2985)gTt>gAt	p.V995D	TCF20_ENST00000335626.4_Missense_Mutation_p.V995D|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	995					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						CCGACCACCAACTCTGCCAGG	0.597																																						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.(2983-2985)gTt>gAt		transcription factor 20 (AR1)							43.0	48.0	46.0					22																	42608328		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42608328A>T	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.2984T>A	22.37:g.42608328A>T	ENSP00000352463:p.Val995Asp					TCF20_ENST00000335626.4_Missense_Mutation_p.V995D	p.V995D	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	3120	-			995					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.2984T>A	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.611671	0.28712	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.61040	0.14;0.14	5.92	4.89	0.63831	.	0.611918	0.15817	N	0.243209	T	0.48352	0.1495	N	0.14661	0.345	0.80722	D	1	B;B	0.30146	0.27;0.177	B;B	0.42319	0.186;0.383	T	0.53479	-0.8433	10	0.87932	D	0	-7.3755	9.3396	0.38071	0.8686:0.0:0.1314:0.0	.	995;995	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	D	995	ENSP00000352463:V995D;ENSP00000335561:V995D	ENSP00000335561:V995D	V	-	2	0	TCF20	40938272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.454000	0.44979	2.263000	0.75096	0.533000	0.62120	GTT		0.597	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		16	82	0	0	0	1	0	16	82				
RAI14	26064	broad.mit.edu	37	5	34814686	34814686	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:34814686A>T	ENST00000265109.3	+	12	1139		c.e12-1		RAI14_ENST00000506376.1_Splice_Site|RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTTCTTTTTTAGTTGAGTGAT	0.368																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.e12-1		retinoic acid induced 14							103.0	93.0	96.0					5																	34814686		2203	4300	6503	SO:0001630	splice_region_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34814686A>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.853-1A>T	5.37:g.34814686A>T						RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000506376.1_Splice_Site|RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000512629.1_Splice_Site		NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			12	1139	+	all_lung(31;0.000191)							E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Splice_Site	SNP	ENST00000265109.3	37		CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147539	0.77888	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAI14	34850443	1.000000	0.71417	0.989000	0.46669	0.830000	0.47004	6.041000	0.70988	2.367000	0.80283	0.528000	0.53228	.		0.368	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	Intron	5	46	0	0	0	1	0	5	46				
USP10	9100	broad.mit.edu	37	16	84812514	84812514	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:84812514C>T	ENST00000219473.7	+	14	2336	c.2223C>T	c.(2221-2223)caC>caT	p.H741H	USP10_ENST00000570191.1_Silent_p.H745H	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	741	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TCTACCATCACGGCAACAGTG	0.572																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(2221-2223)caC>caT		ubiquitin specific peptidase 10							31.0	30.0	31.0					16																	84812514		2107	4227	6334	SO:0001819	synonymous_variant	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84812514C>T	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.2223C>T	16.37:g.84812514C>T						USP10_ENST00000570191.1_Silent_p.H745H	p.H741H	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			14	2336	+			741					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	c.2223C>T	CCDS45537.1																																																																																				0.572	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			5	265	0	0	0	1	0	5	265				
TMC3	342125	broad.mit.edu	37	15	81650576	81650576	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:81650576G>A	ENST00000359440.5	-	7	792	c.657C>T	c.(655-657)atC>atT	p.I219I	TMC3_ENST00000558726.1_Silent_p.I219I|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CAGCTCTCCCGATCTTCCTCT	0.493																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(655-657)atC>atT		transmembrane channel-like 3							83.0	89.0	87.0					15																	81650576		1921	4128	6049	SO:0001819	synonymous_variant	342125					integral to membrane		g.chr15:81650576G>A	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.657C>T	15.37:g.81650576G>A						RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Silent_p.I219I|RP11-761I4.3_ENST00000559781.1_RNA	p.I219I			Q7Z5M5	TMC3_HUMAN			7	792	-			219						Silent	SNP	ENST00000359440.5	37	c.657C>T	CCDS45324.1																																																																																				0.493	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		9	1055	0	0	0	1	0	9	1055				
SENP7	57337	broad.mit.edu	37	3	101083837	101083837	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:101083837T>A	ENST00000394095.2	-	10	1372		c.e10-2		SENP7_ENST00000394091.1_Splice_Site|SENP7_ENST00000348610.3_Splice_Site|SENP7_ENST00000358203.3_Splice_Site|SENP7_ENST00000314261.7_Splice_Site|SENP7_ENST00000394094.2_Splice_Site	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7							intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAACAACAACTAAAACGGAAA	0.333																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.e10-2		SUMO1/sentrin specific peptidase 7							65.0	62.0	63.0					3																	101083837		2202	4296	6498	SO:0001630	splice_region_variant	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101083837T>A		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1319-2A>T	3.37:g.101083837T>A						SENP7_ENST00000314261.7_Splice_Site|SENP7_ENST00000394094.2_Splice_Site|SENP7_ENST00000394091.1_Splice_Site|SENP7_ENST00000348610.3_Splice_Site|SENP7_ENST00000358203.3_Splice_Site		NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			10	1372	-								A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Splice_Site	SNP	ENST00000394095.2	37		CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	17.22	3.333333	0.60853	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1164	0.53868	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SENP7	102566527	1.000000	0.71417	0.997000	0.53966	0.682000	0.39822	3.713000	0.54882	2.123000	0.65237	0.528000	0.53228	.		0.333	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	Intron	2	1	0	0	0	1	0	2	1				
PCDHGB1	56104	broad.mit.edu	37	5	140732084	140732084	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:140732084G>T	ENST00000523390.1	+	1	2257	c.2257G>T	c.(2257-2259)Gcc>Tcc	p.A753S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	753					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTATGTATTGCCTCTCATTC	0.512																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(2257-2259)Gcc>Tcc									96.0	94.0	94.0					5																	140732084		1966	4159	6125	SO:0001583	missense	56104							g.chr5:140732084G>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.2257G>T	5.37:g.140732084G>T	ENSP00000429273:p.Ala753Ser					PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	p.A753S	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2257	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.2257G>T	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	6.388	0.439709	0.12104	.	.	ENSG00000254221	ENST00000523390	T	0.47177	0.85	5.25	5.25	0.73442	.	.	.	.	.	T	0.45135	0.1327	L	0.45228	1.405	0.23537	N	0.997466	B;B	0.32620	0.378;0.104	B;B	0.38378	0.272;0.036	T	0.34925	-0.9809	9	0.27785	T	0.31	.	13.5954	0.61987	0.0:0.0:0.844:0.156	.	753;753	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	S	753	ENSP00000429273:A753S	ENSP00000429273:A753S	A	+	1	0	PCDHGB1	140712268	0.998000	0.40836	0.992000	0.48379	0.029000	0.11900	3.034000	0.49751	2.597000	0.87782	0.655000	0.94253	GCC		0.512	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		9	450	1	0	0.00136819	1	0.00140444	9	450				
SYK	6850	broad.mit.edu	37	9	93607832	93607832	+	Silent	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:93607832T>C	ENST00000375754.4	+	3	682	c.534T>C	c.(532-534)tcT>tcC	p.S178S	SYK_ENST00000375746.1_Silent_p.S178S|SYK_ENST00000375747.1_Silent_p.S178S|SYK_ENST00000375751.4_Silent_p.S178S	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	178	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GGGAAGAATCTGAGCAAATTG	0.498			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"""ETV6, ITK"""		"""MDS, peripheral T-cell lymphoma"""		0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(532-534)tcT>tcC		spleen tyrosine kinase							90.0	85.0	86.0					9																	93607832		2203	4300	6503	SO:0001819	synonymous_variant	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93607832T>C	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.534T>C	9.37:g.93607832T>C						SYK_ENST00000375747.1_Silent_p.S178S|SYK_ENST00000375751.4_Silent_p.S178S|SYK_ENST00000375746.1_Silent_p.S178S	p.S178S	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			3	682	+			178			SH2 2.			Silent	SNP	ENST00000375754.4	37	c.534T>C	CCDS6688.1																																																																																				0.498	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			3	127	0	0	0	1	0	3	127				
ZNF280C	55609	broad.mit.edu	37	X	129343631	129343631	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:129343631G>A	ENST00000370978.4	-	16	2191	c.2038C>T	c.(2038-2040)Ctc>Ttc	p.L680F		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	680					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.L680Y(1)|p.L680F(1)		endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GATTACCTGAGAGTTCCTGAA	0.323																																						ENST00000370978.4																			2	Substitution - Missense(2)	p.L680Y(1)|p.L680F(1)	kidney(2)	endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2038-2040)Ctc>Ttc		zinc finger protein 280C							102.0	105.0	104.0					X																	129343631		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129343631G>A	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.2038C>T	X.37:g.129343631G>A	ENSP00000360017:p.Leu680Phe						p.L680F	NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN			16	2191	-			680					A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.2038C>T	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	G	9.641	1.138892	0.21123	.	.	ENSG00000056277	ENST00000370978	T	0.02944	4.1	3.86	-2.45	0.06481	.	.	.	.	.	T	0.03390	0.0098	L	0.54323	1.7	0.09310	N	1	B	0.21309	0.054	B	0.25614	0.062	T	0.41716	-0.9493	9	0.72032	D	0.01	.	4.1791	0.10367	0.5163:0.0:0.1909:0.2928	.	680	Q8ND82	Z280C_HUMAN	F	680	ENSP00000360017:L680F	ENSP00000360017:L680F	L	-	1	0	ZNF280C	129171312	0.001000	0.12720	0.016000	0.15963	0.884000	0.51177	-0.018000	0.12568	-0.651000	0.05415	0.468000	0.43344	CTC		0.323	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		10	65	0	0	0	1	0	10	65				
GAS2	2620	broad.mit.edu	37	11	22759300	22759300	+	Silent	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:22759300C>A	ENST00000454584.2	+	5	764	c.459C>A	c.(457-459)ggC>ggA	p.G153G	GAS2_ENST00000433790.1_Silent_p.G153G|GAS2_ENST00000278187.3_Silent_p.G153G	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	153	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TAGAGCTTGGCCGGATTGCAG	0.473																																						ENST00000454584.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						c.(457-459)ggC>ggA		growth arrest-specific 2							155.0	131.0	139.0					11																	22759300		2203	4300	6503	SO:0001819	synonymous_variant	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22759300C>A	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.459C>A	11.37:g.22759300C>A						GAS2_ENST00000433790.1_Silent_p.G153G|GAS2_ENST00000278187.3_Silent_p.G153G	p.G153G	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN			5	764	+			153			CH.		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Silent	SNP	ENST00000454584.2	37	c.459C>A	CCDS7858.1																																																																																				0.473	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		9	351	1	0	4.68919e-08	1	5.10052e-08	9	351				
PRKD2	25865	broad.mit.edu	37	19	47204057	47204057	+	Splice_Site	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:47204057T>C	ENST00000291281.4	-	7	1345	c.1120A>G	c.(1120-1122)Agc>Ggc	p.S374G	PRKD2_ENST00000600194.1_Splice_Site_p.S217G|PRKD2_ENST00000433867.1_Splice_Site_p.S374G|PRKD2_ENST00000601806.1_Splice_Site_p.S217G|PRKD2_ENST00000595515.1_Splice_Site_p.S374G			Q9BZL6	KPCD2_HUMAN	protein kinase D2	374					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)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGTGTATACCTCTGGGCCTTG	0.552																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.e8+1		protein kinase D2							58.0	46.0	50.0					19																	47204057		2202	4300	6502	SO:0001630	splice_region_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47204057T>C	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1121+1A>G	19.37:g.47204057T>C						PRKD2_ENST00000595515.1_Splice_Site_p.S374_splice|PRKD2_ENST00000291281.4_Splice_Site_p.S374_splice|PRKD2_ENST00000600194.1_Splice_Site_p.S217_splice|PRKD2_ENST00000601806.1_Splice_Site_p.S217_splice	p.S374_splice	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	8	1597	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	374					Q8TB08|Q9P0T6|Q9Y3X8	Splice_Site	SNP	ENST00000291281.4	37	c.1121_splice	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.081157	0.36758	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.71461	-0.57;-0.57	4.28	4.28	0.50868	.	0.935236	0.09045	U	0.856619	T	0.64538	0.2607	L	0.52905	1.665	0.30533	N	0.76726	B;B	0.34015	0.161;0.435	B;B	0.32677	0.15;0.15	T	0.64837	-0.6313	10	0.56958	D	0.05	-21.1007	6.5523	0.22442	0.0:0.1069:0.0:0.8931	.	374;374	E7ER94;Q9BZL6	.;KPCD2_HUMAN	G	374	ENSP00000291281:S374G;ENSP00000393978:S374G	ENSP00000291281:S374G	S	-	1	0	PRKD2	51895897	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	2.681000	0.46926	1.941000	0.56285	0.454000	0.30748	AGC		0.552	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457	Missense_Mutation	3	176	0	0	0	1	0	3	176				
TNC	3371	broad.mit.edu	37	9	117840383	117840383	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:117840383C>T	ENST00000350763.4	-	7	2924	c.2513G>A	c.(2512-2514)gGc>gAc	p.G838D	TNC_ENST00000341037.4_Missense_Mutation_p.G838D|TNC_ENST00000340094.3_Missense_Mutation_p.G838D|TNC_ENST00000346706.3_Missense_Mutation_p.G838D|TNC_ENST00000423613.2_Missense_Mutation_p.G838D|TNC_ENST00000535648.1_Missense_Mutation_p.G838D|TNC_ENST00000542877.1_Missense_Mutation_p.G838D|TNC_ENST00000345230.3_Missense_Mutation_p.G838D|TNC_ENST00000537320.1_Missense_Mutation_p.G838D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	838	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTCTTTGATGCCGTAGGTCAG	0.562																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(2512-2514)gGc>gAc		tenascin C							217.0	160.0	180.0					9																	117840383		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117840383C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2513G>A	9.37:g.117840383C>T	ENSP00000265131:p.Gly838Asp					TNC_ENST00000423613.2_Missense_Mutation_p.G838D|TNC_ENST00000346706.3_Missense_Mutation_p.G838D|TNC_ENST00000341037.4_Missense_Mutation_p.G838D|TNC_ENST00000340094.3_Missense_Mutation_p.G838D|TNC_ENST00000537320.1_Missense_Mutation_p.G838D|TNC_ENST00000535648.1_Missense_Mutation_p.G838D|TNC_ENST00000542877.1_Missense_Mutation_p.G838D|TNC_ENST00000345230.3_Missense_Mutation_p.G838D	p.G838D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			7	2924	-			838			Fibronectin type-III 3.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.2513G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083802	0.76642	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.48	4.58	0.56647	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.106801	0.64402	D	0.000004	T	0.73946	0.3652	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75280	-0.3373	10	0.32370	T	0.25	.	16.6455	0.85176	0.0:0.8699:0.1301:0.0	.	838;838	E9PC84;P24821	.;TENA_HUMAN	D	838	ENSP00000344400:G838D;ENSP00000438152:G838D;ENSP00000344555:G838D;ENSP00000345861:G838D;ENSP00000265131:G838D;ENSP00000339553:G838D;ENSP00000411406:G838D;ENSP00000443478:G838D;ENSP00000442242:G838D	ENSP00000344400:G838D	G	-	2	0	TNC	116880204	0.985000	0.35326	0.156000	0.22583	0.855000	0.48748	2.914000	0.48797	1.433000	0.47394	0.655000	0.94253	GGC		0.562	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		20	1523	0	0	0	1	0	20	1523				
PXN	5829	broad.mit.edu	37	12	120651648	120651648	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:120651648G>A	ENST00000228307.7	-	11	1647	c.1506C>T	c.(1504-1506)tgC>tgT	p.C502C	PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000458477.2_Silent_p.C335C|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000424649.2_Silent_p.C468C|PXN_ENST00000397506.3_Silent_p.C314C|PXN_ENST00000267257.7_Silent_p.C516C|PXN_ENST00000536957.1_Silent_p.C500C|PXN-AS1_ENST00000539446.1_RNA	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	502	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTTACCCGGCACACAAAGC	0.607																																						ENST00000397506.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(940-942)tgC>tgT		paxillin							30.0	36.0	34.0					12																	120651648		2009	4160	6169	SO:0001819	synonymous_variant	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120651648G>A	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1506C>T	12.37:g.120651648G>A						PXN_ENST00000228307.7_Silent_p.C502C|PXN_ENST00000424649.2_Silent_p.C468C|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000267257.7_Silent_p.C516C|PXN_ENST00000458477.2_Silent_p.C335C|PXN_ENST00000536957.1_Silent_p.C500C	p.C314C			P49023	PAXI_HUMAN			8	1995	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		502					B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	ENST00000228307.7	37	c.942C>T	CCDS44997.1																																																																																				0.607	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		3	40	0	0	0	1	0	3	40				
NTRK3	4916	broad.mit.edu	37	15	88799246	88799246	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:88799246G>A	ENST00000360948.2	-	2	300	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	NTRK3_ENST00000540489.2_Missense_Mutation_p.R47W|NTRK3_ENST00000394480.2_Missense_Mutation_p.R47W|NTRK3_ENST00000357724.2_Missense_Mutation_p.R47W|NTRK3_ENST00000317501.3_Missense_Mutation_p.R47W|NTRK3_ENST00000558676.1_Missense_Mutation_p.R47W|NTRK3_ENST00000557856.1_Missense_Mutation_p.R47W|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000355254.2_Missense_Mutation_p.R47W	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	47					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCGTCCGGCCGCCGGCAATTG	0.557			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(139-141)Cgg>Tgg		neurotrophic tyrosine kinase, receptor, type 3							259.0	214.0	229.0					15																	88799246		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88799246G>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.139C>T	15.37:g.88799246G>A	ENSP00000354207:p.Arg47Trp	TSP Lung(13;0.10)				NTRK3_ENST00000558676.1_Missense_Mutation_p.R47W|NTRK3_ENST00000317501.3_Missense_Mutation_p.R47W|NTRK3_ENST00000357724.2_Missense_Mutation_p.R47W|NTRK3_ENST00000557856.1_Missense_Mutation_p.R47W|NTRK3_ENST00000540489.2_Missense_Mutation_p.R47W|NTRK3_ENST00000355254.2_Missense_Mutation_p.R47W|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000360948.2_Missense_Mutation_p.R47W	p.R47W	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		3	460	-			47					B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.139C>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559092	0.65538	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000540489;ENST00000317501	D;D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02;-4.02	3.85	2.73	0.32206	Leucine-rich repeat-containing N-terminal (2);	0.479656	0.14046	U	0.345118	D	0.93559	0.7944	N	0.14661	0.345	0.37496	D	0.916567	P;P;D;P;P	0.58620	0.484;0.764;0.983;0.947;0.919	B;B;P;B;P	0.55303	0.041;0.141;0.541;0.237;0.773	D	0.92952	0.6381	10	0.72032	D	0.01	.	8.4065	0.32619	0.0:0.0:0.5313:0.4687	.	47;47;47;47;47	E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	W	47	ENSP00000377990:R47W;ENSP00000354207:R47W;ENSP00000350356:R47W;ENSP00000347397:R47W;ENSP00000444673:R47W;ENSP00000318328:R47W	ENSP00000318328:R47W	R	-	1	2	NTRK3	86600250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.400000	0.66320	1.853000	0.53794	0.455000	0.32223	CGG		0.557	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				3	28	0	0	0	1	0	3	28				
USP34	9736	broad.mit.edu	37	2	61633050	61633050	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:61633050A>T	ENST00000398571.2	-	3	421	c.345T>A	c.(343-345)agT>agA	p.S115R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	115					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)			GTCTTTCTGTACTTCCTTCAT	0.328																																						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.(343-345)agT>agA		ubiquitin specific peptidase 34							169.0	149.0	155.0					2																	61633050		1833	4075	5908	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.chr2:61633050A>T	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.345T>A	2.37:g.61633050A>T	ENSP00000381577:p.Ser115Arg						p.S115R	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		3	421	-			115					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.345T>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.646873	0.47258	.	.	ENSG00000115464	ENST00000398571	T	0.14022	2.54	6.17	6.17	0.99709	.	.	.	.	.	T	0.09202	0.0227	N	0.14661	0.345	0.22827	N	0.998681	B	0.14438	0.01	B	0.14023	0.01	T	0.32640	-0.9899	9	0.19590	T	0.45	.	12.6398	0.56702	0.8623:0.1377:0.0:0.0	.	115	Q70CQ2	UBP34_HUMAN	R	115	ENSP00000381577:S115R	ENSP00000381577:S115R	S	-	3	2	USP34	61486554	0.957000	0.32711	0.998000	0.56505	0.962000	0.63368	2.503000	0.45407	2.371000	0.80710	0.533000	0.62120	AGT		0.328	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			6	214	0	0	0	1	0	6	214				
GLYATL1	92292	broad.mit.edu	37	11	58711084	58711084	+	5'UTR	SNP	G	G	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:58711084G>C	ENST00000317391.4	+	0	243				RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.R31S	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1							mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)	p.R31S(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	aacacggaaggtacctgcagg	0.458																																						ENST00000300079.5																			1	Substitution - Missense(1)	p.R31S(1)	kidney(1)	NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.(91-93)agG>agC		glycine-N-acyltransferase-like 1	Glycine(DB00145)						69.0	63.0	65.0					11																	58711084		2201	4295	6496	SO:0001623	5_prime_UTR_variant	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58711084G>C	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.-98G>C	11.37:g.58711084G>C						GLYATL1_ENST00000317391.4_5'UTR|RP11-142C4.6_ENST00000533954.1_RNA	p.R31S	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN			2	143	+			0					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.93G>C	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	0.286	-0.982887	0.02180	.	.	ENSG00000166840	ENST00000526351;ENST00000300079	T;T	0.53206	0.63;2.0	0.113	0.113	0.14631	.	.	.	.	.	T	0.24509	0.0594	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.12837	0.008	T	0.20371	-1.0277	8	0.72032	D	0.01	.	.	.	.	.	31	Q969I3-2	.	S	23;31	ENSP00000434652:R23S;ENSP00000300079:R31S	ENSP00000300079:R31S	R	+	3	2	GLYATL1	58467660	0.013000	0.17824	0.010000	0.14722	0.010000	0.07245	0.251000	0.18257	0.183000	0.20059	0.186000	0.17326	AGG		0.458	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		5	51	0	0	0	1	0	5	51				
DNAH3	55567	broad.mit.edu	37	16	21151890	21151890	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:21151890A>T	ENST00000261383.3	-	5	662	c.663T>A	c.(661-663)agT>agA	p.S221R	DNAH3_ENST00000415178.1_Missense_Mutation_p.S221R|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	221	Stem. {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)		TCTTTTCTTTACTTTCCATTT	0.483																																						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.(661-663)agT>agA		dynein, axonemal, heavy chain 3							263.0	216.0	232.0					16																	21151890		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21151890A>T	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.663T>A	16.37:g.21151890A>T	ENSP00000261383:p.Ser221Arg					DNAH3_ENST00000415178.1_Missense_Mutation_p.S221R|DNAH3_ENST00000575491.1_5'UTR	p.S221R	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	5	662	-			221			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.663T>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	1.240	-0.621491	0.03636	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.22134	1.97;2.12	5.07	0.217	0.15264	.	0.821541	0.11066	N	0.603468	T	0.13030	0.0316	L	0.42245	1.32	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.09377	0.001;0.004	T	0.35500	-0.9786	10	0.15952	T	0.53	.	2.0624	0.03595	0.2931:0.3915:0.0854:0.23	.	221;192	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	R	221;221;192	ENSP00000261383:S221R;ENSP00000394245:S221R	ENSP00000261383:S221R	S	-	3	2	DNAH3	21059391	0.234000	0.23783	0.010000	0.14722	0.035000	0.12851	-0.026000	0.12392	0.410000	0.25675	-0.331000	0.08364	AGT		0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		5	236	0	0	0	1	0	5	236				
NPL	80896	broad.mit.edu	37	1	182794914	182794914	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:182794914A>T	ENST00000367553.1	+	11	782		c.e11-1		NPL_ENST00000367552.2_Splice_Site|NPL_ENST00000367554.3_Splice_Site|NPL_ENST00000367555.1_Splice_Site|NPL_ENST00000258317.2_Splice_Site|NPL_ENST00000463899.1_Splice_Site	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)						carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						GTTCTTTTCTAGTTTTGTATC	0.338																																						ENST00000367554.3																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						c.e10-1		N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)							132.0	142.0	138.0					1																	182794914		2203	4300	6503	SO:0001630	splice_region_variant	80896				carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity	g.chr1:182794914A>T	AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.739-1A>T	1.37:g.182794914A>T						NPL_ENST00000367552.2_Splice_Site|NPL_ENST00000367555.1_Splice_Site|NPL_ENST00000367553.1_Splice_Site|NPL_ENST00000258317.2_Splice_Site|NPL_ENST00000463899.1_Splice_Site		NM_001200050.1	NP_001186979.1	Q9BXD5	NPL_HUMAN			10	999	+								B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Splice_Site	SNP	ENST00000367553.1	37		CCDS1350.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.719870	0.68844	.	.	ENSG00000135838	ENST00000367555;ENST00000445965;ENST00000367554;ENST00000367553;ENST00000367552;ENST00000258317	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0794	0.64912	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPL	181061537	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	5.342000	0.65970	2.148000	0.66965	0.460000	0.39030	.		0.338	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769	Intron	16	479	0	0	0	1	0	16	479				
TREM1	54210	broad.mit.edu	37	6	41250305	41250305	+	Silent	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:41250305A>G	ENST00000244709.4	-	2	297	c.234T>C	c.(232-234)caT>caC	p.H78H	TREM1_ENST00000589614.1_Silent_p.H78H|TREM1_ENST00000334475.6_Silent_p.H78H|TREM1_ENST00000591620.1_Silent_p.H78H	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	78	Ig-like V-type.				blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CTTGGACTGGATGGGAATTCT	0.493																																						ENST00000591620.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16						c.(232-234)caT>caC		triggering receptor expressed on myeloid cells 1	Glutathione(DB00143)						136.0	120.0	125.0					6																	41250305		2203	4300	6503	SO:0001819	synonymous_variant	54210				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity	g.chr6:41250305A>G	AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.234T>C	6.37:g.41250305A>G						TREM1_ENST00000244709.4_Silent_p.H78H|TREM1_ENST00000589614.1_Silent_p.H78H|TREM1_ENST00000334475.6_Silent_p.H78H	p.H78H	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN			2	260	-	Ovarian(28;0.0327)|Colorectal(47;0.196)		78			Ig-like V-type.		B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Silent	SNP	ENST00000244709.4	37	c.234T>C	CCDS4854.1																																																																																				0.493	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643		6	108	0	0	0	1	0	6	108				
VEPH1	79674	broad.mit.edu	37	3	157178080	157178080	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:157178080C>A	ENST00000362010.2	-	4	726	c.419G>T	c.(418-420)gGc>gTc	p.G140V	VEPH1_ENST00000468233.1_Missense_Mutation_p.G140V|VEPH1_ENST00000543418.1_Missense_Mutation_p.G140V|VEPH1_ENST00000537559.1_Missense_Mutation_p.G140V|VEPH1_ENST00000494677.1_Missense_Mutation_p.G140V|VEPH1_ENST00000392833.2_Missense_Mutation_p.G140V|VEPH1_ENST00000392832.2_Missense_Mutation_p.G140V	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	140						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTCCTTGTTGCCTCTGTGGAG	0.448																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(418-420)gGc>gTc		ventricular zone expressed PH domain-containing 1							110.0	103.0	105.0					3																	157178080		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157178080C>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.419G>T	3.37:g.157178080C>A	ENSP00000354919:p.Gly140Val					VEPH1_ENST00000392833.2_Missense_Mutation_p.G140V|VEPH1_ENST00000494677.1_Missense_Mutation_p.G140V|VEPH1_ENST00000537559.1_Missense_Mutation_p.G140V|VEPH1_ENST00000468233.1_Missense_Mutation_p.G140V|VEPH1_ENST00000543418.1_Missense_Mutation_p.G140V|VEPH1_ENST00000392832.2_Missense_Mutation_p.G140V	p.G140V	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		4	726	-			140					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.419G>T	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839287	0.91117	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000479987;ENST00000494677;ENST00000537559;ENST00000468233;ENST00000487753	T;T;T;T;T;T;T;T;T	0.55052	1.2;1.2;1.2;1.2;0.54;1.39;1.39;1.39;1.39	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.77557	0.99;0.912;0.976	T	0.78298	-0.2258	10	0.87932	D	0	-2.3228	18.6564	0.91455	0.0:1.0:0.0:0.0	.	140;140;140	Q14D04-2;Q14D04-3;Q14D04	.;.;MELT_HUMAN	V	140;140;140;140;28;140;140;140;140	ENSP00000376578:G140V;ENSP00000354919:G140V;ENSP00000446258:G140V;ENSP00000376577:G140V;ENSP00000418963:G28V;ENSP00000419193:G140V;ENSP00000443868:G140V;ENSP00000417268:G140V;ENSP00000420097:G140V	ENSP00000354919:G140V	G	-	2	0	VEPH1	158660774	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.380000	0.79704	2.385000	0.81259	0.655000	0.94253	GGC		0.448	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		30	342	1	0	4.02929e-09	1	4.42936e-09	30	342				
ADAMTS3	9508	broad.mit.edu	37	4	73205320	73205320	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:73205320G>A	ENST00000286657.4	-	5	788	c.752C>T	c.(751-753)gCg>gTg	p.A251V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	251					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A251V(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTTTCTCCCGCGTGTCTGCG	0.498																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			1	Substitution - Missense(1)	p.A251V(1)	breast(1)	NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(751-753)gCg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 3							266.0	254.0	258.0					4																	73205320		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73205320G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.752C>T	4.37:g.73205320G>A	ENSP00000286657:p.Ala251Val						p.A251V	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		5	788	-			251					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.752C>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254885	0.39896	.	.	ENSG00000156140	ENST00000286657	T	0.61040	0.14	5.31	5.31	0.75309	.	0.206543	0.40469	N	0.001094	T	0.61874	0.2382	M	0.73962	2.25	0.53688	D	0.999972	B	0.26708	0.157	B	0.31614	0.133	T	0.58239	-0.7671	10	0.22706	T	0.39	.	19.1722	0.93583	0.0:0.0:1.0:0.0	.	251	O15072	ATS3_HUMAN	V	251	ENSP00000286657:A251V	ENSP00000286657:A251V	A	-	2	0	ADAMTS3	73424184	1.000000	0.71417	0.306000	0.25113	0.020000	0.10135	6.546000	0.73887	2.763000	0.94921	0.563000	0.77884	GCG		0.498	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			7	268	0	0	0	1	0	7	268				
PPARGC1B	133522	broad.mit.edu	37	5	149200058	149200058	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:149200058G>A	ENST00000309241.5	+	2	173	c.141G>A	c.(139-141)ctG>ctA	p.L47L	PPARGC1B_ENST00000394320.3_Silent_p.L47L|PPARGC1B_ENST00000360453.4_Silent_p.L47L|PPARGC1B_ENST00000403750.1_Silent_p.L22L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	47	Abolishes DNA transcriptional activity when missing.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTCCCAGCTGGATGCCAGCG	0.582																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(139-141)ctG>ctA		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							103.0	103.0	103.0					5																	149200058		2203	4300	6503	SO:0001819	synonymous_variant	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149200058G>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.141G>A	5.37:g.149200058G>A						PPARGC1B_ENST00000360453.4_Silent_p.L47L|PPARGC1B_ENST00000394320.3_Silent_p.L47L|PPARGC1B_ENST00000403750.1_Silent_p.L22L	p.L47L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	173	+			47			Abolishes DNA transcriptional activity when missing.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	c.141G>A	CCDS4298.1																																																																																				0.582	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		7	460	0	0	0	1	0	7	460				
EHMT2	10919	broad.mit.edu	37	6	31864479	31864479	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:31864479C>T	ENST00000375537.4	-	3	238	c.232G>A	c.(232-234)Ggg>Agg	p.G78R	EHMT2_ENST00000375528.4_Missense_Mutation_p.G135R|C2_ENST00000469372.1_5'Flank|EHMT2_ENST00000375530.4_Missense_Mutation_p.G78R|EHMT2_ENST00000395728.3_Missense_Mutation_p.G135R|EHMT2_ENST00000480912.1_5'Flank	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	78					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GTGTCAGCCCCCTCATCACCA	0.617																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(403-405)Ggg>Agg		euchromatic histone-lysine N-methyltransferase 2							64.0	79.0	74.0					6																	31864479		1511	2709	4220	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31864479C>T	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.232G>A	6.37:g.31864479C>T	ENSP00000364687:p.Gly78Arg					EHMT2_ENST00000375528.4_Missense_Mutation_p.G135R|EHMT2_ENST00000375530.4_Missense_Mutation_p.G78R|EHMT2_ENST00000375537.4_Missense_Mutation_p.G78R	p.G135R			Q96KQ7	EHMT2_HUMAN			2	402	-			78					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.403G>A	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	c	14.76	2.630269	0.46944	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	2.98	2.06	0.26882	.	0.224883	0.23448	N	0.048069	T	0.06050	0.0157	N	0.08118	0	0.27383	N	0.955351	B;B;P;P	0.51933	0.0;0.033;0.949;0.914	B;B;B;B	0.39299	0.001;0.027;0.296;0.155	T	0.14227	-1.0480	10	0.72032	D	0.01	.	4.2146	0.10528	0.0:0.6206:0.2442:0.1353	.	135;78;78;78	A2ABF8;Q96KQ7-3;Q96KQ7-2;Q96KQ7	.;.;.;EHMT2_HUMAN	R	135;135;78;78	ENSP00000379078:G135R;ENSP00000364678:G135R;ENSP00000364680:G78R;ENSP00000364687:G78R	ENSP00000364678:G135R	G	-	1	0	EHMT2	31972458	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	2.065000	0.41442	0.780000	0.33566	0.556000	0.70494	GGG		0.617	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		3	96	0	0	0	1	0	3	96				
CD300E	342510	broad.mit.edu	37	17	72610086	72610086	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:72610086C>T	ENST00000328630.3	-	3	515	c.475G>A	c.(475-477)Gag>Aag	p.E159K	CD300E_ENST00000426295.2_Missense_Mutation_p.E200K|CD300E_ENST00000392619.1_Missense_Mutation_p.E186K			Q496F6	CLM2_HUMAN	CD300e molecule	159					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E200K(1)|p.E159K(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GTCAACACCTCCCCGGTGCTG	0.612																																						ENST00000392619.1																			2	Substitution - Missense(2)	p.E200K(1)|p.E159K(1)	kidney(2)	breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(556-558)Gag>Aag		CD300e molecule							115.0	93.0	100.0					17																	72610086		2203	4300	6503	SO:0001583	missense	342510					integral to membrane|plasma membrane	receptor activity	g.chr17:72610086C>T	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.475G>A	17.37:g.72610086C>T	ENSP00000329942:p.Glu159Lys					CD300E_ENST00000328630.3_Missense_Mutation_p.E159K|CD300E_ENST00000426295.2_Missense_Mutation_p.E200K	p.E186K	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN			3	591	-			159					B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	c.556G>A	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	C	4.278	0.050649	0.08243	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630	T;T;T	0.03496	3.93;3.91;3.95	2.7	0.563	0.17296	.	4.120870	0.00780	U	0.001272	T	0.04497	0.0123	L	0.52573	1.65	0.09310	N	1	B	0.34015	0.435	B	0.29353	0.101	T	0.42682	-0.9437	10	0.20519	T	0.43	0.0632	5.2621	0.15580	0.0:0.7119:0.0:0.2881	.	159	Q496F6	CLM2_HUMAN	K	186;200;159	ENSP00000376395:E186K;ENSP00000416642:E200K;ENSP00000329942:E159K	ENSP00000329942:E159K	E	-	1	0	CD300E	70121681	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.017000	0.13399	0.176000	0.19873	0.411000	0.27672	GAG		0.612	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		19	88	0	0	0	1	0	19	88				
TUBA1C	84790	broad.mit.edu	37	12	49663651	49663651	+	Silent	SNP	T	T	C	rs139840621		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:49663651T>C	ENST00000301072.6	+	3	542	c.267T>C	c.(265-267)ccT>ccC	p.P89P	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000549183.1_Silent_p.P89P|TUBA1C_ENST00000541364.1_Silent_p.P159P	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	89					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						TCTTCCACCCTGAGCAACTCA	0.557																																						ENST00000301072.6																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						c.(265-267)ccT>ccC		tubulin, alpha 1c							127.0	118.0	121.0					12																	49663651		2203	4300	6503	SO:0001819	synonymous_variant	84790				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr12:49663651T>C	BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.267T>C	12.37:g.49663651T>C						TUBA1C_ENST00000541364.1_Silent_p.P159P|TUBA1C_ENST00000549183.1_Silent_p.P89P|RP11-161H23.5_ENST00000550468.2_RNA	p.P89P	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN			3	542	+			89						Silent	SNP	ENST00000301072.6	37	c.267T>C	CCDS8782.1																																																																																				0.557	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404424.1	NM_032704		12	1689	0	0	0	1	0	12	1689				
GPC4	2239	broad.mit.edu	37	X	132440131	132440131	+	Missense_Mutation	SNP	G	G	A	rs367644057		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:132440131G>A	ENST00000370828.3	-	5	1453	c.929C>T	c.(928-930)tCg>tTg	p.S310L	GPC4_ENST00000535467.1_Missense_Mutation_p.S240L	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	310					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ATCCATGACCGATTCAATGTT	0.418																																						ENST00000370828.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28						c.(928-930)tCg>tTg		glypican 4		G	LEU/SER	1,3834		0,1,1631,571	151.0	130.0	137.0		929	5.8	0.9	X		137	0,6728		0,0,2428,1872	no	missense	GPC4	NM_001448.2	145	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	benign	310/557	132440131	1,10562	2203	4300	6503	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132440131G>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.929C>T	X.37:g.132440131G>A	ENSP00000359864:p.Ser310Leu					GPC4_ENST00000535467.1_Missense_Mutation_p.S240L	p.S310L	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN			5	1453	-	Acute lymphoblastic leukemia(192;0.000127)		310					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.929C>T	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	g	31	5.083170	0.94050	2.61E-4	0.0	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.48522	0.81;0.81	5.78	5.78	0.91487	.	0.055519	0.85682	D	0.000000	T	0.46889	0.1416	L	0.39566	1.225	0.80722	D	1	P	0.36633	0.562	B	0.41332	0.354	T	0.34800	-0.9814	10	0.34782	T	0.22	-3.5532	17.8525	0.88751	0.0:0.0:1.0:0.0	.	310	O75487	GPC4_HUMAN	L	310;304;240	ENSP00000359864:S310L;ENSP00000444959:S240L	ENSP00000359864:S310L	S	-	2	0	GPC4	132267797	1.000000	0.71417	0.896000	0.35187	0.986000	0.74619	9.476000	0.97823	2.435000	0.82474	0.597000	0.82753	TCG		0.418	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		4	226	0	0	0	1	0	4	226				
TMEM39A	55254	broad.mit.edu	37	3	119155805	119155805	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:119155805C>T	ENST00000319172.5	-	7	1365	c.945G>A	c.(943-945)atG>atA	p.M315I	TMEM39A_ENST00000486159.1_5'Flank	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	315						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ATGACCAGCGCATGTCATAGT	0.453																																						ENST00000319172.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(943-945)atG>atA		transmembrane protein 39A							189.0	172.0	178.0					3																	119155805		2203	4300	6503	SO:0001583	missense	55254					integral to membrane		g.chr3:119155805C>T	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.945G>A	3.37:g.119155805C>T	ENSP00000326063:p.Met315Ile						p.M315I	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	7	1365	-			315					D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.945G>A	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751875	0.31046	.	.	ENSG00000176142	ENST00000319172;ENST00000491685	T	0.42513	0.97	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	N	0.24115	0.695	0.80722	D	1	D	0.53312	0.959	P	0.51516	0.672	T	0.07385	-1.0775	10	0.21540	T	0.41	-14.4816	17.8168	0.88637	0.0:1.0:0.0:0.0	.	315	Q9NV64	TM39A_HUMAN	I	315;161	ENSP00000326063:M315I	ENSP00000326063:M315I	M	-	3	0	TMEM39A	120638495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.620000	0.67736	2.692000	0.91855	0.650000	0.86243	ATG		0.453	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		7	640	0	0	0	1	0	7	640				
NEB	4703	broad.mit.edu	37	2	152418678	152418678	+	Silent	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:152418678A>T	ENST00000172853.10	-	93	13986	c.13839T>A	c.(13837-13839)gtT>gtA	p.V4613V	NEB_ENST00000409198.1_Silent_p.V4613V|NEB_ENST00000397345.3_Silent_p.V6314V|NEB_ENST00000603639.1_Silent_p.V6314V|NEB_ENST00000604864.1_Silent_p.V6314V|NEB_ENST00000427231.2_Silent_p.V6314V			P20929	NEBU_HUMAN	nebulin	4613					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGTATCCCAAACGTAGCAAC	0.428																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(18940-18942)gtT>gtA		nebulin							254.0	238.0	243.0					2																	152418678		1925	4122	6047	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152418678A>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13839T>A	2.37:g.152418678A>T						NEB_ENST00000172853.10_Silent_p.V4613V|NEB_ENST00000427231.2_Silent_p.V6314V|NEB_ENST00000603639.1_Silent_p.V6314V|NEB_ENST00000409198.1_Silent_p.V4613V|NEB_ENST00000604864.1_Silent_p.V6314V	p.V6314V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	121	19144	-			6319					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.18942T>A																																																																																					0.428	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		8	583	0	0	0	1	0	8	583				
SATB1	6304	broad.mit.edu	37	3	18390735	18390735	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:18390735A>T	ENST00000338745.6	-	11	3953	c.2219T>A	c.(2218-2220)cTt>cAt	p.L740H	SATB1_ENST00000454909.2_Missense_Mutation_p.L740H|SATB1_ENST00000417717.2_Missense_Mutation_p.L772H|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	740					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CACTGAAAAAAGGGTGTTAGT	0.378																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(2218-2220)cTt>cAt		SATB homeobox 1							130.0	138.0	136.0					3																	18390735		2203	4300	6503	SO:0001583	missense	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18390735A>T		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.2219T>A	3.37:g.18390735A>T	ENSP00000341024:p.Leu740His					SATB1_ENST00000454909.2_Missense_Mutation_p.L740H|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.L772H	p.L740H	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			11	3953	-			740					B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	c.2219T>A	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	A	10.35	1.325176	0.24080	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.55760	0.54;0.54;0.5	5.61	5.61	0.85477	.	0.138572	0.48286	D	0.000191	T	0.51500	0.1678	N	0.14661	0.345	0.80722	D	1	D;D	0.67145	0.996;0.958	P;P	0.56216	0.794;0.608	T	0.59878	-0.7371	10	0.87932	D	0	-0.0219	15.8076	0.78527	1.0:0.0:0.0:0.0	.	772;740	Q01826-2;Q01826	.;SATB1_HUMAN	H	740;740;772	ENSP00000341024:L740H;ENSP00000399708:L740H;ENSP00000399518:L772H	ENSP00000341024:L740H	L	-	2	0	SATB1	18365739	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	6.555000	0.73928	2.147000	0.66899	0.533000	0.62120	CTT		0.378	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		4	99	0	0	0	1	0	4	99				
TSPAN33	340348	broad.mit.edu	37	7	128806690	128806690	+	Silent	SNP	C	C	T	rs199681216		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:128806690C>T	ENST00000289407.4	+	6	640	c.531C>T	c.(529-531)aaC>aaT	p.N177N	Y_RNA_ENST00000363759.1_RNA|RP11-286H14.6_ENST00000498745.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	177					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CAGAAGACAACCCCAGTCGAG	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		21019	0.0		0.001	False		,,,				2504	0.0					ENST00000289407.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(529-531)aaC>aaT		tetraspanin 33		C		0,4406		0,0,2203	288.0	257.0	267.0		531	3.9	1.0	7		267	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TSPAN33	NM_178562.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		177/284	128806690	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	340348					integral to membrane		g.chr7:128806690C>T		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.531C>T	7.37:g.128806690C>T							p.N177N	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN			6	640	+			177						Silent	SNP	ENST00000289407.4	37	c.531C>T	CCDS5810.1																																																																																				0.522	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		11	1208	0	0	0	1	0	11	1208				
PRUNE2	158471	broad.mit.edu	37	9	79321257	79321257	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:79321257T>C	ENST00000376718.3	-	8	6056	c.5933A>G	c.(5932-5934)gAg>gGg	p.E1978G	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E1619G	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1978					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACTATTTTCCTCTGCGTGAGT	0.438																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(4855-4857)gAg>gGg		prune homolog 2 (Drosophila)							136.0	118.0	123.0					9																	79321257		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79321257T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5933A>G	9.37:g.79321257T>C	ENSP00000365908:p.Glu1978Gly					PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1978G	p.E1619G			Q8WUY3	PRUN2_HUMAN			8	6056	-			1978					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.4856A>G	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	0.968	-0.701127	0.03255	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.45668	0.89;0.89	5.82	2.08	0.27032	.	0.923832	0.09146	N	0.842321	T	0.28599	0.0708	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25293	-1.0136	10	0.25106	T	0.35	-1.3021	9.6782	0.40054	0.0:0.2923:0.0:0.7077	.	1978	Q8WUY3	PRUN2_HUMAN	G	1978;1619;1977	ENSP00000365908:E1978G;ENSP00000397425:E1619G	ENSP00000365908:E1978G	E	-	2	0	PRUNE2	78511077	0.005000	0.15991	0.051000	0.19133	0.001000	0.01503	0.261000	0.18442	0.124000	0.18369	-0.366000	0.07423	GAG		0.438	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		5	337	0	0	0	1	0	5	337				
ZADH2	284273	broad.mit.edu	37	18	72914297	72914297	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:72914297T>A	ENST00000322342.3	-	2	499		c.e2-2		ZADH2_ENST00000537114.2_Splice_Site	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2							mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CCAACAAATCTAAAAGAAAAC	0.428																																						ENST00000322342.3																			0				endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15						c.e2-2		zinc binding alcohol dehydrogenase domain containing 2							47.0	46.0	46.0					18																	72914297		2203	4300	6503	SO:0001630	splice_region_variant	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72914297T>A	BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.210-2A>T	18.37:g.72914297T>A						ZADH2_ENST00000537114.2_Splice_Site		NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	499	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)						A8KA15|B4DZ91	Splice_Site	SNP	ENST00000322342.3	37		CCDS12008.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.533999	0.64972	.	.	ENSG00000180011	ENST00000322342	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0442	0.64695	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZADH2	71043285	1.000000	0.71417	0.975000	0.42487	0.877000	0.50540	7.817000	0.86213	0.893000	0.36288	0.529000	0.55759	.		0.428	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907	Intron	8	289	0	0	0	1	0	8	289				
KIF1B	23095	broad.mit.edu	37	1	10356638	10356638	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:10356638A>T	ENST00000377086.1	+	20	1979		c.e20-1		KIF1B_ENST00000263934.6_Splice_Site|KIF1B_ENST00000377083.1_Splice_Site|KIF1B_ENST00000377093.4_Splice_Site|KIF1B_ENST00000377081.1_Splice_Site|RNU6-37P_ENST00000362692.1_RNA			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGTTCCTCTTAGTTATCGTGA	0.433																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.e20-1		kinesin family member 1B							87.0	81.0	83.0					1																	10356638		2203	4300	6503	SO:0001630	splice_region_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10356638A>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.1778-1A>T	1.37:g.10356638A>T						KIF1B_ENST00000377083.1_Splice_Site|KIF1B_ENST00000377093.4_Splice_Site|KIF1B_ENST00000263934.6_Splice_Site|KIF1B_ENST00000377081.1_Splice_Site				O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	20	1979	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)						A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Splice_Site	SNP	ENST00000377086.1	37			.	.	.	.	.	.	.	.	.	.	A	25.2	4.616718	0.87359	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1699	0.81801	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF1B	10279225	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.273000	0.72581	2.217000	0.71921	0.533000	0.62120	.		0.433	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		Intron	5	127	0	0	0	1	0	5	127				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			55073							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		2	5	0	0	0	1	0	2	5				
VWC2L	402117	broad.mit.edu	37	2	215440508	215440508	+	Missense_Mutation	SNP	T	T	G	rs570945640		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:215440508T>G	ENST00000312504.5	+	4	1435	c.633T>G	c.(631-633)tgT>tgG	p.C211W	VWC2L_ENST00000427124.1_3'UTR|AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	211					negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						CTGCTCAGTGTTCGAAACGTG	0.473																																						ENST00000312504.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						c.(631-633)tgT>tgG		von Willebrand factor C domain containing protein 2-like							226.0	222.0	223.0					2																	215440508		2036	4193	6229	SO:0001583	missense	402117					extracellular region		g.chr2:215440508T>G	AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"""von Willebrand factor C domain-containing protein 2-like"""				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.633T>G	2.37:g.215440508T>G	ENSP00000308976:p.Cys211Trp					AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_3'UTR|AC107218.3_ENST00000437883.1_RNA	p.C211W	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN			4	1435	+			211					A6NC69|B2RUW7|B7X8X1	Missense_Mutation	SNP	ENST00000312504.5	37	c.633T>G	CCDS46509.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983207	0.53827	.	.	ENSG00000174453	ENST00000312504	T	0.50548	0.74	5.58	0.707	0.18139	.	.	.	.	.	T	0.54078	0.1836	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52358	-0.8586	9	0.87932	D	0	-1.4694	9.6199	0.39714	0.0:0.3716:0.0:0.6284	.	211	B2RUY7	VWC2L_HUMAN	W	211	ENSP00000308976:C211W	ENSP00000308976:C211W	C	+	3	2	VWC2L	215148753	0.998000	0.40836	0.999000	0.59377	0.993000	0.82548	0.490000	0.22403	0.099000	0.17552	-0.250000	0.11733	TGT		0.473	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500		13	2035	0	0	0	1	0	13	2035				
RAP1GAP	5909	broad.mit.edu	37	1	21936093	21936094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:21936093_21936094insG	ENST00000374765.4	-	15	1245_1246	c.1045_1046insC	c.(1045-1047)ctcfs	p.L349fs	RAP1GAP_ENST00000542643.2_Frame_Shift_Ins_p.L349fs|RAP1GAP_ENST00000374761.2_Frame_Shift_Ins_p.L380fs|RAP1GAP_ENST00000290101.4_Frame_Shift_Ins_p.L413fs|RAP1GAP_ENST00000374763.2_Frame_Shift_Ins_p.L349fs	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	349	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGGGTCCGGGAGGGGGGGTCCA	0.634																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(1045-1047)cccfs		RAP1 GTPase activating protein																																				SO:0001589	frameshift_variant	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21936093_21936094insG	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1046dupC	1.37:g.21936100_21936100dupG	ENSP00000363897:p.Leu349fs					RAP1GAP_ENST00000374761.2_Frame_Shift_Ins_p.P380fs|RAP1GAP_ENST00000374763.2_Frame_Shift_Ins_p.P349fs|RAP1GAP_ENST00000374765.4_Frame_Shift_Ins_p.P349fs|RAP1GAP_ENST00000290101.4_Frame_Shift_Ins_p.P413fs	p.P349fs	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	16	1347_1348	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	349			Rap-GAP.		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Frame_Shift_Ins	INS	ENST00000374765.4	37	c.1045_1046insC	CCDS218.1																																																																																				0.634	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		15	1343						15	1343	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5542-5544)gggfs	p.G1848fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.G176fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1465fs|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_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs	p.GG1847fs	NM_006015.4	NP_006006.3	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		7	369						7	369	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs					PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	p.P344fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1291_1292	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Ins	INS	ENST00000373839.3	37	c.1030_1031insC	CCDS41293.1																																																																																				0.515	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		13	462						13	462	---	---	---	---
KHDRBS1	10657	broad.mit.edu	37	1	32503458	32503459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:32503458_32503459insG	ENST00000327300.7	+	6	1095_1096	c.928_929insG	c.(928-930)cggfs	p.R310fs	KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.R271fs|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGACCACCTCGGGGGGCTTTG	0.5																																					Ovarian(173;401 1982 12359 31110 42403)	ENST00000327300.7																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(928-930)gggfs		KH domain containing, RNA binding, signal transduction associated 1																																				SO:0001589	frameshift_variant	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32503458_32503459insG	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.934dupG	1.37:g.32503464_32503464dupG	ENSP00000313829:p.Arg310fs					KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs	p.G310fs	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN			6	1095_1096	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	310			Arg/Gly-rich.			Frame_Shift_Ins	INS	ENST00000327300.7	37	c.928_929insG	CCDS350.1																																																																																				0.500	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		10	596						10	596	---	---	---	---
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:32673442_32673443insG	ENST00000291358.6	+	5	1181_1182	c.1160_1161insG	c.(1159-1164)ttggggfs	p.LG387fs	DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000537469.1_Frame_Shift_Ins_p.LG467fs	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.55																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(1399-1401)tggfs		IQ motif containing C																																				SO:0001589	frameshift_variant	55721							g.chr1:32673442_32673443insG	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1167dupG	1.37:g.32673449_32673449dupG	ENSP00000291358:p.Leu387fs					IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	p.W467fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN			5	1447_1448	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	387					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Frame_Shift_Ins	INS	ENST00000291358.6	37	c.1400_1401insG	CCDS355.1																																																																																				0.550	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		10	79						10	79	---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:33233494_33233495insC	ENST00000373480.1	+	2	268_269	c.165_166insC	c.(166-168)cccfs	p.P56fs	KIAA1522_ENST00000401073.2_Frame_Shift_Ins_p.P115fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.P56fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.P67fs	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			7	135						7	135	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34180227	34180228	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:34180227_34180228insC	ENST00000373381.4	-	21	3541_3542	c.3365_3366insG	c.(3364-3366)ggcfs	p.G1122fs		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1082	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCGCCGTCTGCCCCCCAGGCA	0.599																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(3364-3366)gagfs		CUB and Sushi multiple domains 2																																				SO:0001589	frameshift_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34180227_34180228insC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3366dupG	1.37:g.34180233_34180233dupC	ENSP00000362479:p.Gly1122fs						p.E1122fs	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			21	3541_3542	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1082			CUB 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Frame_Shift_Ins	INS	ENST00000373381.4	37	c.3365_3366insG																																																																																					0.599	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		10	751						10	751	---	---	---	---
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:36935322_36935323insG	ENST00000373106.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)cccagcfs	p.S469fs	CSF3R_ENST00000373103.1_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_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_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs	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	233						11	233	---	---	---	---
ST3GAL3	6487	broad.mit.edu	37	1	44386217	44386218	+	Frame_Shift_Ins	INS	-	-	G	rs137939894|rs554609799		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:44386217_44386218insG	ENST00000361392.4	+	10	1063_1064	c.886_887insG	c.(886-888)cggfs	p.R296fs	ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000361746.4_Frame_Shift_Ins_p.R365fs|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372375.2_Frame_Shift_Ins_p.R350fs|ST3GAL3_ENST00000372374.2_Frame_Shift_Ins_p.R265fs|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000361400.4_Frame_Shift_Ins_p.R280fs|ST3GAL3_ENST00000347631.2_Frame_Shift_Ins_p.R311fs|ST3GAL3_ENST00000372369.1_Frame_Shift_Ins_p.R266fs|ST3GAL3_ENST00000372368.2_Frame_Shift_Ins_p.R350fs|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000332628.6_Frame_Shift_Ins_p.R265fs|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000335430.6_Frame_Shift_Ins_p.G218fs|ST3GAL3_ENST00000351035.3_Frame_Shift_Ins_p.R334fs|ST3GAL3_ENST00000372372.2_Frame_Shift_Ins_p.R334fs|ST3GAL3_ENST00000262915.3_Frame_Shift_Ins_p.R365fs|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000372365.1_Intron	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	296					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)	p.R365Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCTCATGGGCCGGGGGGTGAGA	0.604																																						ENST00000262915.3																			1	Substitution - Missense(1)	p.R365Q(1)	endometrium(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19						c.(1093-1095)gggfs		ST3 beta-galactoside alpha-2,3-sialyltransferase 3																																				SO:0001589	frameshift_variant	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44386217_44386218insG	L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.891dupG	1.37:g.44386223_44386223dupG	ENSP00000355341:p.Arg296fs					ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000347631.2_Frame_Shift_Ins_p.G311fs|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000351035.3_Frame_Shift_Ins_p.G334fs|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000372375.2_Frame_Shift_Ins_p.G350fs|ST3GAL3_ENST00000372372.2_Frame_Shift_Ins_p.G334fs|ST3GAL3_ENST00000361746.4_Frame_Shift_Ins_p.G365fs|ST3GAL3_ENST00000335430.6_Frame_Shift_Ins_p.AG217fs|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372368.2_Frame_Shift_Ins_p.G350fs|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000332628.6_Frame_Shift_Ins_p.G265fs|ST3GAL3_ENST00000372369.1_Frame_Shift_Ins_p.G266fs|ST3GAL3_ENST00000372374.2_Frame_Shift_Ins_p.G265fs|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000361392.4_Frame_Shift_Ins_p.G296fs|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000361400.4_Frame_Shift_Ins_p.G280fs	p.G365fs	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN			11	1270_1271	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	296					A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Frame_Shift_Ins	INS	ENST00000361392.4	37	c.1093_1094insG	CCDS492.1																																																																																				0.604	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		7	167						7	167	---	---	---	---
PIK3R3	8503	broad.mit.edu	37	1	46546323	46546324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:46546323_46546324insC	ENST00000262741.5	-	2	894_895	c.205_206insG	c.(205-207)gatfs	p.D69fs	PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.D69fs|PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.D69fs|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.D69fs|PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.D115fs|PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.D69fs|PIK3R3_ENST00000340332.6_Intron	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	69	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	CCTTGAAATATCCCCCCAGTAC	0.381																																						ENST00000262741.5																			0				endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14						c.(205-207)tatfs		phosphoinositide-3-kinase, regulatory subunit 3 (gamma)																																				SO:0001589	frameshift_variant	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46546323_46546324insC	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.206dupG	1.37:g.46546329_46546329dupC	ENSP00000262741:p.Asp69fs					PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.Y115fs	p.Y69fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN			2	894_895	-	Acute lymphoblastic leukemia(166;0.155)		69			SH2 1.		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Frame_Shift_Ins	INS	ENST00000262741.5	37	c.205_206insG	CCDS529.1																																																																																				0.381	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		7	943						7	943	---	---	---	---
LRP8	7804	broad.mit.edu	37	1	53728210	53728211	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:53728210_53728211insC	ENST00000306052.6	-	11	1782_1783	c.1681_1682insG	c.(1681-1683)gacfs	p.D561fs	LRP8_ENST00000460214.1_5'Flank|LRP8_ENST00000347547.2_Frame_Shift_Ins_p.D391fs|LRP8_ENST00000465675.1_Frame_Shift_Ins_p.D114fs|LRP8_ENST00000354412.3_Frame_Shift_Ins_p.D432fs|LRP8_ENST00000371454.2_Frame_Shift_Ins_p.D561fs	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	561					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CTTGGCCTGGTCCCCCCAGTCA	0.515																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1681-1683)ccafs		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor																																				SO:0001589	frameshift_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53728210_53728211insC	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1682dupG	1.37:g.53728216_53728216dupC	ENSP00000303634:p.Asp561fs					LRP8_ENST00000465675.1_Frame_Shift_Ins_p.P114fs|LRP8_ENST00000354412.3_Frame_Shift_Ins_p.P432fs|LRP8_ENST00000347547.2_Frame_Shift_Ins_p.P391fs|LRP8_ENST00000371454.2_Frame_Shift_Ins_p.P561fs	p.P561fs	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			11	1782_1783	-			561					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Frame_Shift_Ins	INS	ENST00000306052.6	37	c.1681_1682insG	CCDS578.1																																																																																				0.515	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		7	1150						7	1150	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)cccactfs	p.T118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.T118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594																																						ENST00000302250.2																			1	Deletion - Frameshift(1)	p.T118fs*43(1)	ovary(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(349-354)ccctatfs		family with sequence similarity 151, member A			,	13,4253		0,13,2120					,	3.2	0.2			92	8,8246		0,8,4119	no	frameshift,intron	ACOT11,FAM151A	NM_176782.2,NM_015547.3	,	0,21,6239	A1A1,A1R,RR		0.0969,0.3047,0.1677	,	,		21,12499				SO:0001589	frameshift_variant	338094					integral to membrane		g.chr1:55081756_55081757insG	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.352dupC	1.37:g.55081763_55081763dupG	ENSP00000306888:p.Thr118fs					FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	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		36	671						36	671	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779|rs183693555	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:59812016_59812017insG	ENST00000303721.7	+	4	585_586	c.411_412insG	c.(412-414)gggfs	p.G138fs	FGGY_ENST00000371218.4_Frame_Shift_Ins_p.G138fs|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	138					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.5																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(409-414)gtggggfs		FGGY carbohydrate kinase domain containing																																				SO:0001589	frameshift_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59812016_59812017insG		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.418dupG	1.37:g.59812023_59812023dupG	ENSP00000305922:p.Gly138fs					FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000474476.1_3'UTR	p.VG137fs	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			4	595_596	+	all_cancers(7;7.36e-05)		137					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Frame_Shift_Ins	INS	ENST00000303721.7	37	c.411_412insG	CCDS611.2																																																																																				0.500	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		10	194						10	194	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62253579	62253580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:62253579_62253580insC	ENST00000371158.2	+	8	1117_1118	c.1003_1004insC	c.(1003-1005)accfs	p.T335fs	INADL_ENST00000316485.6_Frame_Shift_Ins_p.T335fs	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	335					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CATTTCAGTCACCCCCCCTGCC	0.505																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(1003-1005)cccfs		InaD-like (Drosophila)																																				SO:0001589	frameshift_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62253579_62253580insC	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1010dupC	1.37:g.62253586_62253586dupC	ENSP00000360200:p.Thr335fs					INADL_ENST00000316485.6_Frame_Shift_Ins_p.P335fs	p.P335fs	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			8	1117_1118	+			335					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Frame_Shift_Ins	INS	ENST00000371158.2	37	c.1003_1004insC	CCDS617.2																																																																																				0.505	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		13	279						13	279	---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G	rs368823178		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)ccgfs	p.P430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGACGATCAACGGGGGGGCCAC	0.54			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1288-1290)cttfs		Janus kinase 1																																				SO:0001589	frameshift_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65325832_65325833insG	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1290dupC	1.37:g.65325839_65325839dupG	ENSP00000343204:p.Pro430fs						p.L430fs	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	9	1537_1538	-			430					Q59GQ2|Q9UD26	Frame_Shift_Ins	INS	ENST00000342505.4	37	c.1289_1290insC	CCDS41346.1																																																																																				0.540	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		14	361						14	361	---	---	---	---
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555|rs185821757		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		9	189						9	189	---	---	---	---
LRRC8C	84230	broad.mit.edu	37	1	90179646	90179647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:90179646_90179647insC	ENST00000370454.4	+	3	1772_1773	c.1517_1518insC	c.(1516-1521)ctccccfs	p.LP506fs	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	506					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATGAGGGAACTCCCCCCCTGGA	0.5																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(1516-1518)cccfs		leucine rich repeat containing 8 family, member C																																				SO:0001589	frameshift_variant	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179646_90179647insC		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1524dupC	1.37:g.90179653_90179653dupC	ENSP00000359483:p.Leu506fs					LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	p.P506fs	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	1772_1773	+		all_lung(203;0.126)	506					B3KXS9|Q29RV6|Q9H075	Frame_Shift_Ins	INS	ENST00000370454.4	37	c.1517_1518insC	CCDS725.1																																																																																				0.500	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		12	162						12	162	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		17	331						17	331	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C	rs552970171		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)gccfs	p.A352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1054-1056)catfs		oviductal glycoprotein 1, 120kDa																																				SO:0001589	frameshift_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111959046_111959047insC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1055dupG	1.37:g.111959053_111959053dupC	ENSP00000358747:p.Ala352fs					OVGP1_ENST00000540696.1_3'UTR	p.H352fs	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	10	1109_1110	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	352					A0AV19|B9EGE1|Q15841	Frame_Shift_Ins	INS	ENST00000369732.3	37	c.1054_1055insG	CCDS834.1																																																																																				0.505	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		35	434						35	434	---	---	---	---
MAGI3	260425	broad.mit.edu	37	1	114216006	114216007	+	Frame_Shift_Ins	INS	-	-	G	rs201961376		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:114216006_114216007insG	ENST00000307546.9	+	19	3183_3184	c.3108_3109insG	c.(3109-3111)gggfs	p.G1037fs	MAGI3_ENST00000369617.4_Frame_Shift_Ins_p.G1062fs|MAGI3_ENST00000369611.4_Frame_Shift_Ins_p.G1037fs|MAGI3_ENST00000369615.1_Frame_Shift_Ins_p.G1037fs	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1062					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGCCTCCGAGGGGGGAAGGA	0.49																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3106-3111)cgggggfs		membrane associated guanylate kinase, WW and PDZ domain containing 3																																				SO:0001589	frameshift_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114216006_114216007insG	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3114dupG	1.37:g.114216012_114216012dupG	ENSP00000304604:p.Gly1037fs					MAGI3_ENST00000369611.4_Frame_Shift_Ins_p.RG1036fs|MAGI3_ENST00000369617.4_Frame_Shift_Ins_p.RG1061fs|MAGI3_ENST00000307546.9_Frame_Shift_Ins_p.RG1036fs	p.RG1036fs	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	3170_3171	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1061					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Frame_Shift_Ins	INS	ENST00000307546.9	37	c.3108_3109insG	CCDS44196.1																																																																																				0.490	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		8	535						8	535	---	---	---	---
NBPF10	100132406	broad.mit.edu	37	1	145297684	145297685	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:145297684_145297685insC	ENST00000342960.5	+	4	594_595	c.559_560insC	c.(559-561)gccfs	p.A187fs	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	187	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGAATCATCTGCCCCCAGGTAA	0.436																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(559-561)cccfs		neuroblastoma breakpoint family, member 10																																				SO:0001589	frameshift_variant	100132406							g.chr1:145297684_145297685insC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.564dupC	1.37:g.145297689_145297689dupC	ENSP00000345684:p.Ala187fs					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	p.P187fs	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	4	594_595	+	all_hematologic(923;0.032)		187					Q5RHC0|Q9NWN6	Frame_Shift_Ins	INS	ENST00000342960.5	37	c.559_560insC	CCDS53355.1																																																																																				0.436	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		9	1884						9	1884	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1627-1629)cccfs	p.P543fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.P412fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.P400fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	543					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1624-1629)gaccccfs		integrin, alpha 10																																				SO:0001589	frameshift_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534121_145534122insC	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1633dupC	1.37:g.145534128_145534128dupC	ENSP00000358310:p.Pro543fs					ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs	p.DP542fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			14	1801_1802	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		542					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Frame_Shift_Ins	INS	ENST00000369304.3	37	c.1626_1627insC	CCDS918.1																																																																																				0.554	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		36	1025						36	1025	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1257)tgccccfs	p.CP418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.CP383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.5																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1252-1254)tccfs		protein inhibitor of activated STAT, 3																																				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584022_145584023insC	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1259dupC	1.37:g.145584028_145584028dupC	ENSP00000376765:p.Cys418fs					PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	p.S418fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			10	1343_1344	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		418					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1253_1254insC	CCDS920.2																																																																																				0.500	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		21	1116						21	1116	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145584150	145584151	+	Frame_Shift_Ins	INS	-	-	G	rs34574009		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:145584150_145584151insG	ENST00000393045.2	+	11	1391_1392	c.1301_1302insG	c.(1300-1305)caggggfs	p.QG434fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.QG399fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	434					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCCCAGTCCAGGGGGGAGATC	0.495																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1300-1302)cggfs		protein inhibitor of activated STAT, 3																																				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584150_145584151insG	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1307dupG	1.37:g.145584156_145584156dupG	ENSP00000376765:p.Gln434fs					PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.R399fs	p.R434fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			11	1391_1392	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		434					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1301_1302insG	CCDS920.2																																																																																				0.495	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		8	675						8	675	---	---	---	---
SF3B4	10262	broad.mit.edu	37	1	149895561	149895562	+	Frame_Shift_Ins	INS	-	-	G	rs387907187|rs387907186		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:149895561_149895562insG	ENST00000271628.8	-	6	1731_1732	c.1147_1148insC	c.(1147-1149)catfs	p.H383fs		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	383					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.H383fs*>43(1)|p.H383fs*>42(1)		endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGTGTATCCATGGGGGGGCATC	0.624																																						ENST00000271628.8																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.H383fs*>43(1)|p.H383fs*>42(1)	large_intestine(2)	endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						c.(1147-1149)tggfs		splicing factor 3b, subunit 4, 49kDa				12,4250		0,12,2119						4.5	1.0			21	13,8231		0,13,4109	no	frameshift	SF3B4	NM_005850.4		0,25,6228	A1A1,A1R,RR		0.1577,0.2816,0.1999				25,12481				SO:0001589	frameshift_variant	10262					nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr1:149895561_149895562insG	L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"""RNA binding motif (RRM) containing"""	10771	protein-coding gene	gene with protein product		605593	"""splicing factor 3b, subunit 4, 49kD"""			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.1148dupC	1.37:g.149895568_149895568dupG	ENSP00000271628:p.His383fs						p.W383fs	NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		6	1731_1732	-	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		383					Q5SZ63	Frame_Shift_Ins	INS	ENST00000271628.8	37	c.1147_1148insC	CCDS941.1																																																																																				0.624	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033753.1	NM_005850		11	111						11	111	---	---	---	---
TARS2	80222	broad.mit.edu	37	1	150471073	150471074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:150471073_150471074insG	ENST00000369064.3	+	11	1368_1369	c.1334_1335insG	c.(1333-1338)ctggggfs	p.LG445fs	TARS2_ENST00000369054.2_Frame_Shift_Ins_p.LG315fs|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Frame_Shift_Ins_p.LG363fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	445					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TCTGGTGGTCTGGGGGGACTGA	0.609																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1333-1335)cggfs		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)																																			SO:0001589	frameshift_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150471073_150471074insG	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1340dupG	1.37:g.150471079_150471079dupG	ENSP00000358060:p.Leu445fs					TARS2_ENST00000606933.1_Frame_Shift_Ins_p.R363fs|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.R315fs	p.R445fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		11	1368_1369	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		445					Q53GW7|Q96I50|Q9H9V2	Frame_Shift_Ins	INS	ENST00000369064.3	37	c.1334_1335insG	CCDS952.1																																																																																				0.609	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		14	954						14	954	---	---	---	---
SETDB1	9869	broad.mit.edu	37	1	150917623	150917624	+	Intron	INS	-	-	G	rs587715611|rs587751384|rs186820437	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:150917623_150917624insG	ENST00000271640.5	+	9	1330				SETDB1_ENST00000368969.4_Intron|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368962.2_Frame_Shift_Ins_p.G394fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGAGGTTGGTGGGGGGGGAAC	0.475																																						ENST00000368962.2																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1177-1182)ggggggfs		SET domain, bifurcated 1			,	53,4213		1,51,2081					,	-6.3	0.0			32	26,8228		0,26,4101	no	intron,intron	SETDB1	NM_012432.3,NM_001145415.1	,	1,77,6182	A1A1,A1R,RR		0.315,1.2424,0.631	,	,		79,12441				SO:0001627	intron_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150917623_150917624insG	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1140+39->G	1.37:g.150917631_150917631dupG						SETDB1_ENST00000368969.4_Intron|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000271640.5_Intron	p.GG393fs	NM_001243491.1	NP_001230420.1	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		9	1305_1306	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		0			Tudor 2.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Frame_Shift_Ins	INS	ENST00000271640.5	37	c.1179_1180insG	CCDS44217.1																																																																																				0.475	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			21	202						21	202	---	---	---	---
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G	rs548049340		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)ccafs	p.P19fs	RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.P19fs|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.P19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.P19fs	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_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR|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		24	720						24	720	---	---	---	---
PGLYRP4	57115	broad.mit.edu	37	1	153317810	153317811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:153317810_153317811insC	ENST00000359650.5	-	4	251_252	c.187_188insG	c.(187-189)gcafs	p.A63fs	PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000368739.3_Frame_Shift_Ins_p.A59fs	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	63					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACAGCTTCTGCCCCCCATGCC	0.589																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(175-177)agafs		peptidoglycan recognition protein 4																																				SO:0001589	frameshift_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153317810_153317811insC	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.188dupG	1.37:g.153317816_153317816dupC	ENSP00000352672:p.Ala63fs					PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs|PGLYRP4_ENST00000490266.1_5'UTR	p.R59fs			Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	533_534	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		63					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Frame_Shift_Ins	INS	ENST00000359650.5	37	c.175_176insG	CCDS30871.1																																																																																				0.589	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		12	1388						12	1388	---	---	---	---
DENND4B	9909	broad.mit.edu	37	1	153916546	153916547	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:153916546_153916547insG	ENST00000361217.4	-	2	722_723	c.304_305insC	c.(304-306)ctcfs	p.L102fs		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	102	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCTCAACGAGGGGGGGCTTG	0.634																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(304-306)cgtfs		DENN/MADD domain containing 4B																																				SO:0001589	frameshift_variant	9909							g.chr1:153916546_153916547insG	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.305dupC	1.37:g.153916553_153916553dupG	ENSP00000354597:p.Leu102fs						p.R102fs	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	722_723	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		102			MABP.		Q5T4K0	Frame_Shift_Ins	INS	ENST00000361217.4	37	c.304_305insC	CCDS44228.1																																																																																				0.634	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		7	175						7	175	---	---	---	---
SLC39A1	27173	broad.mit.edu	37	1	153934780	153934781	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:153934780_153934781insC	ENST00000368623.3	-	2	992_993	c.233_234insG	c.(232-234)ggcfs	p.G78fs	SLC39A1_ENST00000461071.1_5'Flank|SLC39A1_ENST00000537590.1_Intron|SLC39A1_ENST00000368621.1_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000356205.4_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000310483.6_Frame_Shift_Ins_p.G78fs			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	78					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CCAAAAAGACGCCCCCCGCGAA	0.614																																						ENST00000368623.3																			0				kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(232-234)ggtfs		solute carrier family 39 (zinc transporter), member 1																																				SO:0001589	frameshift_variant	27173					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity	g.chr1:153934780_153934781insC	BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"""Solute carriers"""	12876	protein-coding gene	gene with protein product		604740	"""zinc/iron regulated transporter-like"""	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.234dupG	1.37:g.153934786_153934786dupC	ENSP00000357612:p.Gly78fs					SLC39A1_ENST00000368621.1_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000310483.6_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000356205.4_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000537590.1_Intron	p.G78fs			Q9NY26	S39A1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)	2	992_993	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		78					B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Frame_Shift_Ins	INS	ENST00000368623.3	37	c.233_234insG	CCDS1055.1																																																																																				0.614	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1	NM_014437		12	197						12	197	---	---	---	---
IL6R	3570	broad.mit.edu	37	1	154401729	154401730	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:154401729_154401730insG	ENST00000368485.3	+	2	580_581	c.143_144insG	c.(142-147)ccggggfs	p.PG48fs	IL6R_ENST00000344086.4_Frame_Shift_Ins_p.PG48fs	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	48	Ig-like C2-type.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)	p.P48P(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CTGACCTGCCCGGGGGTAGAGC	0.639																																						ENST00000368485.3																		IL6R/ATP8B2(2)	1	Substitution - coding silent(1)	p.P48P(1)	large_intestine(1)	breast(2)|large_intestine(1)|ovary(3)	6						c.(142-144)cggfs		interleukin 6 receptor																																				SO:0001589	frameshift_variant	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154401729_154401730insG	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.148dupG	1.37:g.154401734_154401734dupG	ENSP00000357470:p.Pro48fs					IL6R_ENST00000344086.4_Frame_Shift_Ins_p.R48fs	p.R48fs	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	580_581	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		48			Ig-like C2-type.		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Frame_Shift_Ins	INS	ENST00000368485.3	37	c.143_144insG	CCDS1067.1																																																																																				0.639	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		7	507						7	507	---	---	---	---
RUSC1	23623	broad.mit.edu	37	1	155297993	155297994	+	Frame_Shift_Ins	INS	-	-	G	rs149617084		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:155297993_155297994insG	ENST00000368352.5	+	9	2618_2619	c.2467_2468insG	c.(2467-2469)cggfs	p.R823fs	RUSC1_ENST00000368354.3_Frame_Shift_Ins_p.R717fs|RUSC1_ENST00000368347.4_Frame_Shift_Ins_p.R413fs|RUSC1_ENST00000292254.4_Frame_Shift_Ins_p.R354fs|RUSC1_ENST00000368349.4_Frame_Shift_Ins_p.R354fs|RUSC1_ENST00000462780.1_3'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	823					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TCTTGTGAAGCGGGGGGCACCT	0.564																																						ENST00000368352.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(2467-2469)gggfs		RUN and SH3 domain containing 1																																				SO:0001589	frameshift_variant	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155297993_155297994insG	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2473dupG	1.37:g.155297999_155297999dupG	ENSP00000357336:p.Arg823fs					RUSC1_ENST00000368347.4_Frame_Shift_Ins_p.G413fs|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Frame_Shift_Ins_p.G354fs|RUSC1_ENST00000368354.3_Frame_Shift_Ins_p.G717fs|RUSC1_ENST00000368349.4_Frame_Shift_Ins_p.G354fs	p.G823fs	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		9	2618_2619	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		823					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Frame_Shift_Ins	INS	ENST00000368352.5	37	c.2467_2468insG	CCDS41410.1																																																																																				0.564	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			9	484						9	484	---	---	---	---
ISG20L2	81875	broad.mit.edu	37	1	156694022	156694023	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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_ENST00000472824.1_5'UTR|ISG20L2_ENST00000368219.1_Frame_Shift_Ins_p.Q289fs	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		15	166						15	166	---	---	---	---
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)catfs	p.H18fs	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.H18fs			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574																																						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		15	391						15	391	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156918292	156918293	+	Splice_Site	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:156918292_156918293insG	ENST00000361409.2	-	22	2548		c.e22-2		ARHGEF11_ENST00000368194.3_Splice_Site|ARHGEF11_ENST00000315174.8_Splice_Site|ARHGEF11_ENST00000487682.1_5'Flank	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGCGTGAACTGGGGGGAAGGG	0.569																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.e23-2		Rho guanine nucleotide exchange factor (GEF) 11																																				SO:0001630	splice_region_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156918292_156918293insG	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1806-2->C	1.37:g.156918298_156918298dupG						ARHGEF11_ENST00000361409.2_Splice_Site|ARHGEF11_ENST00000315174.8_Splice_Site		NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			23	2965	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)							D3DVD0|Q5VY40|Q6PFW2	Splice_Site	INS	ENST00000361409.2	37		CCDS1162.1																																																																																				0.569	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	Intron	8	451						8	451	---	---	---	---
KIRREL	55243	broad.mit.edu	37	1	158058202	158058203	+	Frame_Shift_Ins	INS	-	-	C	rs548707549		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:158058202_158058203insC	ENST00000359209.6	+	8	1069_1070	c.1002_1003insC	c.(1003-1005)cccfs	p.P335fs	KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.P335fs|KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.P171fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.P232fs|KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.P235fs|KIRREL_ENST00000368172.1_Frame_Shift_Ins_p.P133fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	335	Ig-like C2-type 4.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGTTGGGAATCCCCCCCTCAC	0.455																																						ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(394-399)aaccccfs		kin of IRRE like (Drosophila)																																				SO:0001589	frameshift_variant	55243					integral to membrane		g.chr1:158058202_158058203insC	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1009dupC	1.37:g.158058209_158058209dupC	ENSP00000352138:p.Pro335fs					KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.NP234fs|KIRREL_ENST00000359209.6_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.NP231fs|KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.NP170fs	p.NP132fs			Q96J84	KIRR1_HUMAN			4	408_409	+	all_hematologic(112;0.0378)		334			Ig-like C2-type 2.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Frame_Shift_Ins	INS	ENST00000359209.6	37	c.396_397insC	CCDS1172.2																																																																																				0.455	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		10	313						10	313	---	---	---	---
CFAP45	25790	broad.mit.edu	37	1	159860345	159860346	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:159860345_159860346insT	ENST00000368099.4	-	3	260_261	c.196_197insA	c.(196-198)actfs	p.T66fs	CCDC19_ENST00000426543.2_5'UTR|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			AGCAGTGAGAGTTTTTTGAAGG	0.54																																						ENST00000368099.4																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(196-198)tctfs		coiled-coil domain containing 19																																				SO:0001589	frameshift_variant	25790					mitochondrion|soluble fraction		g.chr1:159860345_159860346insT																												ENST00000368099.4:c.197dupA	1.37:g.159860351_159860351dupT	ENSP00000357079:p.Thr66fs					CCDC19_ENST00000426543.2_5'UTR|CCDC19_ENST00000476696.1_5'UTR	p.S66fs	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		3	260_261	-	all_hematologic(112;0.0597)		66						Frame_Shift_Ins	INS	ENST00000368099.4	37	c.196_197insA	CCDS30914.1																																																																																				0.540	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			9	992						9	992	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:175096158_175096159insC	ENST00000239462.4	+	13	3095_3096	c.2982_2983insC	c.(2983-2985)cccfs	p.P995fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	995	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACCTGGACGCCCCCCTCTGC	0.505																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2980-2985)acccccfs		tenascin N																																				SO:0001589	frameshift_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175096158_175096159insC	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2988dupC	1.37:g.175096164_175096164dupC	ENSP00000239462:p.Pro995fs						p.TP994fs	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	13	3095_3096	+		Breast(1374;0.000962)	994			Fibronectin type-III 9.		B9EGP3|Q5R360	Frame_Shift_Ins	INS	ENST00000239462.4	37	c.2982_2983insC	CCDS30943.1																																																																																				0.505	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		9	999						9	999	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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			20	388						20	388	---	---	---	---
ABL2	27	broad.mit.edu	37	1	179084038	179084039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:179084038_179084039insG	ENST00000502732.1	-	9	1738_1739	c.1535_1536insC	c.(1534-1536)cctfs	p.P512fs	ABL2_ENST00000511413.1_Frame_Shift_Ins_p.P512fs|ABL2_ENST00000344730.3_Frame_Shift_Ins_p.P497fs|ABL2_ENST00000392043.3_Frame_Shift_Ins_p.P491fs|ABL2_ENST00000507173.1_Frame_Shift_Ins_p.P491fs|ABL2_ENST00000512653.1_Frame_Shift_Ins_p.P497fs|ABL2_ENST00000504405.1_Frame_Shift_Ins_p.P476fs|ABL2_ENST00000408940.3_Frame_Shift_Ins_p.P476fs|ABL2_ENST00000367623.4_Frame_Shift_Ins_p.P491fs	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	512	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CATAAACCTTAGGGGGGCATCC	0.386			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(1534-1536)caafs		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)																																			SO:0001589	frameshift_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179084038_179084039insG	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1536dupC	1.37:g.179084044_179084044dupG	ENSP00000427562:p.Pro512fs					ABL2_ENST00000507173.1_Frame_Shift_Ins_p.Q491fs|ABL2_ENST00000504405.1_Frame_Shift_Ins_p.Q476fs|ABL2_ENST00000344730.3_Frame_Shift_Ins_p.Q497fs|ABL2_ENST00000367623.4_Frame_Shift_Ins_p.Q491fs|ABL2_ENST00000512653.1_Frame_Shift_Ins_p.Q497fs|ABL2_ENST00000408940.3_Frame_Shift_Ins_p.Q476fs|ABL2_ENST00000392043.3_Frame_Shift_Ins_p.Q491fs|ABL2_ENST00000511413.1_Frame_Shift_Ins_p.Q512fs	p.Q512fs	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			9	1738_1739	-			512			Protein kinase.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Frame_Shift_Ins	INS	ENST00000502732.1	37	c.1535_1536insC	CCDS30947.1																																																																																				0.386	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		9	409						9	409	---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179620101	179620102	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:179620101_179620102insT	ENST00000367614.1	+	12	2259_2260	c.1900_1901insT	c.(1900-1902)attfs	p.I634fs	TDRD5_ENST00000444136.1_Frame_Shift_Ins_p.I634fs|TDRD5_ENST00000294848.8_Frame_Shift_Ins_p.I634fs	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	634					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AATCCTTAACATTTTTTTGTGT	0.411																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(1900-1902)tttfs		tudor domain containing 5																																				SO:0001589	frameshift_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179620101_179620102insT	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1907dupT	1.37:g.179620108_179620108dupT	ENSP00000356586:p.Ile634fs					TDRD5_ENST00000294848.8_Frame_Shift_Ins_p.F634fs|TDRD5_ENST00000367614.1_Frame_Shift_Ins_p.F634fs	p.F634fs	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			12	2150_2151	+			634					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Frame_Shift_Ins	INS	ENST00000367614.1	37	c.1900_1901insT	CCDS1332.1																																																																																				0.411	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		9	540						9	540	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4504-4506)cccfs	p.P1502fs	NAV1_ENST00000367302.1_Frame_Shift_Ins_p.P1455fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.P1442fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.P1108fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.P1494fs|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.P1499fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1502					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(4501-4506)gaccccfs		neuron navigator 1																																				SO:0001589	frameshift_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201779175_201779176insC	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4509dupC	1.37:g.201779181_201779181dupC	ENSP00000356265:p.Pro1502fs					NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|IPO9-AS1_ENST00000413035.1_RNA	p.DP1501fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			23	4923_4924	+			1501					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Frame_Shift_Ins	INS	ENST00000367296.4	37	c.4503_4504insC	CCDS1414.2																																																																																				0.525	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		18	794						18	794	---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204588926	204588927	+	Frame_Shift_Ins	INS	-	-	G	rs371687072|rs35463653	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:204588926_204588927insG	ENST00000367175.1	-	1	2406_2407	c.194_195insC	c.(193-195)ccgfs	p.P65fs	LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Frame_Shift_Ins_p.P65fs|LRRN2_ENST00000367177.3_Frame_Shift_Ins_p.P65fs			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	65	LRRNT.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CGGGGAGTGCCGGGGGGACTGC	0.634																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(193-195)cgcfs		leucine rich repeat neuronal 2																																				SO:0001589	frameshift_variant	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204588926_204588927insG	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.195dupC	1.37:g.204588932_204588932dupG	ENSP00000356143:p.Pro65fs					LRRN2_ENST00000367177.3_Frame_Shift_Ins_p.R65fs|LRRN2_ENST00000367176.3_Frame_Shift_Ins_p.R65fs	p.R65fs			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	2406_2407	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		65			LRRNT.		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Frame_Shift_Ins	INS	ENST00000367175.1	37	c.194_195insC	CCDS1448.1																																																																																				0.634	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		9	566						9	566	---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204589028	204589029	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:204589028_204589029insG	ENST00000367175.1	-	1	2304_2305	c.92_93insC	c.(91-93)cctfs	p.P31fs	LRRN2_ENST00000496057.1_5'UTR|LRRN2_ENST00000367176.3_Frame_Shift_Ins_p.P31fs|LRRN2_ENST00000367177.3_Frame_Shift_Ins_p.P31fs			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	31	LRRNT.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGGCACACTGAGGGGGGCAGGG	0.649																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(91-93)ccafs		leucine rich repeat neuronal 2																																				SO:0001589	frameshift_variant	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204589028_204589029insG	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.93dupC	1.37:g.204589034_204589034dupG	ENSP00000356143:p.Pro31fs					LRRN2_ENST00000367177.3_Frame_Shift_Ins_p.P31fs|LRRN2_ENST00000367176.3_Frame_Shift_Ins_p.P31fs|LRRN2_ENST00000496057.1_5'UTR	p.P31fs			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	2304_2305	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		31			LRRNT.		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Frame_Shift_Ins	INS	ENST00000367175.1	37	c.92_93insC	CCDS1448.1																																																																																				0.649	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		7	281						7	281	---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204924032	204924033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:204924032_204924033insC	ENST00000401399.1	+	6	687_688	c.488_489insC	c.(487-492)aaccccfs	p.NP163fs	NFASC_ENST00000404907.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000367172.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.NP163fs			O94856	NFASC_HUMAN	neurofascin	163	Ig-like C2-type 2.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.P159fs*12(1)|p.P165fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCCAGTGCAACCCCCCGCCTG	0.559																																						ENST00000367172.4																			2	Deletion - Frameshift(2)	p.P159fs*12(1)|p.P165fs*12(1)	large_intestine(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(487-489)accfs		neurofascin																																				SO:0001589	frameshift_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204924032_204924033insC	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.494dupC	1.37:g.204924038_204924038dupC	ENSP00000385637:p.Asn163fs					NFASC_ENST00000338515.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000401399.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.T157fs	p.T163fs			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		7	816_817	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		163			Ig-like C2-type 2.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Frame_Shift_Ins	INS	ENST00000401399.1	37	c.488_489insC	CCDS53460.1																																																																																				0.559	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		15	1283						15	1283	---	---	---	---
RBBP5	5929	broad.mit.edu	37	1	205065949	205065950	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:205065949_205065950insG	ENST00000264515.6	-	12	1397_1398	c.1256_1257insC	c.(1255-1257)ccafs	p.P419fs	RBBP5_ENST00000367164.1_Frame_Shift_Ins_p.P419fs	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	419					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTGCATCCGGTGGGGGGCCGTA	0.505																																						ENST00000264515.6																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(1255-1257)cccfs		retinoblastoma binding protein 5																																				SO:0001589	frameshift_variant	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205065949_205065950insG	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.1257dupC	1.37:g.205065955_205065955dupG	ENSP00000264515:p.Pro419fs					RBBP5_ENST00000367164.1_Frame_Shift_Ins_p.P419fs	p.P419fs	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		12	1397_1398	-	Breast(84;0.0505)		419					A8K272|Q7Z6D8|Q8NDZ7	Frame_Shift_Ins	INS	ENST00000264515.6	37	c.1256_1257insC	CCDS30983.1																																																																																				0.505	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		10	1047						10	1047	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:207642043_207642044insC	ENST00000367058.3	+	3	806_807	c.617_618insC	c.(616-621)gtccccfs	p.VP206fs	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000367057.3_Frame_Shift_Ins_p.VP206fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396																																						ENST00000367057.3																			1	Deletion - Frameshift(1)	p.T209fs*10(1)	breast(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(616-618)gccfs		complement component (3d/Epstein Barr virus) receptor 2																																				SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642043_207642044insC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.624dupC	1.37:g.207642050_207642050dupC	ENSP00000356025:p.Val206fs					CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs	p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			3	806_807	+			206			Sushi 3.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Ins	INS	ENST00000367058.3	37	c.617_618insC	CCDS1478.1																																																																																				0.396	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		21	393						21	393	---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208315786	208315787	+	Frame_Shift_Ins	INS	-	-	G	rs200374067	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:208315786_208315787insG	ENST00000367033.3	-	4	2150_2151	c.1393_1394insC	c.(1393-1395)catfs	p.H465fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	465	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.H465fs*57(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCCCACCATGGGGGGGACCG	0.594																																						ENST00000367033.3																			1	Deletion - Frameshift(1)	p.H465fs*57(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(1393-1395)tggfs		plexin A2																																				SO:0001589	frameshift_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208315786_208315787insG	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1394dupC	1.37:g.208315793_208315793dupG	ENSP00000356000:p.His465fs						p.W465fs	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	4	2150_2151	-			465			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Frame_Shift_Ins	INS	ENST00000367033.3	37	c.1393_1394insC	CCDS31013.1																																																																																				0.594	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		9	1295						9	1295	---	---	---	---
SERTAD4	56256	broad.mit.edu	37	1	210411418	210411419	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:210411418_210411419insC	ENST00000367012.3	+	2	343_344	c.113_114insC	c.(112-117)agccccfs	p.SP38fs	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	38						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GGAGGCCCAAGCCCCCCAGGGC	0.619																																						ENST00000367012.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14						c.(112-114)accfs		SERTA domain containing 4																																				SO:0001589	frameshift_variant	56256						protein binding	g.chr1:210411418_210411419insC	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.119dupC	1.37:g.210411424_210411424dupC	ENSP00000355979:p.Ser38fs					SERTAD4_ENST00000490620.1_3'UTR	p.T38fs	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)	2	343_344	+			38					B2RD32	Frame_Shift_Ins	INS	ENST00000367012.3	37	c.113_114insC	CCDS1494.1																																																																																				0.619	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		8	739						8	739	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215821895	215821896	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:215821895_215821896insG	ENST00000307340.3	-	66	14942_14943	c.14556_14557insC	c.(14554-14559)cccatgfs	p.M4853fs	USH2A_ENST00000366943.2_Frame_Shift_Ins_p.M4853fs	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4853	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGGGGAACATGGGGGGACTCC	0.54										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(14554-14559)cctgttfs		Usher syndrome 2A (autosomal recessive, mild)																																				SO:0001589	frameshift_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215821895_215821896insG	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14557dupC	1.37:g.215821901_215821901dupG	ENSP00000305941:p.Met4853fs	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Frame_Shift_Ins_p.V4853fs	p.V4853fs			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	66	14942_14943	-			4853			Fibronectin type-III 34.		Q5VVM9|Q6S362|Q9NS27	Frame_Shift_Ins	INS	ENST00000307340.3	37	c.14556_14557insC	CCDS31025.1																																																																																				0.540	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		8	507						8	507	---	---	---	---
TRIM17	51127	broad.mit.edu	37	1	228596934	228596935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:228596934_228596935insG	ENST00000366697.2	-	5	1777_1778	c.821_822insC	c.(820-822)ccafs	p.P274fs	TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.P274fs|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.P274fs|RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000366699.3_5'Flank|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.P274fs|TRIM11_ENST00000284551.6_5'Flank			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	274					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TGGGTCTGGTTGGGGGGGCAAC	0.579																																						ENST00000366697.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(820-822)cacfs		tripartite motif containing 17																																				SO:0001589	frameshift_variant	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228596934_228596935insG	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.822dupC	1.37:g.228596941_228596941dupG	ENSP00000355658:p.Pro274fs					RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.H274fs	p.H274fs			Q9Y577	TRI17_HUMAN			5	1777_1778	-		Prostate(94;0.0724)	274					B4DVJ2|Q5VST8	Frame_Shift_Ins	INS	ENST00000366697.2	37	c.821_822insC	CCDS1571.1																																																																																				0.579	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		17	545						17	545	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		8	273						8	273	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)caafs	p.Q150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.Q150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.49																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(448-450)aagfs		signal-induced proliferation-associated 1 like 2																																				SO:0001589	frameshift_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650637_232650638insG	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.449dupC	1.37:g.232650643_232650643dupG	ENSP00000355589:p.Gln150fs					SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs	p.K150fs			Q9P2F8	SI1L2_HUMAN			2	806_807	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	150					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Frame_Shift_Ins	INS	ENST00000366630.1	37	c.448_449insC	CCDS41474.1																																																																																				0.490	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		11	895						11	895	---	---	---	---
MAP10	54627	broad.mit.edu	37	1	232940911	232940912	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:232940911_232940912insA	ENST00000418460.1	+	1	269_270	c.142_143insA	c.(142-144)caafs	p.Q48fs		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	0					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										AACCATTACCCAAAAAACTCAC	0.371																																						ENST00000418460.1																			0											c.(142-144)aaafs		microtubule-associated protein 10																																				SO:0001589	frameshift_variant	54627							g.chr1:232940911_232940912insA	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.148dupA	1.37:g.232940917_232940917dupA	ENSP00000403208:p.Gln48fs						p.K48fs	NM_019090.2	NP_061963.2					1	269_270	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Frame_Shift_Ins	INS	ENST00000418460.1	37	c.142_143insA	CCDS44334.1																																																																																				0.371	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		7	980						7	980	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25523008	25523009	+	Splice_Site	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:25523008_25523009insG	ENST00000264709.3	-	3	513_514	c.176_177insC	c.(175-177)ccg>ccCg	p.P59fs	DNMT3A_ENST00000321117.5_Splice_Site_p.P59fs|DNMT3A_ENST00000406659.3_Splice_Site_p.P59fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	59					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACACTCACCGGGGGGTGCTT	0.649			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.e3+1		DNA (cytosine-5-)-methyltransferase 3 alpha																																				SO:0001630	splice_region_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25523008_25523009insG		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.177+1->C	2.37:g.25523014_25523014dupG						DNMT3A_ENST00000406659.3_Splice_Site_p.R59_splice|DNMT3A_ENST00000321117.5_Splice_Site_p.R59_splice	p.R59_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			3	513_514	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		59					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Splice_Site	INS	ENST00000264709.3	37	c.177_splice	CCDS33157.1																																																																																				0.649	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	Frame_Shift_Ins	26	843						26	843	---	---	---	---
GPR113	165082	broad.mit.edu	37	2	26534412	26534413	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:26534412_26534413insC	ENST00000311519.1	-	11	2182_2183	c.2183_2184insG	c.(2182-2184)ggtfs	p.G728fs	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Frame_Shift_Ins_p.G659fs|GPR113_ENST00000541401.1_Frame_Shift_Ins_p.G331fs|GPR113_ENST00000333478.6_Frame_Shift_Ins_p.G529fs	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	728	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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)	p.G529fs*46(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTGGACCAACCCCCCCTGCC	0.614																																						ENST00000333478.6																			1	Deletion - Frameshift(1)	p.G529fs*46(1)	large_intestine(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1585-1587)gtgfs		G protein-coupled receptor 113			,,	4,4258		0,4,2127					,,	0.4	1.0			77	5,8245		0,5,4120	no	frameshift,frameshift,frameshift	GPR113	NM_153835.3,NM_001145169.1,NM_001145168.1	,,	0,9,6247	A1A1,A1R,RR		0.0606,0.0939,0.0719	,,	,,		9,12503				SO:0001589	frameshift_variant	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26534412_26534413insC	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2184dupG	2.37:g.26534419_26534419dupC	ENSP00000307831:p.Gly728fs					GPR113_ENST00000541401.1_Frame_Shift_Ins_p.V331fs|GPR113_ENST00000311519.1_Frame_Shift_Ins_p.V728fs|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Frame_Shift_Ins_p.V659fs	p.V529fs	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			8	2168_2169	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		728					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Frame_Shift_Ins	INS	ENST00000311519.1	37	c.1586_1587insG	CCDS46239.1																																																																																				0.614	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		21	587						21	587	---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74480126	74480127	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:74480126_74480127insG	ENST00000377634.4	-	15	1641_1642	c.1242_1243insC	c.(1240-1245)cccaagfs	p.K415fs	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000394019.2_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.K415fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.K351fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.K351fs|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.K415fs					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGCACCTTCTTGGGGGGCTCAA	0.475																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1240-1245)ccagaafs		solute carrier family 4 (sodium bicarbonate cotransporter), member 5																																				SO:0001589	frameshift_variant	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74480126_74480127insG	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1243dupC	2.37:g.74480132_74480132dupG	ENSP00000366861:p.Lys415fs					SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.E415fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Frame_Shift_Ins_p.E415fs	p.E415fs	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			15	1639_1640	-			415						Frame_Shift_Ins	INS	ENST00000377634.4	37	c.1242_1243insC	CCDS1936.1																																																																																				0.475	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			16	940						16	940	---	---	---	---
CNGA3	1261	broad.mit.edu	37	2	99012743	99012744	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:99012743_99012744insC	ENST00000272602.2	+	7	1149_1150	c.1110_1111insC	c.(1111-1113)cccfs	p.P371fs	CNGA3_ENST00000409937.1_Frame_Shift_Ins_p.P375fs|CNGA3_ENST00000436404.2_Frame_Shift_Ins_p.P353fs|CNGA3_ENST00000393504.1_Frame_Shift_Ins_p.P371fs			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	371					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.V373fs*1(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GTGAGACCCCACCCCCCGTGAA	0.515																																						ENST00000393504.1																			1	Deletion - Frameshift(1)	p.V373fs*1(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(1108-1113)ccccccfs		cyclic nucleotide gated channel alpha 3																																				SO:0001589	frameshift_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99012743_99012744insC	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1116dupC	2.37:g.99012749_99012749dupC	ENSP00000272602:p.Pro371fs					CNGA3_ENST00000409937.1_Frame_Shift_Ins_p.PP374fs|CNGA3_ENST00000272602.2_Frame_Shift_Ins_p.PP370fs|CNGA3_ENST00000436404.2_Frame_Shift_Ins_p.PP352fs	p.PP370fs	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	1527_1528	+			370					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Frame_Shift_Ins	INS	ENST00000272602.2	37	c.1110_1111insC	CCDS2034.1																																																																																				0.515	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		7	451						7	451	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)tccfs	p.S241fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.S241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.S241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						TGTGATCATTTCCCCCCTCAAG	0.49																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(721-723)cccfs		interleukin 1 receptor, type II	Anakinra(DB00026)																																			SO:0001589	frameshift_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102638681_102638682insC	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.727dupC	2.37:g.102638687_102638687dupC	ENSP00000330959:p.Ser241fs					IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs	p.P241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			6	950_951	+			241			Ig-like C2-type 3.		D3DVJ5|Q6LCE6|Q9UE68	Frame_Shift_Ins	INS	ENST00000332549.3	37	c.721_722insC	CCDS2054.1																																																																																				0.490	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		10	366						10	366	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102644748	102644749	+	Frame_Shift_Ins	INS	-	-	G	rs145225100		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:102644748_102644749insG	ENST00000332549.3	+	9	1320_1321	c.1091_1092insG	c.(1090-1095)ttggggfs	p.LG364fs	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.LG364fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	364					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						TTCTTGGTTTTGGGGGGAATAT	0.515																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(1090-1092)tggfs		interleukin 1 receptor, type II	Anakinra(DB00026)																																			SO:0001589	frameshift_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102644748_102644749insG	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.1097dupG	2.37:g.102644754_102644754dupG	ENSP00000330959:p.Leu364fs					IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.W364fs	p.W364fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			9	1320_1321	+			364					D3DVJ5|Q6LCE6|Q9UE68	Frame_Shift_Ins	INS	ENST00000332549.3	37	c.1091_1092insG	CCDS2054.1																																																																																				0.515	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		8	353						8	353	---	---	---	---
AMMECR1L	83607	broad.mit.edu	37	2	128628473	128628474	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:128628473_128628474insG	ENST00000272647.5	-	5	807_808	c.547_548insC	c.(547-549)ctgfs	p.L183fs	AMMECR1L_ENST00000393001.1_Frame_Shift_Ins_p.L183fs	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	183	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CTCTCGGGTCAGGGGGGGAAAT	0.54																																						ENST00000272647.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(547-549)gacfs		AMMECR1-like																																				SO:0001589	frameshift_variant	83607							g.chr2:128628473_128628474insG		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.548dupC	2.37:g.128628480_128628480dupG	ENSP00000272647:p.Leu183fs					AMMECR1L_ENST00000393001.1_Frame_Shift_Ins_p.D183fs	p.D183fs	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	5	807_808	-	Colorectal(110;0.1)		183			AMMECR1.		B4E276	Frame_Shift_Ins	INS	ENST00000272647.5	37	c.547_548insC	CCDS2152.1																																																																																				0.540	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		21	498						21	498	---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128774049	128774050	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:128774049_128774050insG	ENST00000259235.3	-	4	627_628	c.498_499insC	c.(496-501)cccaagfs	p.K167fs	SAP130_ENST00000357702.5_Frame_Shift_Ins_p.K167fs|SAP130_ENST00000259234.6_Frame_Shift_Ins_p.K141fs	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	167	Pro-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCTGGAACCTTGGGGGGAAGTG	0.53																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(496-501)ccaggtfs		Sin3A-associated protein, 130kDa																																				SO:0001589	frameshift_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128774049_128774050insG	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.499dupC	2.37:g.128774055_128774055dupG	ENSP00000259235:p.Lys167fs					SAP130_ENST00000259234.6_Frame_Shift_Ins_p.G141fs|SAP130_ENST00000259235.3_Frame_Shift_Ins_p.G167fs	p.G167fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	4	629_630	-	Colorectal(110;0.1)		167			Pro-rich.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Frame_Shift_Ins	INS	ENST00000259235.3	37	c.498_499insC	CCDS2153.1																																																																																				0.530	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		8	451						8	451	---	---	---	---
NR4A2	4929	broad.mit.edu	37	2	157186373	157186374	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:157186373_157186374insG	ENST00000339562.4	-	3	687_688	c.325_326insC	c.(325-327)cagfs	p.Q109fs	NR4A2_ENST00000409108.2_Frame_Shift_Ins_p.Q109fs|NR4A2_ENST00000539077.1_Frame_Shift_Ins_p.Q120fs|NR4A2_ENST00000429376.1_Frame_Shift_Ins_p.Q46fs|NR4A2_ENST00000426264.1_Frame_Shift_Ins_p.Q46fs|NR4A2_ENST00000409572.1_Frame_Shift_Ins_p.Q109fs	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	109	Gln-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.Q109fs*3(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CTCCTCAGACTGGGGGGGCAGG	0.604																																						ENST00000339562.4																			1	Insertion - Frameshift(1)	p.Q109fs*3(1)	ovary(1)	breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(325-327)gtcfs		nuclear receptor subfamily 4, group A, member 2																																				SO:0001589	frameshift_variant	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157186373_157186374insG	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.326dupC	2.37:g.157186380_157186380dupG	ENSP00000344479:p.Gln109fs					NR4A2_ENST00000539077.1_Frame_Shift_Ins_p.V120fs|NR4A2_ENST00000409108.2_Frame_Shift_Ins_p.V109fs|NR4A2_ENST00000426264.1_Frame_Shift_Ins_p.V46fs|NR4A2_ENST00000429376.1_Frame_Shift_Ins_p.V46fs|NR4A2_ENST00000409572.1_Frame_Shift_Ins_p.V109fs	p.V109fs	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			3	687_688	-			109			Gln-rich.		Q16311|Q53RZ2|Q6NXU0	Frame_Shift_Ins	INS	ENST00000339562.4	37	c.325_326insC	CCDS2201.1																																																																																				0.604	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			18	246						18	246	---	---	---	---
CSRNP3	80034	broad.mit.edu	37	2	166532949	166532950	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:166532949_166532950insA	ENST00000342316.4	+	4	808_809	c.536_537insA	c.(535-540)acaaaafs	p.TK179fs	CSRNP3_ENST00000314499.7_Frame_Shift_Ins_p.TK179fs|CSRNP3_ENST00000409420.1_Frame_Shift_Ins_p.TK211fs	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	179					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CCTTTGCCAACAAAAAAACGAA	0.48																																						ENST00000314499.7																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(535-537)aaafs		cysteine-serine-rich nuclear protein 3																																				SO:0001589	frameshift_variant	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166532949_166532950insA	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.543dupA	2.37:g.166532956_166532956dupA	ENSP00000344042:p.Thr179fs					CSRNP3_ENST00000342316.4_Frame_Shift_Ins_p.K179fs|CSRNP3_ENST00000409420.1_Frame_Shift_Ins_p.K211fs	p.K179fs	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN			6	912_913	+			179					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Frame_Shift_Ins	INS	ENST00000342316.4	37	c.536_537insA	CCDS2225.1																																																																																				0.480	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		9	1205						9	1205	---	---	---	---
B3GALT1	8708	broad.mit.edu	37	2	168725850	168725851	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:168725850_168725851insG	ENST00000392690.3	+	1	393_394	c.301_302insG	c.(301-303)tggfs	p.W101fs	AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000305861.1_Frame_Shift_Ins_p.W101fs|AC016723.4_ENST00000436982.2_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	101					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.D103fs*10(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CAGAGAGACGTGGGGGGATGAG	0.475																																						ENST00000305861.1																			1	Deletion - Frameshift(1)	p.D103fs*10(1)	large_intestine(1)	cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(301-303)gggfs		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1																																				SO:0001589	frameshift_variant	8708				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:168725850_168725851insG	E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.307dupG	2.37:g.168725856_168725856dupG	ENSP00000376456:p.Trp101fs					AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000392690.2_Frame_Shift_Ins_p.G101fs|AC016723.4_ENST00000436982.2_RNA	p.G101fs	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN			2	652_653	+			101					D3DPB8|Q53SS2	Frame_Shift_Ins	INS	ENST00000392690.3	37	c.301_302insG	CCDS2227.1																																																																																				0.475	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	NM_020981		8	245						8	245	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:171240258_171240259insC	ENST00000408978.4	+	12	1367_1368	c.1224_1225insC	c.(1225-1227)cccfs	p.P409fs	MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.P409fs|MYO3B_ENST00000334231.6_Frame_Shift_Ins_p.P418fs|MYO3B_ENST00000602629.1_3'UTR	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			11	223						11	223	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179594285	179594286	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:179594285_179594286insG	ENST00000591111.1	-	62	17870_17871	c.17646_17647insC	c.(17644-17649)cccaccfs	p.T5883fs	TTN_ENST00000589042.1_Frame_Shift_Ins_p.T6200fs|TTN_ENST00000342992.6_Frame_Shift_Ins_p.T4956fs|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12683	Ig-like 40.				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)			CTGATAAAGGTGGGGGGTTCTA	0.46																																						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.(18595-18600)ccccttfs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594285_179594286insG	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.17647dupC	2.37:g.179594291_179594291dupG	ENSP00000465570:p.Thr5883fs					TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Frame_Shift_Ins_p.L5883fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Frame_Shift_Ins_p.L4956fs	p.L6200fs	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)		64	18821_18822	-			5883			Ig-like 43.		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	Frame_Shift_Ins	INS	ENST00000591111.1	37	c.18597_18598insC																																																																																					0.460	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	901						8	901	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G	rs201174472|rs387906384		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cacfs	p.H206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	GRCh37	CI992797	NEUROD1	I		c.(616-618)cctfs		neuronal differentiation 1																																				SO:0001589	frameshift_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542971_182542972insG	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.617dupC	2.37:g.182542978_182542978dupG	ENSP00000295108:p.His206fs					CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	p.P206fs	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1073_1074	-			206					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Ins	INS	ENST00000295108.3	37	c.616_617insC	CCDS2283.1																																																																																				0.619	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		7	197						7	197	---	---	---	---
FAM117B	150864	broad.mit.edu	37	2	203621968	203621969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:203621968_203621969insC	ENST00000392238.2	+	6	1137_1138	c.1137_1138insC	c.(1138-1140)cccfs	p.P380fs	FAM117B_ENST00000303116.6_Frame_Shift_Ins_p.P136fs			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	380										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ATCGTGCTCCACCCCCCCTTGT	0.485																																						ENST00000303116.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						c.(403-408)ccccccfs		family with sequence similarity 117, member B																																				SO:0001589	frameshift_variant	150864							g.chr2:203621968_203621969insC	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1144dupC	2.37:g.203621975_203621975dupC	ENSP00000376071:p.Pro380fs					FAM117B_ENST00000392238.2_Frame_Shift_Ins_p.PP379fs	p.PP135fs	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN			6	1147_1148	+			379					Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Frame_Shift_Ins	INS	ENST00000392238.2	37	c.405_406insC	CCDS33362.2																																																																																				0.485	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		7	202						7	202	---	---	---	---
ICOS	29851	broad.mit.edu	37	2	204820471	204820472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:204820471_204820472insG	ENST00000316386.6	+	2	238_239	c.171_172insG	c.(172-174)gggfs	p.G58fs	ICOS_ENST00000435193.1_Frame_Shift_Ins_p.G58fs	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	58	Ig-like V-type.				immune response (GO:0006955)|single organismal cell-cell adhesion (GO:0016337)|T cell costimulation (GO:0031295)|T cell tolerance induction (GO:0002517)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.Q60fs*8(1)		breast(1)|large_intestine(1)|lung(4)	6						AGTTGCTGAAAGGGGGGCAAAT	0.386																																						ENST00000316386.6																			1	Insertion - Frameshift(1)	p.Q60fs*8(1)	breast(1)	breast(1)|large_intestine(1)|lung(4)	6						c.(169-174)aaggggfs		inducible T-cell co-stimulator																																				SO:0001589	frameshift_variant	29851				immune response|T cell costimulation	extracellular region		g.chr2:204820471_204820472insG	AB023135	CCDS2363.1	2q33	2014-09-17			ENSG00000163600	ENSG00000163600		"""CD molecules"""	5351	protein-coding gene	gene with protein product	"""activation-inducible lymphocyte immunomediatory molecule"""	604558				9930702, 10617205	Standard	NM_012092		Approved	AILIM, CD278	uc002vam.3	Q9Y6W8	OTTHUMG00000132880	ENST00000316386.6:c.177dupG	2.37:g.204820477_204820477dupG	ENSP00000319476:p.Gly58fs					ICOS_ENST00000435193.1_Frame_Shift_Ins_p.KG57fs	p.KG57fs	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN			2	238_239	+			57			Ig-like V-type.		Q8N6W8	Frame_Shift_Ins	INS	ENST00000316386.6	37	c.171_172insG	CCDS2363.1																																																																																				0.386	ICOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256369.1	NM_012092		7	361						7	361	---	---	---	---
GPR1	2825	broad.mit.edu	37	2	207041591	207041592	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:207041591_207041592insA	ENST00000407325.2	-	3	742_743	c.380_381insT	c.(379-381)ttcfs	p.F127fs	GPR1_ENST00000437420.1_Frame_Shift_Ins_p.F127fs	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	127					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TCACTGTCAGGAAAAAAACACT	0.455																																						ENST00000407325.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18						c.(379-381)tctfs		G protein-coupled receptor 1																																				SO:0001589	frameshift_variant	2825					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:207041591_207041592insA		CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.381dupT	2.37:g.207041598_207041598dupA	ENSP00000384345:p.Phe127fs					GPR1_ENST00000437420.1_Frame_Shift_Ins_p.S127fs	p.S127fs	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)	3	742_743	-		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)	127					A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Frame_Shift_Ins	INS	ENST00000407325.2	37	c.380_381insT	CCDS2368.1																																																																																				0.455	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		9	735						9	735	---	---	---	---
RUFY4	285180	broad.mit.edu	37	2	218940309	218940310	+	Frame_Shift_Ins	INS	-	-	G	rs377110484		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:218940309_218940310insG	ENST00000344321.7	+	9	1612_1613	c.1094_1095insG	c.(1093-1098)tcggggfs	p.SG365fs	RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000374155.3_Frame_Shift_Ins_p.SG385fs	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	365							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCTA	0.594																																						ENST00000374155.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1153-1155)tggfs		RUN and FYVE domain containing 4																																				SO:0001589	frameshift_variant	285180						metal ion binding	g.chr2:218940309_218940310insG	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1100dupG	2.37:g.218940315_218940315dupG	ENSP00000345900:p.Ser365fs					RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Frame_Shift_Ins_p.W365fs	p.W385fs			Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1564_1565	+		Renal(207;0.0915)	365					Q6ZR96	Frame_Shift_Ins	INS	ENST00000344321.7	37	c.1154_1155insG																																																																																					0.594	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		7	219						7	219	---	---	---	---
GMPPA	29926	broad.mit.edu	37	2	220366589	220366590	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:220366589_220366590insC	ENST00000358215.3	+	5	628_629	c.259_260insC	c.(259-261)gccfs	p.A87fs	GMPPA_ENST00000341142.3_Frame_Shift_Ins_p.A87fs|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Frame_Shift_Ins_p.A87fs|GMPPA_ENST00000373917.3_Frame_Shift_Ins_p.A87fs|GMPPA_ENST00000313597.5_Frame_Shift_Ins_p.A87fs	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	87					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GCAGGAATTTGCCCCCCTAGGC	0.594																																						ENST00000358215.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(259-261)cccfs		GDP-mannose pyrophosphorylase A																																				SO:0001589	frameshift_variant	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220366589_220366590insC	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.265dupC	2.37:g.220366595_220366595dupC	ENSP00000350949:p.Ala87fs					GMPPA_ENST00000341142.3_Frame_Shift_Ins_p.P87fs|GMPPA_ENST00000313597.5_Frame_Shift_Ins_p.P87fs|GMPPA_ENST00000373908.1_Frame_Shift_Ins_p.P87fs|GMPPA_ENST00000373917.3_Frame_Shift_Ins_p.P87fs|AC053503.11_ENST00000429882.1_RNA	p.P87fs	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	5	628_629	+		Renal(207;0.0183)	87					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Frame_Shift_Ins	INS	ENST00000358215.3	37	c.259_260insC	CCDS2441.1																																																																																				0.594	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		7	321						7	321	---	---	---	---
ASIC4	55515	broad.mit.edu	37	2	220379872	220379873	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:220379872_220379873insC	ENST00000347842.3	+	1	821_822	c.807_808insC	c.(808-810)cccfs	p.P270fs	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000358078.4_Frame_Shift_Ins_p.P270fs	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	270					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										TGACAGGGCTGCCCCCCAAAGA	0.639																																						ENST00000358078.4																			0											c.(805-810)ctccccfs		acid-sensing (proton-gated) ion channel family member 4																																				SO:0001589	frameshift_variant	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220379872_220379873insC	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.813dupC	2.37:g.220379878_220379878dupC	ENSP00000326627:p.Pro270fs					ASIC4_ENST00000347842.3_Frame_Shift_Ins_p.LP269fs|AC053503.11_ENST00000429882.1_RNA	p.LP269fs			Q96FT7	ACCN4_HUMAN			1	821_822	+			269					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Frame_Shift_Ins	INS	ENST00000347842.3	37	c.807_808insC	CCDS2442.1																																																																																				0.639	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		8	307						8	307	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C	rs373650820		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)gccfs	p.A404fs	INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.A403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(1210-1212)cccfs		inositol polyphosphate-5-phosphatase, 145kDa																																				SO:0001589	frameshift_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234072358_234072359insC	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1217dupC	2.37:g.234072365_234072365dupC	ENSP00000352575:p.Ala404fs					INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs	p.P404fs			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	14	1210_1211	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	416					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Frame_Shift_Ins	INS	ENST00000359570.5	37	c.1210_1211insC																																																																																					0.535	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		29	587						29	587	---	---	---	---
TADA3	10474	broad.mit.edu	37	3	9831566	9831567	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:9831566_9831567insG	ENST00000301964.2	-	3	846_847	c.288_289insC	c.(286-291)cccaaafs	p.K97fs	TADA3_ENST00000440161.1_Frame_Shift_Ins_p.K97fs|TADA3_ENST00000343450.2_Frame_Shift_Ins_p.K97fs|ARPC4_ENST00000397261.3_5'Flank|ARPC4_ENST00000498623.2_5'Flank|TADA3_ENST00000492635.1_5'UTR|ARPC4_ENST00000287613.7_5'Flank	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	97					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						TTCCCATGTTTGGGGGGAGCTC	0.54																																						ENST00000343450.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(286-291)ccaacafs		transcriptional adaptor 3																																				SO:0001589	frameshift_variant	10474				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr3:9831566_9831567insG	AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.289dupC	3.37:g.9831572_9831572dupG	ENSP00000307684:p.Lys97fs					TADA3_ENST00000301964.2_Frame_Shift_Ins_p.T97fs|TADA3_ENST00000492635.1_5'UTR|TADA3_ENST00000440161.1_Frame_Shift_Ins_p.T97fs	p.T97fs	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN			3	835_836	-			97					Q6FI83|Q9UFS2	Frame_Shift_Ins	INS	ENST00000301964.2	37	c.288_289insC	CCDS2583.1																																																																																				0.540	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1			10	623						10	623	---	---	---	---
CIDEC	63924	broad.mit.edu	37	3	9908868	9908869	+	Frame_Shift_Ins	INS	-	-	G	rs370635418		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:9908868_9908869insG	ENST00000336832.2	-	6	805_806	c.666_667insC	c.(664-669)cccaagfs	p.K223fs	CIDEC_ENST00000443115.1_Frame_Shift_Ins_p.Q107fs|CIDEC_ENST00000383817.1_Frame_Shift_Ins_p.Q107fs|CIDEC_ENST00000455015.1_Frame_Shift_Ins_p.K149fs|CIDEC_ENST00000430427.1_Frame_Shift_Ins_p.K233fs|CIDEC_ENST00000423850.1_Frame_Shift_Ins_p.K149fs	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	223					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					GCCTTGCCCTTGGGGGGCTGCC	0.604																																						ENST00000336832.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8						c.(664-669)ccagggfs		cell death-inducing DFFA-like effector c																																				SO:0001589	frameshift_variant	63924				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus		g.chr3:9908868_9908869insG		CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.667dupC	3.37:g.9908874_9908874dupG	ENSP00000338642:p.Lys223fs					CIDEC_ENST00000455015.1_Frame_Shift_Ins_p.G149fs|CIDEC_ENST00000430427.1_Frame_Shift_Ins_p.G233fs|CIDEC_ENST00000383817.1_Frame_Shift_Ins_p.R107fs|CIDEC_ENST00000443115.1_Frame_Shift_Ins_p.R107fs|CIDEC_ENST00000423850.1_Frame_Shift_Ins_p.G149fs	p.G223fs	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN			6	805_806	-	Medulloblastoma(99;0.227)		223					C9JMN7|Q67DW9|Q9GZY9	Frame_Shift_Ins	INS	ENST00000336832.2	37	c.666_667insC	CCDS2587.1																																																																																				0.604	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		7	641						7	641	---	---	---	---
VHL	7428	broad.mit.edu	37	3	10188296	10188296	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:10188296delA	ENST00000256474.2	+	2	1279	c.439delA	c.(439-441)attfs	p.I147fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	147	Involved in binding to CCT complex.		I -> T (in pheochromocytoma). {ECO:0000269|PubMed:9663592}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.I147fs*12(4)|p.A149fs*25(4)|p.I147fs*27(2)|p.I147fs*13(1)|p.I147fs*25(1)|p.I147fs*26(1)|p.I147_F148del(1)|p.P146fs*23(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGGACAGCCTATTTTTGCCAA	0.418		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		16	Deletion - Frameshift(8)|Insertion - Frameshift(6)|Complex - frameshift(1)|Deletion - In frame(1)	p.I147fs*12(4)|p.A149fs*25(4)|p.I147fs*27(2)|p.I147fs*13(1)|p.I147fs*25(1)|p.I147fs*26(1)|p.I147_F148del(1)|p.P146fs*23(1)|p.G144fs*19(1)	kidney(16)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769						c.(439-441)ttfs		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							205.0	191.0	196.0					3																	10188296		2203	4300	6503	SO:0001589	frameshift_variant	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10188296delA	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.439delA	3.37:g.10188296delA	ENSP00000256474:p.Ile147fs					VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	p.I147fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	2	1279	+			147		I -> T (in pheochromocytoma).	Involved in binding to CCT complex.		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	c.439delA	CCDS2597.1																																																																																				0.418	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		12	437						12	437	---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25678721	25678721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:25678721delT	ENST00000264331.4	-	6	623	c.624delA	c.(622-624)aaafs	p.K208fs	TOP2B_ENST00000435706.2_Frame_Shift_Del_p.K203fs	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	208					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	TAAAACTGTGTTTGTATTCTT	0.308																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(607-609)aafs		topoisomerase (DNA) II beta 180kDa							53.0	49.0	50.0					3																	25678721		1781	4033	5814	SO:0001589	frameshift_variant	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25678721delT	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.624delA	3.37:g.25678721delT	ENSP00000264331:p.Lys208fs					TOP2B_ENST00000264331.4_Frame_Shift_Del_p.K208fs	p.K203fs			Q02880	TOP2B_HUMAN			6	810	-			208					Q13600|Q9UMG8|Q9UQP8	Frame_Shift_Del	DEL	ENST00000264331.4	37	c.609delA																																																																																					0.308	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				2	4						2	4	---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42679486	42679486	+	Frame_Shift_Del	DEL	A	A	-	rs150528581	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:42679486delA	ENST00000232978.8	+	13	2478	c.2290delA	c.(2290-2292)aaafs	p.K765fs	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	765	Arg/Ser-rich.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATCCAGTGGGAAAAAAAATAG	0.378																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(2290-2292)aafs		natural killer-tumor recognition sequence							86.0	86.0	86.0					3																	42679486		2203	4300	6503	SO:0001589	frameshift_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679486delA		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.2290delA	3.37:g.42679486delA	ENSP00000232978:p.Lys765fs					RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.K765fs	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2478	+			765			Arg/Ser-rich.			Frame_Shift_Del	DEL	ENST00000232978.8	37	c.2290delA	CCDS2702.1																																																																																				0.378	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		7	125						7	125	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48605038	48605039	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:48605038_48605039insC	ENST00000328333.8	-	108	8121_8122	c.8014_8015insG	c.(8014-8016)gccfs	p.A2672fs	COL7A1_ENST00000470076.1_5'Flank|COL7A1_ENST00000454817.1_Frame_Shift_Ins_p.A2640fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2672	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTGCCAGGGGCCCCCGACTGG	0.639																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(8014-8016)cccfs		collagen, type VII, alpha 1																																				SO:0001589	frameshift_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48605038_48605039insC	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.8015dupG	3.37:g.48605043_48605043dupC	ENSP00000332371:p.Ala2672fs					COL7A1_ENST00000454817.1_Frame_Shift_Ins_p.P2640fs	p.P2672fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	108	8121_8122	-			2672			Triple-helical region.		Q14054|Q16507	Frame_Shift_Ins	INS	ENST00000328333.8	37	c.8014_8015insG	CCDS2773.1																																																																																				0.639	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		7	105						7	105	---	---	---	---
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G	rs201949188		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(127-129)gggfs	p.G43fs	KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000479470.1_3'UTR	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	43	BTB.				protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465																																						ENST00000355076.6																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(124-129)ttggggfs		potassium channel tetramerization domain containing 6																																				SO:0001589	frameshift_variant	200845					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr3:58486771_58486772insG	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.133dupG	3.37:g.58486778_58486778dupG	ENSP00000347188:p.Gly43fs					KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR|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		8	130						8	130	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64532502	64532503	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:64532502_64532503insG	ENST00000498707.1	-	32	5337_5338	c.4995_4996insC	c.(4993-4998)cccagtfs	p.S1666fs	ADAMTS9_ENST00000295903.4_Frame_Shift_Ins_p.S1638fs	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1666	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGGTGAACACTGGGGGGCTGCG	0.535																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(4993-4998)ccgtgtfs		ADAM metallopeptidase with thrombospondin type 1 motif, 9																																				SO:0001589	frameshift_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64532502_64532503insG	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4996dupC	3.37:g.64532508_64532508dupG	ENSP00000418735:p.Ser1666fs					ADAMTS9_ENST00000295903.4_Frame_Shift_Ins_p.C1638fs	p.C1666fs	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	32	5337_5338	-		Lung NSC(201;0.00682)	1666			TSP type-1 14.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Frame_Shift_Ins	INS	ENST00000498707.1	37	c.4995_4996insC	CCDS2903.1																																																																																				0.535	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			7	859						7	859	---	---	---	---
PLCXD2	257068	broad.mit.edu	37	3	111394208	111394209	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:111394208_111394209insC	ENST00000477665.1	+	1	440_441	c.116_117insC	c.(115-120)ctccccfs	p.LP39fs	PLCXD2_ENST00000393934.3_Frame_Shift_Ins_p.LP39fs|PLCXD2-AS1_ENST00000493131.1_RNA	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	39					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ATGGCCTCGCTCCCCCCTCACC	0.545																																						ENST00000393934.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						c.(115-117)cccfs		phosphatidylinositol-specific phospholipase C, X domain containing 2																																				SO:0001589	frameshift_variant	257068				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr3:111394208_111394209insC	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.122dupC	3.37:g.111394214_111394214dupC	ENSP00000420686:p.Leu39fs					PLCXD2_ENST00000477665.1_Frame_Shift_Ins_p.P39fs	p.P39fs	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN			1	686_687	+			39					Q96N12	Frame_Shift_Ins	INS	ENST00000477665.1	37	c.116_117insC	CCDS54619.1																																																																																				0.545	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		7	415						7	415	---	---	---	---
PLA1A	51365	broad.mit.edu	37	3	119328374	119328375	+	Frame_Shift_Ins	INS	-	-	G	rs57578038		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:119328374_119328375insG	ENST00000273371.4	+	4	585_586	c.513_514insG	c.(514-516)gggfs	p.G172fs	PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000494440.1_Frame_Shift_Ins_p.G156fs|PLA1A_ENST00000495992.1_Frame_Shift_Ins_p.G156fs	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	172					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGCCCACGTTGGGGGCATGGT	0.574																																						ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(511-516)gtggggfs		phospholipase A1 member A																																				SO:0001589	frameshift_variant	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119328374_119328375insG	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.518dupG	3.37:g.119328379_119328379dupG	ENSP00000273371:p.Gly172fs					PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000495992.1_Frame_Shift_Ins_p.VG155fs|PLA1A_ENST00000494440.1_Frame_Shift_Ins_p.VG155fs	p.VG171fs	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN			4	585_586	+			171					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Frame_Shift_Ins	INS	ENST00000273371.4	37	c.513_514insG	CCDS2991.1																																																																																				0.574	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			7	993						7	993	---	---	---	---
LOC100507291	100507291	broad.mit.edu	37	3	139212981	139212982	+	RNA	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:139212981_139212982insC	ENST00000515247.1	+	0	317				AC097103.1_ENST00000580166.1_RNA																							GATGACCAAGGCCCCCCCTTGT	0.53																																						ENST00000515247.1																			0																																																			100507291							g.chr3:139212981_139212982insC																													3.37:g.139212988_139212988dupC														0	317	+									RNA	INS	ENST00000515247.1	37																																																																																						0.530	RP11-319G6.1-006	KNOWN	basic	antisense	antisense	OTTHUMT00000358488.1			16	258						16	258	---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151155577	151155578	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:151155577_151155578insT	ENST00000282466.3	-	6	6770_6771	c.6771_6772insA	c.(6769-6774)aaacacfs	p.H2258fs	IGSF10_ENST00000495443.1_5'UTR	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	2258	Ig-like C2-type 9.				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)			CAGTCAAAGTGTTTTTTGGAAT	0.416																																						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.(6769-6774)aaacttfs		immunoglobulin superfamily, member 10																																				SO:0001589	frameshift_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151155577_151155578insT	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.6772dupA	3.37:g.151155583_151155583dupT	ENSP00000282466:p.His2258fs					IGSF10_ENST00000495443.1_5'UTR	p.L2258fs	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)		6	6770_6771	-			2258			Ig-like C2-type 9.		Q86YJ9|Q8N772|Q8NA84	Frame_Shift_Ins	INS	ENST00000282466.3	37	c.6771_6772insA	CCDS3160.1																																																																																				0.416	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		15	1430						15	1430	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)gccfs	p.A253fs	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.A253fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GGTTAGGATGGCCCCCCGCAAG	0.515																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(757-759)catfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 5																																				SO:0001589	frameshift_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183700629_183700630insC	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.758dupG	3.37:g.183700635_183700635dupC	ENSP00000333926:p.Ala253fs					ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs	p.H253fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		6	997_998	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		253			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Frame_Shift_Ins	INS	ENST00000334444.6	37	c.757_758insG	CCDS43176.1																																																																																				0.515	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		9	577						9	577	---	---	---	---
HTR3C	170572	broad.mit.edu	37	3	183777416	183777417	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:183777416_183777417insC	ENST00000318351.1	+	7	947_948	c.913_914insC	c.(913-915)accfs	p.T305fs		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	305					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TGCCAGTGGCACCCCCCTCATC	0.584																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(913-915)cccfs		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic																																				SO:0001589	frameshift_variant	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777416_183777417insC	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.919dupC	3.37:g.183777422_183777422dupC	ENSP00000322617:p.Thr305fs						p.P305fs	NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	947_948	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		305					A2RRR5	Frame_Shift_Ins	INS	ENST00000318351.1	37	c.913_914insC	CCDS3250.1																																																																																				0.584	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		8	1188						8	1188	---	---	---	---
PSMD2	5708	broad.mit.edu	37	3	184026622	184026623	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:184026622_184026623insC	ENST00000310118.4	+	21	3229_3230	c.2671_2672insC	c.(2671-2673)accfs	p.T891fs	PSMD2_ENST00000435761.1_Frame_Shift_Ins_p.T732fs|PSMD2_ENST00000439383.1_Frame_Shift_Ins_p.T761fs|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	891					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 protein catabolic process (GO:0042176)|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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TCTTCCTGTTACCCCCATTCTG	0.52											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(24;313 636 6917 9932 15554)	ENST00000310118.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(2671-2673)cccfs		proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	Bortezomib(DB00188)																																			SO:0001589	frameshift_variant	5708				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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184026622_184026623insC	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.2676dupC	3.37:g.184026627_184026627dupC	ENSP00000310129:p.Thr891fs		OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1989	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Frame_Shift_Ins_p.P732fs|PSMD2_ENST00000439383.1_Frame_Shift_Ins_p.P761fs	p.P891fs	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		21	3229_3230	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		891					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Frame_Shift_Ins	INS	ENST00000310118.4	37	c.2671_2672insC	CCDS3258.1																																																																																				0.520	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		9	2055						9	2055	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195397992	195397993	+	lincRNA	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:195397992_195397993insT	ENST00000445430.1	+	0	919									long intergenic non-protein coding RNA 969																		TAAATGTGTGGTTTTTTGCAGG	0.391																																						ENST00000445430.1																			0																																																			440993							g.chr3:195397992_195397993insT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195397998_195397998dupT														0	919	+									RNA	INS	ENST00000445430.1	37																																																																																						0.391	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			10	1549						10	1549	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-687)gaccccfs	p.DP228fs	FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.DP252fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.DP228fs	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_ENST00000382839.3_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000545951.1_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	691						14	691	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)caafs	p.Q491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.Q510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1471-1473)agafs		unc-5 homolog C (C. elegans)																																				SO:0001589	frameshift_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140293_96140294insG	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1472dupC	4.37:g.96140299_96140299dupG	ENSP00000406022:p.Gln491fs					UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	p.R491fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1819_1820	-		Hepatocellular(203;0.114)	491					Q8IUT0	Frame_Shift_Ins	INS	ENST00000453304.1	37	c.1471_1472insC	CCDS3643.1																																																																																				0.505	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		13	421						13	421	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134071648	134071649	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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	155						7	155	---	---	---	---
PLEKHG4B	153478	broad.mit.edu	37	5	163105	163106	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:163105_163106insC	ENST00000283426.6	+	11	1900_1901	c.1850_1851insC	c.(1849-1854)agccccfs	p.SP617fs		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	617							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTTGCCCAGAGCCCCCCAAAGC	0.668																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(1849-1851)accfs		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B																																				SO:0001589	frameshift_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:163105_163106insC	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1856dupC	5.37:g.163111_163111dupC	ENSP00000283426:p.Ser617fs						p.T617fs	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	11	1900_1901	+			617						Frame_Shift_Ins	INS	ENST00000283426.6	37	c.1850_1851insC	CCDS34124.1																																																																																				0.668	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		2	4						2	4	---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16694605	16694606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:16694605_16694606insC	ENST00000513610.1	-	27	4128_4129	c.3674_3675insG	c.(3673-3675)ggcfs	p.G1225fs	MYO10_ENST00000274203.9_Frame_Shift_Ins_p.G582fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.G582fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.G564fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.G564fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1225	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.S1226fs*25(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCGTGGAGGAGCCCCCCCCTTT	0.564																																						ENST00000513610.1																			1	Insertion - Frameshift(1)	p.S1226fs*25(1)	pancreas(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3673-3675)gtcfs		myosin X				37,3583		4,29,1777						2.5	1.0			84	28,7806		3,22,3892	no	frameshift	MYO10	NM_012334.2		7,51,5669	A1A1,A1R,RR		0.3574,1.0221,0.5675				65,11389				SO:0001589	frameshift_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16694605_16694606insC	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3675dupG	5.37:g.16694613_16694613dupC	ENSP00000421280:p.Gly1225fs					MYO10_ENST00000505695.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.V582fs	p.V1225fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			27	4128_4129	-			1225			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Frame_Shift_Ins	INS	ENST00000513610.1	37	c.3674_3675insG	CCDS54834.1																																																																																				0.564	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		19	233						19	233	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)aggfs	p.R101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.R101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(301-303)gggfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31799656_31799657insG	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.308dupG	5.37:g.31799663_31799663dupG	ENSP00000402033:p.Arg101fs					PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs	p.G101fs			O15018	PDZD2_HUMAN			2	689_690	+			101			PDZ 1.		Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.301_302insG	CCDS34137.1																																																																																				0.574	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			10	230						10	230	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(931-933)gggfs	p.G311fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.G311fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	311					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGTGTGATTGGGGGGCAGCT	0.52																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(928-933)atggggfs		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36679798_36679799insG		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.936dupG	5.37:g.36679804_36679804dupG	ENSP00000265113:p.Gly311fs					SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs|CTD-2353F22.1_ENST00000510740.1_RNA	p.MG310fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1406_1407	+	all_lung(31;0.000245)		310					B2R5T3|Q4JCQ8	Frame_Shift_Ins	INS	ENST00000265113.4	37	c.930_931insG	CCDS3919.1																																																																																				0.520	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		9	444						9	444	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38407191	38407192	+	Frame_Shift_Ins	INS	-	-	G	rs540141603	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:38407191_38407192insG	ENST00000354891.3	+	8	1436_1437	c.1090_1091insG	c.(1090-1092)tggfs	p.W364fs	EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.W130fs|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000322350.5_Frame_Shift_Ins_p.W364fs	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	364	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.S367fs*12(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGACTACACCTGGGGGGGCTCG	0.545																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			1	Insertion - Frameshift(1)	p.S367fs*12(1)	large_intestine(1)	NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(1090-1092)gggfs		EGF-like, fibronectin type III and laminin G domains																																				SO:0001589	frameshift_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38407191_38407192insG	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1097dupG	5.37:g.38407198_38407198dupG	ENSP00000346964:p.Trp364fs					EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Frame_Shift_Ins_p.G364fs	p.G364fs	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			8	1436_1437	+	all_lung(31;0.000385)		364			EGF-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Frame_Shift_Ins	INS	ENST00000354891.3	37	c.1090_1091insG	CCDS56363.1																																																																																				0.545	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		7	157						7	157	---	---	---	---
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)caafs	p.Q595fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.Q595fs|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCTCCTCGTTGGGGGGCAGGA	0.5																																						ENST00000263413.3																			1	Substitution - Missense(1)	p.Q595K(1)	lung(1)	central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1783-1785)acgfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41159256_41159257insG	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1784dupC	5.37:g.41159262_41159262dupG	ENSP00000263413:p.Gln595fs					C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	p.T595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			12	2047_2048	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	595			TSP type-1 3.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.1783_1784insC	CCDS3936.1																																																																																				0.500	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			14	561						14	561	---	---	---	---
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C	rs372345940		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggagcfs	p.S277fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.S277fs|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96	GRCh37	CD982526	C6	D		c.(826-831)gggctcfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181559_41181560insC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.829dupG	5.37:g.41181566_41181566dupC	ENSP00000263413:p.Ser277fs					C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs|C6_ENST00000475349.1_5'UTR	p.L277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			7	1092_1093	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	277			MACPF.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.828_829insG	CCDS3936.1																																																																																				0.376	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			11	148						11	148	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		15	300						15	300	---	---	---	---
ENC1	8507	broad.mit.edu	37	5	73931125	73931126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		9	403						9	403	---	---	---	---
EDIL3	10085	broad.mit.edu	37	5	83360606	83360607	+	Frame_Shift_Ins	INS	-	-	G	rs192448414	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:83360606_83360607insG	ENST00000296591.5	-	8	1282_1283	c.864_865insC	c.(862-867)cccatafs	p.I289fs	EDIL3_ENST00000380138.3_Frame_Shift_Ins_p.I279fs|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	289	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGAGCTTTTATGGGGGGTGTGA	0.391																																						ENST00000296591.5																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.(862-867)cctaaafs		EGF-like repeats and discoidin I-like domains 3																																				SO:0001589	frameshift_variant	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83360606_83360607insG	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.865dupC	5.37:g.83360612_83360612dupG	ENSP00000296591:p.Ile289fs					EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Frame_Shift_Ins_p.K279fs	p.K289fs	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	8	1282_1283	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	289			F5/8 type C 1.		B2R763|O43855|Q5D094|Q8N610	Frame_Shift_Ins	INS	ENST00000296591.5	37	c.864_865insC	CCDS4062.1																																																																																				0.391	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		7	1075						7	1075	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		10	146						10	146	---	---	---	---
SLC22A5	6584	broad.mit.edu	37	5	131722730	131722731	+	Frame_Shift_Ins	INS	-	-	C	rs386134209|rs386134208		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		18	1855						18	1855	---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137727193	137727194	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:137727193_137727194insC	ENST00000314358.5	+	8	2072_2073	c.1872_1873insC	c.(1873-1875)cccfs	p.P625fs	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Frame_Shift_Ins_p.P281fs	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	625					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TATTTTTACAGCCCCCCAAATT	0.505																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(1870-1875)caccccfs		lysine (K)-specific demethylase 3B																																				SO:0001589	frameshift_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137727193_137727194insC	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1878dupC	5.37:g.137727199_137727199dupC	ENSP00000326563:p.Pro625fs					KDM3B_ENST00000394866.1_Frame_Shift_Ins_p.HP280fs|KDM3B_ENST00000542866.1_Intron	p.HP624fs	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			8	2072_2073	+			624					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Frame_Shift_Ins	INS	ENST00000314358.5	37	c.1872_1873insC	CCDS34242.1																																																																																				0.505	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		8	311						8	311	---	---	---	---
PCDHGC4	56098	broad.mit.edu	37	5	140865128	140865129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:140865128_140865129insC	ENST00000306593.1	+	1	388_389	c.388_389insC	c.(388-390)gccfs	p.A130fs	PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_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					PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_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		7	355						7	355	---	---	---	---
FCHSD1	89848	broad.mit.edu	37	5	141024642	141024643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:141024642_141024643insG	ENST00000435817.2	-	14	1434_1435	c.1384_1385insC	c.(1384-1386)caafs	p.Q462fs	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522126.1_Frame_Shift_Ins_p.Q386fs|FCHSD1_ENST00000522783.1_Frame_Shift_Ins_p.Q388fs	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	462									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCAGGGCTTGGGGGGCAGGC	0.589																																						ENST00000435817.2																		FCHSD1/BRAF(2)	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1384-1386)agcfs		FCH and double SH3 domains 1																																				SO:0001589	frameshift_variant	89848							g.chr5:141024642_141024643insG	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1385dupC	5.37:g.141024648_141024648dupG	ENSP00000399259:p.Gln462fs					FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Frame_Shift_Ins_p.S388fs|FCHSD1_ENST00000522126.1_Frame_Shift_Ins_p.S386fs	p.S462fs	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	1434_1435	-			462					Q6UX75|Q86Y77|Q9NXX8	Frame_Shift_Ins	INS	ENST00000435817.2	37	c.1384_1385insC	CCDS47295.1																																																																																				0.589	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		8	206						8	206	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)gggaggfs	p.R763fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.R425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.R665fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2284-2289)ggggatfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049341_141049342insC	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2287dupG	5.37:g.141049347_141049347dupC	ENSP00000239440:p.Arg763fs					ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs	p.D763fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			16	2351_2352	-			763					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2286_2287insG	CCDS4266.1																																																																																				0.579	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		23	877						23	877	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)ccafs	p.P743fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	743					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGTCAGTGGGTGGGGGGCTCAC	0.564																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2227-2229)cccfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049509_141049510insG	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2229dupC	5.37:g.141049515_141049515dupG	ENSP00000239440:p.Pro743fs					ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs	p.P743fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			15	2293_2294	-			743					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2228_2229insC	CCDS4266.1																																																																																				0.564	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		11	919						11	919	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G	rs199646351		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)cccaagfs	p.K224fs	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.48																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(667-672)ccagtcfs		protocadherin 12				5,4259		0,5,2127						5.1	1.0			79	6,8238		0,6,4116	no	frameshift	PCDH12	NM_016580.2		0,11,6243	A1A1,A1R,RR		0.0728,0.1173,0.0879				11,12497				SO:0001589	frameshift_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336747_141336748insG	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.670dupC	5.37:g.141336754_141336754dupG	ENSP00000231484:p.Lys224fs						p.V224fs	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1879_1880	-		all_hematologic(541;0.0999)	224			Cadherin 2.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Frame_Shift_Ins	INS	ENST00000231484.3	37	c.669_670insC	CCDS4269.1																																																																																				0.480	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		19	469						19	469	---	---	---	---
SPRY4	81848	broad.mit.edu	37	5	141694153	141694154	+	Frame_Shift_Ins	INS	-	-	G	rs369403370|rs144353509		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:141694153_141694154insG	ENST00000434127.2	-	2	763_764	c.520_521insC	c.(520-522)cggfs	p.R174fs	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Frame_Shift_Ins_p.R197fs	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	174	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAACGTCCGGGGGGATGCA	0.609									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(589-591)gacfs		sprouty homolog 4 (Drosophila)																																				SO:0001589	frameshift_variant	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694153_141694154insG	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.521dupC	5.37:g.141694159_141694159dupG	ENSP00000399468:p.Arg174fs					SPRY4_ENST00000434127.2_Frame_Shift_Ins_p.D174fs	p.D197fs	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	775_776	-		all_hematologic(541;0.118)	174			Cys-rich.|SPR.		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Frame_Shift_Ins	INS	ENST00000434127.2	37	c.589_590insC	CCDS47296.1																																																																																				0.609	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			10	620						10	620	---	---	---	---
LARS	51520	broad.mit.edu	37	5	145547778	145547779	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:145547778_145547779insG	ENST00000394434.2	-	5	510_511	c.344_345insC	c.(343-345)cctfs	p.P115fs	LARS_ENST00000510191.1_Frame_Shift_Ins_p.P61fs|LARS_ENST00000545646.1_Intron|LARS_ENST00000511505.1_Intron|LARS_ENST00000274562.9_Frame_Shift_Ins_p.P88fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	115					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)	CTGGAAAATCAGGGGGGCAACC	0.347																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(343-345)cgafs		leucyl-tRNA synthetase	L-Leucine(DB00149)																																			SO:0001589	frameshift_variant	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145547778_145547779insG	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.345dupC	5.37:g.145547784_145547784dupG	ENSP00000377954:p.Pro115fs					LARS_ENST00000545646.1_Intron|LARS_ENST00000274562.9_Frame_Shift_Ins_p.R88fs|LARS_ENST00000510191.1_Frame_Shift_Ins_p.R61fs|LARS_ENST00000511505.1_Intron	p.R115fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	510_511	-			115					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Frame_Shift_Ins	INS	ENST00000394434.2	37	c.344_345insC	CCDS34265.1																																																																																				0.347	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		8	264						8	264	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149212764	149212765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:149212764_149212765insC	ENST00000309241.5	+	5	1160_1161	c.1128_1129insC	c.(1129-1131)cccfs	p.P377fs	PPARGC1B_ENST00000394320.3_Frame_Shift_Ins_p.P377fs|PPARGC1B_ENST00000360453.4_Frame_Shift_Ins_p.P338fs|PPARGC1B_ENST00000403750.1_Frame_Shift_Ins_p.P313fs	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	377					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAAGGCCCAGGCCCCCCAAAGA	0.629																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(1126-1131)agccccfs		peroxisome proliferator-activated receptor gamma, coactivator 1 beta																																				SO:0001589	frameshift_variant	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149212764_149212765insC	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.1134dupC	5.37:g.149212770_149212770dupC	ENSP00000312649:p.Pro377fs					PPARGC1B_ENST00000360453.4_Frame_Shift_Ins_p.SP337fs|PPARGC1B_ENST00000394320.3_Frame_Shift_Ins_p.SP376fs|PPARGC1B_ENST00000403750.1_Frame_Shift_Ins_p.SP312fs	p.SP376fs	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	1160_1161	+			376					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Frame_Shift_Ins	INS	ENST00000309241.5	37	c.1128_1129insC	CCDS4298.1																																																																																				0.629	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		11	816						11	816	---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149580754	149580755	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:149580754_149580755insC	ENST00000230671.2	+	6	1197_1198	c.826_827insC	c.(826-828)accfs	p.T276fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.T276fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	276					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)	GTTCTATCTCACCCCCCAGTTC	0.634																																						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.(826-828)cccfs		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.chr5:149580754_149580755insC	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.832dupC	5.37:g.149580760_149580760dupC	ENSP00000230671:p.Thr276fs					SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.P276fs	p.P276fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1197_1198	+		all_hematologic(541;0.224)	276					Q0VG81|Q52LU6	Frame_Shift_Ins	INS	ENST00000230671.2	37	c.826_827insC	CCDS4305.1																																																																																				0.634	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		9	713						9	713	---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149581960	149581961	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		11	926						11	926	---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149755743	149755744	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:149755743_149755744insC	ENST00000504761.2	+	13	1992_1993	c.1992_1993insC	c.(1993-1995)gccfs	p.A665fs	TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.A588fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.A588fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000451292.1_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.A665fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	665			A -> P (in dbSNP:rs2071240). {ECO:0000269|PubMed:15019983, ECO:0000269|PubMed:8563749, ECO:0000269|PubMed:9074926, ECO:0000269|PubMed:9096354}.		skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGGCACCCAAGCCCCCCGGAA	0.584																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1990-1995)caccccfs		Treacher Collins-Franceschetti syndrome 1																																				SO:0001589	frameshift_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755743_149755744insC		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	Exception_encountered	5.37:g.149755743_149755744insC	ENSP00000421655:p.Ala665fs					TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.HP664fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.HP664fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.HP587fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.HP664fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.HP587fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.HP664fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.HP664fs	p.HP664fs			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2100_2101	+		all_hematologic(541;0.224)	664					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Frame_Shift_Ins	INS	ENST00000504761.2	37	c.1992_1993insC	CCDS54936.1																																																																																				0.584	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		10	497						10	497	---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:154181821_154181822insG	ENST00000336314.4	+	11	1764_1765	c.1740_1741insG	c.(1741-1743)gggfs	p.G581fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	658					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGCACCCAGGGGGGGACCG	0.55																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1738-1743)ccggggfs		La ribonucleoprotein domain family, member 1																																				SO:0001589	frameshift_variant	23367						protein binding|RNA binding	g.chr5:154181821_154181822insG	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1747dupG	5.37:g.154181828_154181828dupG	ENSP00000336721:p.Gly581fs						p.PG580fs	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	1764_1765	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	657					O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Ins	INS	ENST00000336314.4	37	c.1740_1741insG	CCDS4328.1																																																																																				0.550	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		11	1356						11	1356	---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156946934	156946935	+	Frame_Shift_Ins	INS	-	-	G	rs141344301		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:156946934_156946935insG	ENST00000517905.1	-	6	556_557	c.512_513insC	c.(511-513)ccgfs	p.P171fs	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.P173fs|ADAM19_ENST00000257527.4_Frame_Shift_Ins_p.P171fs			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	171					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACAGTTTCCCGGGGGCGGCTT	0.559																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(511-513)cggfs		ADAM metallopeptidase domain 19																																				SO:0001589	frameshift_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156946934_156946935insG	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.513dupC	5.37:g.156946939_156946939dupG	ENSP00000428654:p.Pro171fs					ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.R171fs|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.R173fs|ADAM19_ENST00000430702.2_5'UTR	p.R171fs	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		6	590_591	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	171					Q9BZL5|Q9UHP2	Frame_Shift_Ins	INS	ENST00000517905.1	37	c.512_513insC																																																																																					0.559	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		8	673						8	673	---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168250317	168250319	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:168250317_168250319delTGT	ENST00000519560.1	-	7	994_996	c.575_577delACA	c.(574-579)aacatc>atc	p.N192del	SLIT3_ENST00000404867.3_In_Frame_Del_p.N192del|SLIT3_ENST00000332966.8_In_Frame_Del_p.N192del	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	192					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGCGACTGATGTTGTTGTTGTT	0.537																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(574-579)atc>a		slit homolog 3 (Drosophila)																																				SO:0001651	inframe_deletion	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168250317_168250319delTGT	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.575_577delACA	5.37:g.168250326_168250328delTGT	ENSP00000430333:p.Asn192del					SLIT3_ENST00000404867.3_In_Frame_Del_p.NI192del|SLIT3_ENST00000332966.8_In_Frame_Del_p.NI192del	p.NI192del	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	994_996	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	192					A6H8U9|J3KNP3|O95804|Q9UFH5	In_Frame_Del	DEL	ENST00000519560.1	37	c.575_577delACA	CCDS4369.1																																																																																				0.537	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		7	1718						7	1718	---	---	---	---
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)cccaagfs	p.K274fs	KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.K255fs|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.K274fs|KIAA1191_ENST00000393728.2_5'UTR	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	274						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579																																						ENST00000298569.4																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(817-822)ccagatfs		KIAA1191																																				SO:0001589	frameshift_variant	57179						protein binding	g.chr5:175774701_175774702insG	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.820dupC	5.37:g.175774707_175774707dupG	ENSP00000298569:p.Lys274fs					KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs	p.D274fs	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	9	1352_1353	-	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	274					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Frame_Shift_Ins	INS	ENST00000298569.4	37	c.819_820insC	CCDS4399.1																																																																																				0.579	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		9	580						9	580	---	---	---	---
TRIM7	81786	broad.mit.edu	37	5	180630518	180630519	+	Intron	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:180630518_180630519insG	ENST00000274773.7	-	2	680				CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000422067.2_5'UTR|TRIM7_ENST00000393315.1_Intron|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000334421.5_Frame_Shift_Ins_p.P215fs|CTC-338M12.6_ENST00000511517.1_RNA|TRIM7_ENST00000361809.3_Intron|CTC-338M12.6_ENST00000514784.1_RNA|CTC-338M12.6_ENST00000419707.2_RNA|TRIM7_ENST00000393319.3_5'Flank|CTC-338M12.1_ENST00000503314.1_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7							cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|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)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TAATGTCCCACGGGGGGCCTGC	0.559																																					Esophageal Squamous(128;2258 2308 35507 48647)	ENST00000334421.5																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17						c.(643-645)ctgfs		tripartite motif containing 7																																				SO:0001627	intron_variant	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180630518_180630519insG	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.618+25->C	5.37:g.180630524_180630524dupG						TRIM7_ENST00000422067.2_5'UTR|TRIM7_ENST00000393315.1_Intron|TRIM7_ENST00000361809.3_Intron|TRIM7_ENST00000274773.7_Intron	p.L215fs	NM_033342.2	NP_203128.1	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	2	826_827	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|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)	0					A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Frame_Shift_Ins	INS	ENST00000274773.7	37	c.644_645insC	CCDS4462.1																																																																																				0.559	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		10	597						10	597	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13185110	13185111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:13185110_13185111insC	ENST00000379345.2	+	5	550_551	c.309_310insC	c.(310-312)cccfs	p.P104fs	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	43					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCTGCTACTGCCCCCCAAAAA	0.584																																						ENST00000379345.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(307-312)ctccccfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13185110_13185111insC	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379345.2:c.315dupC	6.37:g.13185116_13185116dupC	ENSP00000368650:p.Pro104fs					PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron	p.LP103fs			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		5	550_551	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	237					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379345.2	37	c.309_310insC																																																																																					0.584	PHACTR1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166420		15	514						15	514	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:29627216_29627217insC	ENST00000376917.3	+	2	438_439	c.209_210insC	c.(208-213)cgccccfs	p.RP70fs	MOG_ENST00000396704.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000533330.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000431798.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000490427.1_Intron|MOG_ENST00000416766.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376894.4_Frame_Shift_Ins_p.RP70fs	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569																																						ENST00000376894.4																			1	Deletion - Frameshift(1)	p.F73fs*29(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(208-210)cccfs		myelin oligodendrocyte glycoprotein																																				SO:0001589	frameshift_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627216_29627217insC		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.216dupC	6.37:g.29627223_29627223dupC	ENSP00000366115:p.Arg70fs					MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron	p.P70fs			Q16653	MOG_HUMAN			2	327_328	+			70			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Frame_Shift_Ins	INS	ENST00000376917.3	37	c.209_210insC	CCDS34370.1																																																																																				0.569	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		7	235						7	235	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30573780	30573780	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:30573780delG	ENST00000376511.2	-	10	1325	c.773delC	c.(772-774)cctfs	p.P258fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	258	Interaction with TOX4. {ECO:0000250}.				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						CTTCTCTGCAGGGGGAGTGGC	0.522																																						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.(772-774)ctfs		protein phosphatase 1, regulatory subunit 10							252.0	237.0	242.0					6																	30573780		2203	4300	6503	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.chr6:30573780delG	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.773delC	6.37:g.30573780delG	ENSP00000365694:p.Pro258fs						p.P258fs	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			10	1325	-			258			Interaction with TOX4 (By similarity).		O00405	Frame_Shift_Del	DEL	ENST00000376511.2	37	c.773delC	CCDS4681.1																																																																																				0.522	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		9	2090						9	2090	---	---	---	---
HLA-B	3106	broad.mit.edu	37	6	31323362	31323363	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:31323362_31323363insG	ENST00000412585.2	-	4	654_655	c.626_627insC	c.(625-627)ccafs	p.P209fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	209	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CGTGTGTCTTTGGGGGGTCTGA	0.579									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27	GRCh37	CI015132	HLA-B	I	rs67709394	c.(625-627)caafs		major histocompatibility complex, class I, B																																				SO:0001589	frameshift_variant	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31323362_31323363insG	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.627dupC	6.37:g.31323368_31323368dupG	ENSP00000399168:p.Pro209fs						p.Q209fs	NM_005514.6	NP_005505.2					4	654_655	-								Q29764	Frame_Shift_Ins	INS	ENST00000412585.2	37	c.626_627insC	CCDS34394.1																																																																																				0.579	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		9	321						9	321	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31617054	31617055	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:31617054_31617055insG	ENST00000375964.6	-	4	657_658	c.344_345insC	c.(343-345)cctfs	p.P115fs	BAG6_ENST00000404765.2_Frame_Shift_Ins_p.P115fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.P115fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.P115fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.P115fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.P115fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	115					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)	p.P115fs*53(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCCGAGTACCAGGGGGGGATCC	0.594																																						ENST00000404765.2																			1	Deletion - Frameshift(1)	p.P115fs*53(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(343-345)cggfs		BCL2-associated athanogene 6																																				SO:0001589	frameshift_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.chr6:31617054_31617055insG	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.345dupC	6.37:g.31617061_31617061dupG	ENSP00000365131:p.Pro115fs					BAG6_ENST00000439687.2_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.R115fs	p.R115fs			P46379	BAG6_HUMAN			4	633_634	-			115					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Frame_Shift_Ins	INS	ENST00000375964.6	37	c.344_345insC	CCDS47403.1																																																																																				0.594	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		7	521						7	521	---	---	---	---
ZBTB22	9278	broad.mit.edu	37	6	33283579	33283580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:33283579_33283580insC	ENST00000431845.2	-	2	1265_1266	c.1114_1115insG	c.(1114-1116)gagfs	p.E372fs	TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000456592.2_5'Flank|ZBTB22_ENST00000418724.1_Frame_Shift_Ins_p.E372fs|TAPBP_ENST00000489157.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GACCTGCTCCTCCCCCTTGTCT	0.599																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1114-1116)ggafs		zinc finger and BTB domain containing 22																																				SO:0001589	frameshift_variant	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283579_33283580insC	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1115dupG	6.37:g.33283584_33283584dupC	ENSP00000407545:p.Glu372fs					ZBTB22_ENST00000418724.1_Frame_Shift_Ins_p.G372fs	p.G372fs	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	1265_1266	-			372					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Frame_Shift_Ins	INS	ENST00000431845.2	37	c.1114_1115insG	CCDS4775.1																																																																																				0.599	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			7	672						7	672	---	---	---	---
PHF1	5252	broad.mit.edu	37	6	33383636	33383637	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:33383636_33383637insC	ENST00000374516.3	+	15	1736_1737	c.1465_1466insC	c.(1465-1467)gccfs	p.A489fs	CUTA_ENST00000492510.1_5'Flank|PHF1_ENST00000374512.3_Frame_Shift_Ins_p.P454fs	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	489					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A489V(1)|p.H491fs*3(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCCTAAAAGTGCCCCCCACTCG	0.53																																						ENST00000374516.3																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.A489V(1)|p.H491fs*3(1)	ovary(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1465-1467)cccfs		PHD finger protein 1																																				SO:0001589	frameshift_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33383636_33383637insC	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1471dupC	6.37:g.33383642_33383642dupC	ENSP00000363640:p.Ala489fs					PHF1_ENST00000374512.3_Frame_Shift_Ins_p.VP453fs	p.P489fs	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			15	1736_1737	+		Ovarian(999;0.0443)	489					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Frame_Shift_Ins	INS	ENST00000374516.3	37	c.1465_1466insC	CCDS4777.1																																																																																				0.530	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			8	623						8	623	---	---	---	---
ZBTB9	221504	broad.mit.edu	37	6	33423711	33423712	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:33423711_33423712insC	ENST00000395064.2	+	2	1102_1103	c.834_835insC	c.(835-837)cccfs	p.P279fs		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	279	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						CTCCTGCACTGCCCCCCAAAAT	0.564																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(832-837)ctccccfs		zinc finger and BTB domain containing 9																																				SO:0001589	frameshift_variant	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423711_33423712insC	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.840dupC	6.37:g.33423717_33423717dupC	ENSP00000378503:p.Pro279fs						p.LP278fs	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	1102_1103	+			278			Pro-rich.		A2AB19	Frame_Shift_Ins	INS	ENST00000395064.2	37	c.834_835insC	CCDS4780.1																																																																																				0.564	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		8	398						8	398	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C	rs587778337		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)gccfs	p.A308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.54			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""N, F, S"""	"""Fanconi anemia, complementation group E"""			L		"""AML, leukemia"""			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(922-924)cccfs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E				16,4248		0,16,2116						-5.8	0.0		dbSNP_130	75	14,8240		0,14,4113	no	frameshift	FANCE	NM_021922.2		0,30,6229	A1A1,A1R,RR		0.1696,0.3752,0.2397				30,12488				SO:0001589	frameshift_variant	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35425714_35425715insC	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.929dupC	6.37:g.35425721_35425721dupC	ENSP00000229769:p.Ala308fs						p.P308fs	NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN			4	1107_1108	+			308			Interaction with FANCC.		A8K907|Q4ZGH2	Frame_Shift_Ins	INS	ENST00000229769.2	37	c.922_923insC	CCDS4805.1																																																																																				0.540	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			16	384						16	384	---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42237200	42237201	+	Frame_Shift_Ins	INS	-	-	C	rs138805200	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:42237200_42237201insC	ENST00000372922.4	-	5	690_691	c.128_129insG	c.(127-129)ggcfs	p.G43fs	TRERF1_ENST00000372917.4_Frame_Shift_Ins_p.G43fs|TRERF1_ENST00000340840.2_Frame_Shift_Ins_p.G43fs|TRERF1_ENST00000354325.2_Frame_Shift_Ins_p.G43fs|TRERF1_ENST00000541110.1_Frame_Shift_Ins_p.G43fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	43					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CATCCATTCCGCCCCCTGTAAC	0.564																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(127-129)gggfs		transcriptional regulating factor 1																																				SO:0001589	frameshift_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42237200_42237201insC	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.129dupG	6.37:g.42237205_42237205dupC	ENSP00000362013:p.Gly43fs					TRERF1_ENST00000372922.4_Frame_Shift_Ins_p.G43fs|TRERF1_ENST00000372917.4_Frame_Shift_Ins_p.G43fs|TRERF1_ENST00000354325.2_Frame_Shift_Ins_p.G43fs|TRERF1_ENST00000340840.2_Frame_Shift_Ins_p.G43fs	p.G43fs			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	696_697	-	Colorectal(47;0.196)		43					Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Ins	INS	ENST00000372922.4	37	c.128_129insG	CCDS4867.1																																																																																				0.564	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		8	344						8	344	---	---	---	---
DLK2	65989	broad.mit.edu	37	6	43418590	43418591	+	Frame_Shift_Ins	INS	-	-	G	rs201087688	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:43418590_43418591insG	ENST00000357338.3	-	6	1538_1539	c.838_839insC	c.(838-840)cacfs	p.H280fs	DLK2_ENST00000372488.3_Frame_Shift_Ins_p.H280fs|DLK2_ENST00000414245.1_Frame_Shift_Ins_p.H274fs|DLK2_ENST00000372485.1_Frame_Shift_Ins_p.H274fs	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	280					negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCCTGCGCTGTGGGGGGCTGGC	0.644																																						ENST00000357338.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(838-840)cagfs		delta-like 2 homolog (Drosophila)																																				SO:0001589	frameshift_variant	65989					integral to membrane	calcium ion binding	g.chr6:43418590_43418591insG	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.839dupC	6.37:g.43418596_43418596dupG	ENSP00000349893:p.His280fs					DLK2_ENST00000414245.1_Frame_Shift_Ins_p.Q274fs|DLK2_ENST00000372485.1_Frame_Shift_Ins_p.Q274fs|DLK2_ENST00000372488.3_Frame_Shift_Ins_p.Q280fs	p.Q280fs	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1538_1539	-	all_lung(25;0.00536)		280					B3KNZ7|Q5T3T8|Q9BQ54	Frame_Shift_Ins	INS	ENST00000357338.3	37	c.838_839insC	CCDS4897.1																																																																																				0.644	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		9	353						9	353	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)tccfs	p.S9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564																																						ENST00000370862.3																			1	Deletion - Frameshift(1)	p.P11fs*11(1)	upper_aerodigestive_tract(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(25-27)cccfs		hypocretin (orexin) receptor 2																																				SO:0001589	frameshift_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039410_55039411insC	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.32dupC	6.37:g.55039417_55039417dupC	ENSP00000359899:p.Ser9fs						p.P9fs	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	361_362	+	Lung NSC(77;0.107)|Renal(3;0.122)		9					Q5VTM0	Frame_Shift_Ins	INS	ENST00000370862.3	37	c.25_26insC	CCDS4956.1																																																																																				0.564	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			14	427						14	427	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90372572	90372574	+	In_Frame_Del	DEL	TCA	TCA	-	rs36040566	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:90372572_90372574delTCA	ENST00000369393.3	-	86	14464_14466	c.14349_14351delTGA	c.(14347-14352)gatgag>gag	p.D4783del	MDN1_ENST00000428876.1_In_Frame_Del_p.D4783del			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4783			D -> E (in dbSNP:rs36040566).		ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		atcttcctcctcatcATCATCAC	0.458																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(14347-14352)gag>ga		MDN1, midasin homolog (yeast)																																				SO:0001651	inframe_deletion	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90372572_90372574delTCA	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14349_14351delTGA	6.37:g.90372581_90372583delTCA	ENSP00000358400:p.Asp4783del					MDN1_ENST00000428876.1_In_Frame_Del_p.DE4783del	p.DE4783del			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	86	14464_14466	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4783		D -> E (in dbSNP:rs36040566).			O15019|Q5T794	In_Frame_Del	DEL	ENST00000369393.3	37	c.14349_14351delTGA	CCDS5024.1																																																																																				0.458	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			7	1728						7	1728	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		20	516						20	516	---	---	---	---
IPCEF1	26034	broad.mit.edu	37	6	154481012	154481013	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:154481012_154481013insG	ENST00000265198.4	-	12	1419_1420	c.1264_1265insC	c.(1264-1266)cagfs	p.Q422fs	IPCEF1_ENST00000422970.2_Frame_Shift_Ins_p.Q423fs|IPCEF1_ENST00000519344.1_Frame_Shift_Ins_p.Q394fs|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000367220.4_Frame_Shift_Ins_p.Q423fs	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	422					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						CTTGAGTTCCTGGGGGGTGTCA	0.46																																						ENST00000265198.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						c.(1264-1266)ggafs		interaction protein for cytohesin exchange factors 1																																				SO:0001589	frameshift_variant	26034							g.chr6:154481012_154481013insG	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.1265dupC	6.37:g.154481018_154481018dupG	ENSP00000265198:p.Gln422fs					IPCEF1_ENST00000367220.4_Frame_Shift_Ins_p.G423fs|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000422970.2_Frame_Shift_Ins_p.G423fs|IPCEF1_ENST00000519344.1_Frame_Shift_Ins_p.G394fs	p.G422fs	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1					12	1419_1420	-								A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Frame_Shift_Ins	INS	ENST00000265198.4	37	c.1264_1265insC	CCDS5245.1																																																																																				0.460	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699		7	424						7	424	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)tggfs	p.W360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.W360fs	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1078-1080)gggfs		eukaryotic translation initiation factor 3, subunit B																																				SO:0001589	frameshift_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2404085_2404086insG	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1085dupG	7.37:g.2404092_2404092dupG	ENSP00000354125:p.Trp360fs					EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	p.G360fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	6	1134_1135	+		Ovarian(82;0.0253)	360			Sufficient for interaction with EIF3E.			Frame_Shift_Ins	INS	ENST00000360876.4	37	c.1078_1079insG	CCDS5332.1																																																																																				0.475	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			10	275						10	275	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20785034	20785034	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:20785034delC	ENST00000404938.2	+	26	4054	c.3402delC	c.(3400-3402)atcfs	p.I1134fs	ABCB5_ENST00000258738.6_Frame_Shift_Del_p.I689fs	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1134	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGCAAATATCCATTCTTTTA	0.428																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(3400-3402)atfs		ATP-binding cassette, sub-family B (MDR/TAP), member 5							68.0	62.0	64.0					7																	20785034		2203	4300	6503	SO:0001589	frameshift_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20785034delC	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3402delC	7.37:g.20785034delC	ENSP00000384881:p.Ile1134fs					ABCB5_ENST00000258738.6_Frame_Shift_Del_p.I689fs	p.I1134fs	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			26	4054	+			689					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Frame_Shift_Del	DEL	ENST00000404938.2	37	c.3402delC	CCDS55090.1																																																																																				0.428	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		26	392						26	392	---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron	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	288						12	288	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86415681	86415682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:86415681_86415682insC	ENST00000361669.2	+	3	1672_1673	c.573_574insC	c.(574-576)cccfs	p.P192fs	GRM3_ENST00000394720.2_Frame_Shift_Ins_p.P190fs|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.P64fs|AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.P192fs	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	192					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCAGGACCGTGCCCCCCGACTT	0.564																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(571-576)gtccccfs		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)																																			SO:0001589	frameshift_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415681_86415682insC		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.579dupC	7.37:g.86415687_86415687dupC	ENSP00000355316:p.Pro192fs					GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs	p.VP191fs	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1672_1673	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		191					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Frame_Shift_Ins	INS	ENST00000361669.2	37	c.573_574insC	CCDS5600.1																																																																																				0.564	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			12	479						12	479	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11244)atggggfs	p.MG3747fs	AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.MG3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.MG3743fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11239-11241)aggfs		A kinase (PRKA) anchor protein 9																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91732038_91732039insG	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11247dupG	7.37:g.91732045_91732045dupG	ENSP00000351922:p.Met3747fs					AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs	p.R3747fs			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		46	11465_11466	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3747					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Ins	INS	ENST00000359028.2	37	c.11240_11241insG																																																																																					0.535	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		11	124						11	124	---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107613473	107613473	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:107613473delG	ENST00000222399.6	-	13	1756	c.1526delC	c.(1525-1527)ccafs	p.P509fs	LAMB1_ENST00000393561.1_Frame_Shift_Del_p.P533fs|LAMB1_ENST00000393560.1_Frame_Shift_Del_p.P509fs	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	509	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						ACAGTCACATGGTCGACATCC	0.453																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(1597-1599)cafs		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						232.0	177.0	196.0					7																	107613473		2203	4300	6503	SO:0001589	frameshift_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107613473delG	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1526delC	7.37:g.107613473delG	ENSP00000222399:p.Pro509fs					LAMB1_ENST00000222399.6_Frame_Shift_Del_p.P509fs|LAMB1_ENST00000393560.1_Frame_Shift_Del_p.P509fs	p.P533fs			P07942	LAMB1_HUMAN			11	1782	-			509			Laminin EGF-like 5; truncated.		Q14D91	Frame_Shift_Del	DEL	ENST00000222399.6	37	c.1598delC	CCDS5750.1																																																																																				0.453	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		11	542						11	542	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173277	126173278	+	Frame_Shift_Ins	INS	-	-	G	rs77499554		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:126173277_126173278insG	ENST00000339582.2	-	9	2966_2967	c.2158_2159insC	c.(2158-2160)cacfs	p.H720fs	GRM8_ENST00000358373.3_Frame_Shift_Ins_p.H720fs|GRM8_ENST00000480995.1_5'UTR|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_ENST00000444921.2_Frame_Shift_Ins_p.H720fs|GRM8_ENST00000480995.1_5'UTR|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			14	140						14	140	---	---	---	---
AKR1B1	231	broad.mit.edu	37	7	134133160	134133161	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:134133160_134133161insG	ENST00000285930.4	-	6	716_717	c.637_638insC	c.(637-639)ctcfs	p.L213fs	AKR1B1_ENST00000489022.1_5'Flank	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	213					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	AGGAGAGCCGAGGGGGCTGTAG	0.505																																						ENST00000285930.4																			0				kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14						c.(637-639)cggfs		aldo-keto reductase family 1, member B1 (aldose reductase)	NADH(DB00157)|Sulindac(DB00605)																																			SO:0001589	frameshift_variant	231				C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr7:134133160_134133161insG	J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.638dupC	7.37:g.134133165_134133165dupG	ENSP00000285930:p.Leu213fs						p.R213fs	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN			6	716_717	-			213					B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Frame_Shift_Ins	INS	ENST00000285930.4	37	c.637_638insC	CCDS5831.1																																																																																				0.505	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628		15	2635						15	2635	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138603455	138603456	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:138603455_138603456insC	ENST00000422774.1	-	2	964_965	c.916_917insG	c.(916-918)gagfs	p.E306fs	KIAA1549_ENST00000440172.1_Frame_Shift_Ins_p.E306fs|KIAA1549_ENST00000242365.4_Frame_Shift_Ins_p.E256fs			Q9HCM3	K1549_HUMAN	KIAA1549	306						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTGTGAGACCTCCCCCAAGGAG	0.52			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(916-918)ggtfs		KIAA1549																																				SO:0001589	frameshift_variant	57670					integral to membrane		g.chr7:138603455_138603456insC		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.917dupG	7.37:g.138603460_138603460dupC	ENSP00000416040:p.Glu306fs					KIAA1549_ENST00000242365.4_Frame_Shift_Ins_p.G256fs|KIAA1549_ENST00000422774.1_Frame_Shift_Ins_p.G306fs	p.G306fs	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	964_965	-			306					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Frame_Shift_Ins	INS	ENST00000422774.1	37	c.916_917insG	CCDS56513.1																																																																																				0.520	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			7	600						7	600	---	---	---	---
ADCK2	90956	broad.mit.edu	37	7	140394593	140394594	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:140394593_140394594insC	ENST00000072869.4	+	8	2049_2050	c.1871_1872insC	c.(1870-1875)tgccccfs	p.CP624fs	NDUFB2_ENST00000204307.5_5'Flank|NDUFB2-AS1_ENST00000465466.1_RNA|NDUFB2_ENST00000476470.1_5'Flank|NDUFB2_ENST00000471136.1_5'Flank|NDUFB2_ENST00000482954.1_Intron|NDUFB2_ENST00000247866.4_5'Flank|NDUFB2_ENST00000460088.1_5'Flank|NDUFB2_ENST00000476279.1_5'Flank|ADCK2_ENST00000476491.1_Intron|NDUFB2_ENST00000465506.1_5'Flank|NDUFB2_ENST00000461457.1_5'Flank|NDUFB2_ENST00000472695.1_5'Flank	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	624						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GGCCCAGTGTGCCCCCCGTGAT	0.619																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(1870-1872)tccfs		aarF domain containing kinase 2																																				SO:0001589	frameshift_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140394593_140394594insC	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1877dupC	7.37:g.140394599_140394599dupC	ENSP00000072869:p.Cys624fs					NDUFB2_ENST00000482954.1_Intron|ADCK2_ENST00000476491.1_Intron	p.S624fs	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			8	2049_2050	+	Melanoma(164;0.00956)		624					Q96CN6|Q9Y6T5	Frame_Shift_Ins	INS	ENST00000072869.4	37	c.1871_1872insC	CCDS5861.1																																																																																				0.619	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		13	972						13	972	---	---	---	---
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C	rs574092449|rs372744309	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160									T cell receptor beta variable 4-2																		TTTGTCCCTTTCCCCCCGCAGT	0.485																																						ENST00000390392.3																			0																																																			28616							g.chr7:142045511_142045512insC	U07975		7q34	2012-02-07			ENSG00000211745	ENSG00000211745		"""T cell receptors / TRB locus"""	12216	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV42, TCRBV4S2, TCRBV7S3A2T			OTTHUMG00000158525		7.37:g.142045517_142045517dupC														0	160	+									RNA	INS	ENST00000390392.3	37																																																																																						0.485	TRBV4-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351231.1	NG_001333		8	879						8	879	---	---	---	---
TMEM139	135932	broad.mit.edu	37	7	142983604	142983605	+	Frame_Shift_Ins	INS	-	-	C	rs200902226		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:142983604_142983605insC	ENST00000359333.3	+	3	846_847	c.333_334insC	c.(334-336)cccfs	p.P112fs	CASP2_ENST00000392925.2_5'Flank|TMEM139_ENST00000410004.1_Frame_Shift_Ins_p.P112fs|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000409244.1_Frame_Shift_Ins_p.P112fs|TMEM139_ENST00000409102.1_Frame_Shift_Ins_p.P112fs|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000409541.1_Frame_Shift_Ins_p.P112fs|CASP2_ENST00000310447.5_5'Flank|TMEM139_ENST00000471161.1_3'UTR	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	112						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					TGGACCAACCACCCCCCTACAG	0.574																																						ENST00000359333.3																			0				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7						c.(331-336)ccccccfs		transmembrane protein 139																																				SO:0001589	frameshift_variant	135932					integral to membrane		g.chr7:142983604_142983605insC	AK075067	CCDS5878.1	7q34	2006-03-17			ENSG00000178826	ENSG00000178826			22058	protein-coding gene	gene with protein product							Standard	NM_153345		Approved	FLJ90586	uc003wck.4	Q8IV31	OTTHUMG00000152652	ENST00000359333.3:c.339dupC	7.37:g.142983610_142983610dupC	ENSP00000352284:p.Pro112fs					TMEM139_ENST00000409102.1_Frame_Shift_Ins_p.PP111fs|TMEM139_ENST00000409244.1_Frame_Shift_Ins_p.PP111fs|TMEM139_ENST00000410004.1_Frame_Shift_Ins_p.PP111fs|AC073342.12_ENST00000427392.1_RNA|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000409541.1_Frame_Shift_Ins_p.PP111fs	p.PP111fs	NM_001242775.1	NP_001229704.1	Q8IV31	TM139_HUMAN			3	846_847	+	Melanoma(164;0.059)		111					B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	Frame_Shift_Ins	INS	ENST00000359333.3	37	c.333_334insC	CCDS5878.1																																																																																				0.574	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327145.1	NM_153345		8	334						8	334	---	---	---	---
ZNF398	57541	broad.mit.edu	37	7	148876152	148876153	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:148876152_148876153insC	ENST00000475153.1	+	6	1455_1456	c.1188_1189insC	c.(1189-1191)cccfs	p.P397fs	ZNF398_ENST00000540950.1_Frame_Shift_Ins_p.P402fs|ZNF398_ENST00000491174.1_Frame_Shift_Ins_p.P226fs|ZNF398_ENST00000420008.2_Frame_Shift_Ins_p.P226fs|ZNF398_ENST00000426851.2_Frame_Shift_Ins_p.P226fs|ZNF398_ENST00000335901.4_Frame_Shift_Ins_p.P226fs|ZNF398_ENST00000483892.1_Frame_Shift_Ins_p.P226fs			Q8TD17	ZN398_HUMAN	zinc finger protein 398	397					positive regulation of transcription, DNA-templated (GO:0045893)|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(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CCAGCGAGACACCCCCCACCTG	0.589																																						ENST00000420008.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(673-678)acccccfs		zinc finger protein 398																																				SO:0001589	frameshift_variant	57541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148876152_148876153insC	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1194dupC	7.37:g.148876158_148876158dupC	ENSP00000420418:p.Pro397fs					ZNF398_ENST00000426851.2_Frame_Shift_Ins_p.TP225fs|ZNF398_ENST00000491174.1_Frame_Shift_Ins_p.TP225fs|ZNF398_ENST00000475153.1_Frame_Shift_Ins_p.TP396fs|ZNF398_ENST00000540950.1_Frame_Shift_Ins_p.TP401fs|ZNF398_ENST00000483892.1_Frame_Shift_Ins_p.TP225fs|ZNF398_ENST00000335901.4_Frame_Shift_Ins_p.TP225fs	p.TP225fs	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		6	1463_1464	+	Melanoma(164;0.15)		396					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Frame_Shift_Ins	INS	ENST00000475153.1	37	c.675_676insC	CCDS5894.1																																																																																				0.589	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			17	830						17	830	---	---	---	---
AGAP3	116988	broad.mit.edu	37	7	150814456	150814457	+	Splice_Site	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:150814456_150814457insG	ENST00000463381.1	+	4	290		c.e4-1		AGAP3_ENST00000473312.1_Splice_Site|AGAP3_ENST00000335367.3_Splice_Site|AGAP3_ENST00000479901.1_Splice_Site|AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000397238.2_Splice_Site	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3						cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCTCTGTCCTAGGGGGGCGGTT	0.579																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.e4-1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3																																				SO:0001630	splice_region_variant	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150814456_150814457insG	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.-206-1->G	7.37:g.150814462_150814462dupG						AGAP3_ENST00000463381.1_Splice_Site|AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000479901.1_Splice_Site|AGAP3_ENST00000335367.3_Splice_Site|AGAP3_ENST00000473312.1_Splice_Site		NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			4	478	+								B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Splice_Site	INS	ENST00000463381.1	37																																																																																						0.579	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946	Intron	8	280						8	280	---	---	---	---
XKR6	286046	broad.mit.edu	37	8	10755815	10755816	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:10755815_10755816insG	ENST00000416569.2	-	3	1598_1599	c.1572_1573insC	c.(1570-1575)cccgatfs	p.D525fs	XKR6_ENST00000304437.2_Frame_Shift_Ins_p.D246fs	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	525						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGCTCAACATCGGGGGGCAAAG	0.609																																						ENST00000416569.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31						c.(1570-1575)ccatgtfs		XK, Kell blood group complex subunit-related family, member 6																																				SO:0001589	frameshift_variant	286046					integral to membrane		g.chr8:10755815_10755816insG	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1573dupC	8.37:g.10755821_10755821dupG	ENSP00000416707:p.Asp525fs					XKR6_ENST00000304437.2_Frame_Shift_Ins_p.C246fs	p.C525fs	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1598_1599	-			525					Q8TBA0	Frame_Shift_Ins	INS	ENST00000416569.2	37	c.1572_1573insC	CCDS5978.2																																																																																				0.609	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		8	270						8	270	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:18413784_18413785insG	ENST00000327040.8	-	15	2964_2965	c.2862_2863insC	c.(2860-2865)cccgacfs	p.D955fs	PSD3_ENST00000286485.8_Frame_Shift_Ins_p.D421fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.D890fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.D284fs|PSD3_ENST00000440756.2_Frame_Shift_Ins_p.D957fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.48																																						ENST00000440756.2																			2	Substitution - Missense(2)	p.D421Y(1)|p.D957Y(1)	kidney(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2866-2871)ccacaafs		pleckstrin and Sec7 domain containing 3																																				SO:0001589	frameshift_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18413784_18413785insG	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2863dupC	8.37:g.18413790_18413790dupG	ENSP00000324127:p.Asp955fs					PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs	p.Q957fs			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	15	2970_2971	-			956					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Frame_Shift_Ins	INS	ENST00000327040.8	37	c.2868_2869insC	CCDS43720.1																																																																																				0.480	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		8	451						8	451	---	---	---	---
SLC18A1	6570	broad.mit.edu	37	8	20004787	20004788	+	Frame_Shift_Ins	INS	-	-	G	rs539049307	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:20004787_20004788insG	ENST00000276373.5	-	15	1711_1712	c.1445_1446insC	c.(1444-1446)ccgfs	p.P482fs	SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.P450fs|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.P450fs|SLC18A1_ENST00000440926.1_Frame_Shift_Ins_p.P482fs	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_ENST00000265808.7_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000276373.5_Frame_Shift_Ins_p.R482fs|SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000437980.1_Intron	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			11	448						11	448	---	---	---	---
DMTN	2039	broad.mit.edu	37	8	21926551	21926552	+	Frame_Shift_Ins	INS	-	-	C	rs377647942		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:21926551_21926552insC	ENST00000523266.1	+	5	736_737	c.274_275insC	c.(274-276)tccfs	p.S92fs	DMTN_ENST00000381470.3_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000265800.5_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000523782.2_Frame_Shift_Ins_p.S67fs|DMTN_ENST00000415253.1_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000519907.1_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000358242.3_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000432128.1_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000443491.2_Frame_Shift_Ins_p.S67fs	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_ENST00000443491.2_Frame_Shift_Ins_p.P67fs|DMTN_ENST00000432128.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000523782.2_Frame_Shift_Ins_p.P67fs|DMTN_ENST00000265800.5_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000415253.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000519907.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000523266.1_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		9	295						9	295	---	---	---	---
FBXO16	157574	broad.mit.edu	37	8	28340937	28340938	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:28340937_28340938insT	ENST00000380254.2	-	2	174_175	c.26_27insA	c.(25-27)aacfs	p.N9fs	FBXO16_ENST00000519471.2_Frame_Shift_Ins_p.N9fs|FBXO16_ENST00000346498.2_Frame_Shift_Ins_p.N9fs|FBXO16_ENST00000518734.1_Frame_Shift_Ins_p.N9fs|FBXO16_ENST00000517436.1_Intron	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	9										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		GACCATCTGTGTTTTTTGGAGG	0.396																																						ENST00000380254.2																			0				large_intestine(2)|ovary(1)	3						c.(25-27)aacfs		F-box protein 16																																				SO:0001589	frameshift_variant	157574							g.chr8:28340937_28340938insT	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"""F-boxes /  ""other"""""	13618	protein-coding gene	gene with protein product		608519	"""F-box only protein 16"""			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.27dupA	8.37:g.28340943_28340943dupT	ENSP00000369604:p.Asn9fs					FBXO16_ENST00000346498.2_Frame_Shift_Ins_p.N9fs|FBXO16_ENST00000517436.1_Intron|FBXO16_ENST00000519471.2_Frame_Shift_Ins_p.N9fs|FBXO16_ENST00000518734.1_Frame_Shift_Ins_p.N9fs	p.N9fs	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)	2	174_175	-		Ovarian(32;2.06e-05)	9					Q3T1B2|Q3T1B3|Q3T1B4	Frame_Shift_Ins	INS	ENST00000380254.2	37	c.26_27insA	CCDS6068.1																																																																																				0.396	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		11	1171						11	1171	---	---	---	---
INTS9	55756	broad.mit.edu	37	8	28633353	28633354	+	Frame_Shift_Ins	INS	-	-	G	rs148560235		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:28633353_28633354insG	ENST00000521022.1	-	14	1566_1567	c.1485_1486insC	c.(1483-1488)cccgccfs	p.A496fs	INTS9_ENST00000416984.2_Frame_Shift_Ins_p.A475fs|INTS9_ENST00000521777.1_Frame_Shift_Ins_p.A472fs|INTS9_ENST00000521070.1_5'Flank|INTS9_ENST00000397363.4_Frame_Shift_Ins_p.A390fs	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	496					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		TAGGACATGGCGGGGGGCTGGC	0.619																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(1420-1425)ccccatfs		integrator complex subunit 9																																				SO:0001589	frameshift_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28633353_28633354insG	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1486dupC	8.37:g.28633359_28633359dupG	ENSP00000429065:p.Ala496fs					INTS9_ENST00000397363.4_Frame_Shift_Ins_p.H390fs|INTS9_ENST00000521777.1_Frame_Shift_Ins_p.H472fs|INTS9_ENST00000521022.1_Frame_Shift_Ins_p.H496fs	p.H475fs	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	13	1781_1782	-		Ovarian(32;0.0439)	496					B7Z560|B7Z6M5|O00224|Q8TB16	Frame_Shift_Ins	INS	ENST00000521022.1	37	c.1422_1423insC	CCDS34873.1																																																																																				0.619	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		9	363						9	363	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30695260	30695261	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:30695260_30695261insT	ENST00000256246.2	-	3	7464_7465	c.7390_7391insA	c.(7390-7392)agtfs	p.S2464fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2464					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCCATGTACACTTTTTTGGTCA	0.361																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7390-7392)tgtfs		testis expressed 15																																				SO:0001589	frameshift_variant	56154							g.chr8:30695260_30695261insT	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7391dupA	8.37:g.30695266_30695266dupT	ENSP00000256246:p.Ser2464fs						p.C2464fs	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7464_7465	-			2464						Frame_Shift_Ins	INS	ENST00000256246.2	37	c.7390_7391insA	CCDS6080.1																																																																																				0.361	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			11	860						11	860	---	---	---	---
GOT1L1	137362	broad.mit.edu	37	8	37793280	37793281	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:37793280_37793281insG	ENST00000307599.4	-	7	969_970	c.870_871insC	c.(868-873)cccaacfs	p.N291fs	GOT1L1_ENST00000518826.1_Frame_Shift_Ins_p.N32fs	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	291					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GCACCCGTGTTGGGGGGGTTTA	0.609																																						ENST00000307599.4																			0				central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(868-873)ccacacfs		glutamic-oxaloacetic transaminase 1-like 1																																				SO:0001589	frameshift_variant	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37793280_37793281insG	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.871dupC	8.37:g.37793287_37793287dupG	ENSP00000303077:p.Asn291fs					GOT1L1_ENST00000518826.1_Frame_Shift_Ins_p.H32fs	p.H291fs	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		7	969_970	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	291					A8MWL4	Frame_Shift_Ins	INS	ENST00000307599.4	37	c.870_871insC	CCDS47839.1																																																																																				0.609	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		13	250						13	250	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43211888	43211889	+	RNA	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:43211888_43211889insC	ENST00000522175.2	+	0	1224							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCACCTTGTTTCCCCCCGATGC	0.381																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A																																						340441							g.chr8:43211888_43211889insC	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43211894_43211894dupC										Q6S8J7	POTEA_HUMAN			0	1224	+								A6ND17|A6ND71|Q6S8J6	RNA	INS	ENST00000522175.2	37																																																																																						0.381	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		8	117						8	117	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52359602	52359603	+	Frame_Shift_Ins	INS	-	-	C	rs199588192		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:52359602_52359603insC	ENST00000356297.4	-	12	1586_1587	c.1486_1487insG	c.(1486-1488)gtgfs	p.V496fs	PXDNL_ENST00000543296.1_Frame_Shift_Ins_p.V496fs	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	496	Ig-like C2-type 3.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACCTTTTTCACCCCCAACGAA	0.45																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(1486-1488)gaafs		peroxidasin homolog (Drosophila)-like																																				SO:0001589	frameshift_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52359602_52359603insC		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1487dupG	8.37:g.52359607_52359607dupC	ENSP00000348645:p.Val496fs					PXDNL_ENST00000543296.1_Frame_Shift_Ins_p.E496fs	p.E496fs	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			12	1586_1587	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	496			Ig-like C2-type 3.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Frame_Shift_Ins	INS	ENST00000356297.4	37	c.1486_1487insG	CCDS47855.1																																																																																				0.450	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		8	931						8	931	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77617546	77617547	+	Frame_Shift_Ins	INS	-	-	G	rs13252403|rs13250763		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:77617546_77617547insG	ENST00000521891.2	+	2	1671_1672	c.1223_1224insG	c.(1222-1227)ctggggfs	p.LG408fs	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Frame_Shift_Ins_p.LG408fs|ZFHX4_ENST00000518282.1_Frame_Shift_Ins_p.LG408fs|ZFHX4_ENST00000455469.2_Frame_Shift_Ins_p.LG408fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAGTGAATCTGGGGGGGCTGT	0.535										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(1222-1224)cggfs		zinc finger homeobox 4																																				SO:0001589	frameshift_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617546_77617547insG		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1230dupG	8.37:g.77617553_77617553dupG	ENSP00000430497:p.Leu408fs	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Frame_Shift_Ins_p.R408fs|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Frame_Shift_Ins_p.R408fs|ZFHX4_ENST00000518282.1_Frame_Shift_Ins_p.R408fs	p.R408fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1671_1672	+			408					G3V138|Q18PS0|Q6ZN20	Frame_Shift_Ins	INS	ENST00000521891.2	37	c.1223_1224insG	CCDS47878.2																																																																																				0.535	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		17	187						17	187	---	---	---	---
MIR1208	100302281	broad.mit.edu	37	8	129162432	129162433	+	RNA	INS	-	-	G	rs2648841	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:129162432_129162433insG	ENST00000408334.1	+	0	71_72					NR_031613.1				microRNA 1208																		ACCACTGTGGTGGGGGGGAGTG	0.564																																						ENST00000408334.1																			0																																																			100302281							g.chr8:129162432_129162433insG			8q24.21	2011-09-12		2008-12-18	ENSG00000221261	ENSG00000221261		"""ncRNAs / Micro RNAs"""	35274	non-coding RNA	RNA, micro				MIRN1208			Standard	NR_031613		Approved	hsa-mir-1208	uc022bbk.1				8.37:g.129162439_129162439dupG								NR_031613.1						0	71_72	+									RNA	INS	ENST00000408334.1	37																																																																																						0.564	MIR1208-201	KNOWN	basic	miRNA	miRNA		NR_031613		13	258						13	258	---	---	---	---
ASAP1	50807	broad.mit.edu	37	8	131073124	131073125	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:131073124_131073125insG	ENST00000518721.1	-	28	3119_3120	c.2892_2893insC	c.(2890-2895)cccaaafs	p.K965fs	ASAP1_ENST00000357668.1_Frame_Shift_Ins_p.K965fs	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	965	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGCTGTGGTTTGGGGGGCAGTT	0.599																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2890-2895)ccaaccfs		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1																																				SO:0001589	frameshift_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131073124_131073125insG	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2893dupC	8.37:g.131073130_131073130dupG	ENSP00000429900:p.Lys965fs					ASAP1_ENST00000518721.1_Frame_Shift_Ins_p.T965fs	p.T965fs			Q9ULH1	ASAP1_HUMAN			27	2919_2920	-			965			Pro-rich.		B2RNV3	Frame_Shift_Ins	INS	ENST00000518721.1	37	c.2892_2893insC	CCDS6362.1																																																																																				0.599	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		9	484						9	484	---	---	---	---
MROH5	389690	broad.mit.edu	37	8	142477454	142477463	+	RNA	DEL	CCTGGCCCTT	CCTGGCCCTT	-	rs139022001		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		7	10						7	10	---	---	---	---
TEK	7010	broad.mit.edu	37	9	27204925	27204926	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:27204925_27204926insG	ENST00000380036.4	+	14	2668_2669	c.2226_2227insG	c.(2227-2229)gggfs	p.G743fs	TEK_ENST00000406359.4_Frame_Shift_Ins_p.G700fs|TEK_ENST00000519097.1_Frame_Shift_Ins_p.G596fs	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	743					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CGGACCTCGGAGGGGGGAAGAT	0.51																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2224-2229)ggggggfs		TEK tyrosine kinase, endothelial																																				SO:0001589	frameshift_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27204925_27204926insG	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2232dupG	9.37:g.27204931_27204931dupG	ENSP00000369375:p.Gly743fs					TEK_ENST00000519097.1_Frame_Shift_Ins_p.GG595fs|TEK_ENST00000406359.4_Frame_Shift_Ins_p.GG699fs	p.GG742fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	14	2668_2669	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	742					A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Frame_Shift_Ins	INS	ENST00000380036.4	37	c.2226_2227insG	CCDS6519.1																																																																																				0.510	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			7	501						7	501	---	---	---	---
TLE1	7088	broad.mit.edu	37	9	84208131	84208132	+	Frame_Shift_Ins	INS	-	-	G	rs373201668		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:84208131_84208132insG	ENST00000376499.3	-	15	2453_2454	c.1389_1390insC	c.(1387-1392)cccgacfs	p.D464fs		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	464				DA -> TP (in Ref. 1; AAA61192). {ECO:0000305}.	multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ATGAGGGCGTCGGGGGGAAAAG	0.564																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1387-1392)ccacgcfs		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)																																				SO:0001589	frameshift_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84208131_84208132insG		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1390dupC	9.37:g.84208137_84208137dupG	ENSP00000365682:p.Asp464fs						p.R464fs	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			15	2453_2454	-			464	DA -> TP (in Ref. 1; AAA61192).				A8K495|Q5T3G4|Q969V9	Frame_Shift_Ins	INS	ENST00000376499.3	37	c.1389_1390insC	CCDS6661.1																																																																																				0.564	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		8	166						8	166	---	---	---	---
ANKRD19P	138649	broad.mit.edu	37	9	95649123	95649124	+	RNA	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:95649123_95649124insC	ENST00000446878.1	+	0	1719				ANKRD19P_ENST00000473204.1_RNA																							GCAATCTAGCACCCCCCAAAAG	0.54																																						ENST00000473204.1																			0																																																			138649							g.chr9:95649123_95649124insC																													9.37:g.95649129_95649129dupC														0	2259	+									RNA	INS	ENST00000446878.1	37																																																																																						0.540	RP11-526D8.7-006	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000316907.1			14	287						14	287	---	---	---	---
CCDC180	100499483	broad.mit.edu	37	9	100082417	100082418	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:100082417_100082418insC	ENST00000357054.1	+	25	2573_2574	c.1638_1639insC	c.(1639-1641)cccfs	p.P547fs	CCDC180_ENST00000375202.2_Frame_Shift_Ins_p.P408fs|CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.P408fs|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.P405fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.P507fs			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	547						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GTGACCTCCTGCCCCCCAGTTA	0.505																																						ENST00000375202.2																			0											c.(1219-1224)ctccccfs		coiled-coil domain containing 180																																				SO:0001589	frameshift_variant	100499483							g.chr9:100082417_100082418insC	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1644dupC	9.37:g.100082423_100082423dupC	ENSP00000349562:p.Pro547fs					CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.LP407fs|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.LP506fs|CCDC180_ENST00000357054.1_Frame_Shift_Ins_p.LP546fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.LP404fs	p.LP407fs							25	2573_2574	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Frame_Shift_Ins	INS	ENST00000357054.1	37	c.1221_1222insC																																																																																					0.505	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		8	590						8	590	---	---	---	---
CORO2A	7464	broad.mit.edu	37	9	100888849	100888850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:100888849_100888850insG	ENST00000343933.5	-	11	1684_1685	c.1427_1428insC	c.(1426-1428)ccafs	p.P476fs	CORO2A_ENST00000375077.4_Frame_Shift_Ins_p.P476fs	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	476					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CTGTCTTTGGTGGGGGGCATTC	0.559																																						ENST00000343933.5																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26						c.(1426-1428)cccfs		coronin, actin binding protein, 2A																																				SO:0001589	frameshift_variant	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100888849_100888850insG	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.1428dupC	9.37:g.100888855_100888855dupG	ENSP00000343746:p.Pro476fs					CORO2A_ENST00000375077.4_Frame_Shift_Ins_p.P476fs	p.P476fs	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN			11	1684_1685	-		Acute lymphoblastic leukemia(62;0.0559)	476					Q5TBR5|Q92829|Q9BWS5	Frame_Shift_Ins	INS	ENST00000343933.5	37	c.1427_1428insC	CCDS6735.1																																																																																				0.559	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		8	555						8	555	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)gccfs	p.A678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(2032-2034)cccfs		pregnancy-associated plasma protein A, pappalysin 1																																				SO:0001589	frameshift_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118982329_118982330insC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2038dupC	9.37:g.118982335_118982335dupC	ENSP00000330658:p.Ala678fs					PAPPA_ENST00000534838.1_Intron	p.P678fs	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			5	2401_2402	+			678					B1AMF9|Q08371|Q68G52|Q9UDK7	Frame_Shift_Ins	INS	ENST00000328252.3	37	c.2032_2033insC	CCDS6813.1																																																																																				0.574	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		31	1217						31	1217	---	---	---	---
SPTAN1	6709	broad.mit.edu	37	9	131370516	131370517	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:131370516_131370517insA	ENST00000372731.4	+	34	4562_4563	c.4452_4453insA	c.(4453-4455)aaafs	p.K1485fs	SPTAN1_ENST00000372739.3_Frame_Shift_Ins_p.K1485fs|SPTAN1_ENST00000358161.5_Frame_Shift_Ins_p.K1485fs	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1485					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGGCTCTGATCAAAAAACATGA	0.495																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000358161.5																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(4450-4455)ataaaafs		spectrin, alpha, non-erythrocytic 1																																				SO:0001589	frameshift_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131370516_131370517insA	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4458dupA	9.37:g.131370522_131370522dupA	ENSP00000361816:p.Lys1485fs					SPTAN1_ENST00000372731.4_Frame_Shift_Ins_p.IK1484fs|SPTAN1_ENST00000372739.3_Frame_Shift_Ins_p.IK1484fs	p.IK1484fs			Q13813	SPTA2_HUMAN			34	4565_4566	+			1484					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Frame_Shift_Ins	INS	ENST00000372731.4	37	c.4452_4453insA	CCDS6905.1																																																																																				0.495	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		7	851						7	851	---	---	---	---
CEL	1056	broad.mit.edu	37	9	135941981	135941982	+	Frame_Shift_Ins	INS	-	-	G	rs562193996|rs370279406		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:135941981_135941982insG	ENST00000372080.4	+	5	628_629	c.612_613insG	c.(613-615)gggfs	p.G205fs	CEL_ENST00000351304.7_Frame_Shift_Ins_p.G202fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	202					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TCGCGGCCTTCGGGGGGGACCC	0.639																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(610-615)ttggggfs		carboxyl ester lipase																																				SO:0001589	frameshift_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135941981_135941982insG	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.619dupG	9.37:g.135941988_135941988dupG	ENSP00000361151:p.Gly205fs					CEL_ENST00000351304.7_Frame_Shift_Ins_p.LG201fs	p.LG204fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	5	628_629	+			201					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Ins	INS	ENST00000372080.4	37	c.612_613insG	CCDS43896.1																																																																																				0.639	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			8	303						8	303	---	---	---	---
TUBAL3	79861	broad.mit.edu	37	10	5442908	5442909	+	Frame_Shift_Ins	INS	-	-	T	rs34911632		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:5442908_5442909insT	ENST00000380419.3	-	2	182_183	c.145_146insA	c.(145-147)atgfs	p.M49fs	TUBAL3_ENST00000479328.1_Frame_Shift_Ins_p.M9fs	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	49					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TGTGTGCTCCATTTTTGCATTT	0.48																																						ENST00000380419.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						c.(145-147)ggafs		tubulin, alpha-like 3																																				SO:0001589	frameshift_variant	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5442908_5442909insT	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.146dupA	10.37:g.5442913_5442913dupT	ENSP00000369784:p.Met49fs					TUBAL3_ENST00000479328.1_Frame_Shift_Ins_p.G9fs	p.G49fs	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN			2	182_183	-			49					B4DKL2|Q4QQJ5|Q9H6Z0	Frame_Shift_Ins	INS	ENST00000380419.3	37	c.145_146insA	CCDS7066.2																																																																																				0.480	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		9	1818						9	1818	---	---	---	---
TAF3	83860	broad.mit.edu	37	10	8006928	8006929	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:8006928_8006929insC	ENST00000344293.5	+	3	1661_1662	c.1455_1456insC	c.(1456-1458)cccfs	p.P486fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	486					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCAAATATGCCCCCCAACTT	0.49																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(1453-1458)atccccfs		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa																																				SO:0001589	frameshift_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006928_8006929insC	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1461dupC	10.37:g.8006934_8006934dupC	ENSP00000340271:p.Pro486fs						p.IP485fs	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			3	1661_1662	+			485					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Frame_Shift_Ins	INS	ENST00000344293.5	37	c.1455_1456insC	CCDS41487.1																																																																																				0.490	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		7	176						7	176	---	---	---	---
NUDT5	11164	broad.mit.edu	37	10	12219814	12219815	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:12219814_12219815insC	ENST00000491614.1	-	5	661_662	c.266_267insG	c.(265-267)ggcfs	p.G89fs	NUDT5_ENST00000378940.3_Frame_Shift_Ins_p.G89fs|NUDT5_ENST00000378937.3_Frame_Shift_Ins_p.G102fs|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378927.3_Frame_Shift_Ins_p.G89fs|NUDT5_ENST00000537776.1_Frame_Shift_Ins_p.G89fs			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	89	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				CTATGCAGTAGCCCCCCATTGG	0.52																																						ENST00000491614.1																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(265-267)gtafs		nudix (nucleoside diphosphate linked moiety X)-type motif 5																																				SO:0001589	frameshift_variant	11164				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding	g.chr10:12219814_12219815insC	AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"""Nudix motif containing"""	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.267dupG	10.37:g.12219820_12219820dupC	ENSP00000419628:p.Gly89fs					NUDT5_ENST00000378940.3_Frame_Shift_Ins_p.V89fs|NUDT5_ENST00000537776.1_Frame_Shift_Ins_p.V89fs|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Frame_Shift_Ins_p.V102fs|NUDT5_ENST00000378927.3_Frame_Shift_Ins_p.V89fs	p.V89fs			Q9UKK9	NUDT5_HUMAN			5	661_662	-		Renal(717;0.228)	89			Nudix hydrolase.		A8K516|Q6IAG0|Q9UH49	Frame_Shift_Ins	INS	ENST00000491614.1	37	c.266_267insG	CCDS7089.1																																																																																				0.520	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			9	1435						9	1435	---	---	---	---
FRMD4A	55691	broad.mit.edu	37	10	13696451	13696452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:13696451_13696452insG	ENST00000357447.2	-	23	3382_3383	c.3014_3015insC	c.(3013-3015)ccafs	p.P1005fs	FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.P990fs|FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.P1005fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1005	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGGC	0.535																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(3013-3015)cagfs		FERM domain containing 4A																																				SO:0001589	frameshift_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13696451_13696452insG	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.3015dupC	10.37:g.13696458_13696458dupG	ENSP00000350032:p.Pro1005fs					FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.Q1005fs|FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.Q990fs	p.Q1005fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			23	3382_3383	-			1005			Ser-rich.		A7E2Y3|Q5T377	Frame_Shift_Ins	INS	ENST00000357447.2	37	c.3014_3015insC	CCDS7101.1																																																																																				0.535	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		12	322						12	322	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25887424	25887425	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:25887424_25887425insC	ENST00000376351.3	+	11	3228_3229	c.2869_2870insC	c.(2869-2871)gccfs	p.A957fs	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	957					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TAAAGATCCTGCCCCCCAAAAC	0.446																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2869-2871)cccfs		G protein-coupled receptor 158																																				SO:0001589	frameshift_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887424_25887425insC	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2875dupC	10.37:g.25887430_25887430dupC	ENSP00000365529:p.Ala957fs					GPR158_ENST00000490549.1_3'UTR	p.P957fs	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	3228_3229	+			957					Q6QR81|Q9ULT3	Frame_Shift_Ins	INS	ENST00000376351.3	37	c.2869_2870insC	CCDS31166.1																																																																																				0.446	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		7	179						7	179	---	---	---	---
PARD3	56288	broad.mit.edu	37	10	34400165	34400166	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:34400165_34400166insG	ENST00000374789.3	-	25	4327_4328	c.4002_4003insC	c.(4000-4005)ccctccfs	p.S1335fs	PARD3_ENST00000350537.4_Frame_Shift_Ins_p.S1289fs|PARD3_ENST00000545693.1_Frame_Shift_Ins_p.S1319fs|PARD3_ENST00000374790.3_Frame_Shift_Ins_p.S1275fs|PARD3_ENST00000346874.4_Frame_Shift_Ins_p.S1298fs|PARD3_ENST00000374788.3_Frame_Shift_Ins_p.S1332fs|PARD3_ENST00000374794.3_Frame_Shift_Ins_p.S1223fs|PARD3_ENST00000545260.1_Frame_Shift_Ins_p.S1245fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1335					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGAGAAGGGGAGGGGGGCACAT	0.579																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(4000-4005)ccccccfs		par-3 family cell polarity regulator			,,,,,,,	3,4261		0,3,2129					,,,,,,,	6.2	0.8			48	0,8254		0,0,4127	no	frameshift,frameshift,frameshift,frameshift,frameshift,frameshift,frameshift,frameshift	PARD3	NM_019619.3,NM_001184791.1,NM_001184790.1,NM_001184789.1,NM_001184788.1,NM_001184787.1,NM_001184786.1,NM_001184785.1	,,,,,,,	0,3,6256	A1A1,A1R,RR		0.0,0.0704,0.024	,,,,,,,	,,,,,,,		3,12515				SO:0001589	frameshift_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34400165_34400166insG	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.4003dupC	10.37:g.34400171_34400171dupG	ENSP00000363921:p.Ser1335fs					PARD3_ENST00000374790.3_Frame_Shift_Ins_p.PP1274fs|PARD3_ENST00000545693.1_Frame_Shift_Ins_p.PP1318fs|PARD3_ENST00000346874.4_Frame_Shift_Ins_p.PP1297fs|PARD3_ENST00000374794.3_Frame_Shift_Ins_p.PP1222fs|PARD3_ENST00000545260.1_Frame_Shift_Ins_p.PP1244fs|PARD3_ENST00000350537.4_Frame_Shift_Ins_p.PP1288fs|PARD3_ENST00000374788.3_Frame_Shift_Ins_p.PP1331fs	p.PP1334fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			25	4327_4328	-		Breast(68;0.0707)	1334					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Frame_Shift_Ins	INS	ENST00000374789.3	37	c.4002_4003insC	CCDS7178.1																																																																																				0.579	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		7	559						7	559	---	---	---	---
FAM21EP	100421577	broad.mit.edu	37	10	51821327	51821328	+	RNA	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:51821327_51821328insG	ENST00000456967.1	-	0	1306_1307					NR_038275.1																						TCGGTCAGCTTGGGGGGTGCGA	0.52																																						ENST00000456967.1																			0																																																			100421577							g.chr10:51821327_51821328insG																													10.37:g.51821333_51821333dupG								NR_038275.1						0	1306_1307	-									RNA	INS	ENST00000456967.1	37																																																																																						0.520	RP11-324H6.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000048059.1			8	370						8	370	---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85972096	85972097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:85972096_85972097insC	ENST00000372117.3	+	15	1818_1819	c.1715_1716insC	c.(1714-1719)caccccfs	p.HP572fs	CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.HP276fs|CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.HP572fs	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	572	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GTCAATGACCACCCCCCTCAGT	0.51																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1714-1716)cccfs		cadherin-related family member 1																																				SO:0001589	frameshift_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972096_85972097insC	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1721dupC	10.37:g.85972102_85972102dupC	ENSP00000361189:p.His572fs					CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.P572fs|CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.P276fs	p.P572fs	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			15	1818_1819	+			572			Cadherin 5.		Q69YZ8|Q8IXY5	Frame_Shift_Ins	INS	ENST00000372117.3	37	c.1715_1716insC	CCDS7372.1																																																																																				0.510	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		8	655						8	655	---	---	---	---
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G	rs372919677		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:102265153_102265154insG	ENST00000370345.3	-	10	1240_1241	c.1143_1144insC	c.(1141-1146)cccaaafs	p.K382fs	SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.K382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	382					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTAATCCATTTGGGGGGTTTTT	0.49																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(1141-1146)ccaatgfs		SEC31 homolog B (S. cerevisiae)																																				SO:0001589	frameshift_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102265153_102265154insG	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1144dupC	10.37:g.102265159_102265159dupG	ENSP00000359370:p.Lys382fs					SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs	p.M382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	10	1240_1241	-		Colorectal(252;0.117)	382					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Frame_Shift_Ins	INS	ENST00000370345.3	37	c.1143_1144insC	CCDS7495.1																																																																																				0.490	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		15	1920						15	1920	---	---	---	---
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1774-1776)cccfs	p.P592fs	BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.P551fs|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.P556fs	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_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs	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		16	328						16	328	---	---	---	---
PSD	5662	broad.mit.edu	37	10	104176573	104176574	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:104176573_104176574insG	ENST00000020673.5	-	2	748_749	c.222_223insC	c.(220-225)ccctcafs	p.S75fs	PSD_ENST00000406432.1_Frame_Shift_Ins_p.S75fs|PSD_ENST00000492902.2_5'UTR|FBXL15_ENST00000224862.3_5'Flank	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	75	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)	p.S75fs*127(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ACACGGGGTGAGGGGGGGCCAC	0.668																																						ENST00000020673.5																			1	Insertion - Frameshift(1)	p.S75fs*127(1)	ovary(1)	breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(220-225)cccaccfs		pleckstrin and Sec7 domain containing																																				SO:0001589	frameshift_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104176573_104176574insG	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.223dupC	10.37:g.104176580_104176580dupG	ENSP00000020673:p.Ser75fs					PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Frame_Shift_Ins_p.T75fs	p.T75fs	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	2	748_749	-			75			Pro-rich.		B1AKX7|D3DR87|Q15673|Q8IVG0	Frame_Shift_Ins	INS	ENST00000020673.5	37	c.222_223insC	CCDS31272.1																																																																																				0.668	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			7	64						7	64	---	---	---	---
CARS	833	broad.mit.edu	37	11	3023250	3023251	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:3023250_3023251insG	ENST00000397111.5	-	21	2306_2307	c.2061_2062insC	c.(2059-2064)cccagtfs	p.S688fs	CARS_ENST00000401769.3_Frame_Shift_Ins_p.S701fs|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_Frame_Shift_Ins_p.S688fs|CARS_ENST00000380525.4_Frame_Shift_Ins_p.S771fs|CARS_ENST00000397114.3_Frame_Shift_Ins_p.S678fs			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	688					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	AACATCTCACTGGGGGGAATCT	0.495			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	ENST00000397114.3				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31						c.(2029-2034)ccgtgafs		cysteinyl-tRNA synthetase	L-Cysteine(DB00151)																																			SO:0001589	frameshift_variant	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	g.chr11:3023250_3023251insG	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.2062dupC	11.37:g.3023256_3023256dupG	ENSP00000380300:p.Ser688fs					CARS_ENST00000397111.5_Frame_Shift_Ins_p.*688fs|CARS_ENST00000278224.9_Frame_Shift_Ins_p.*688fs|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000380525.4_Frame_Shift_Ins_p.*771fs|CARS_ENST00000401769.3_Frame_Shift_Ins_p.*701fs	p.*678fs			P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	22	2407_2408	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	688					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Frame_Shift_Ins	INS	ENST00000397111.5	37	c.2031_2032insC	CCDS7742.1																																																																																				0.495	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		18	786						18	786	---	---	---	---
TRIM21	6737	broad.mit.edu	37	11	4409705	4409705	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:4409705delT	ENST00000254436.7	-	4	672	c.560delA	c.(559-561)aacfs	p.N187fs	TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	187					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AACCAGGAAGTTTTTTTGCTG	0.483																																						ENST00000254436.7																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16						c.(559-561)acfs		tripartite motif containing 21							211.0	212.0	212.0					11																	4409705		1950	4174	6124	SO:0001589	frameshift_variant	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4409705delT	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.560delA	11.37:g.4409705delT	ENSP00000254436:p.Asn187fs					TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs	p.N187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	4	672	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	187					Q5XPV5|Q96RF8	Frame_Shift_Del	DEL	ENST00000254436.7	37	c.560delA	CCDS44525.1																																																																																				0.483	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		8	624						8	624	---	---	---	---
OR56B1	387748	broad.mit.edu	37	11	5758618	5758619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:5758618_5758619insC	ENST00000317121.3	+	1	938_939	c.872_873insC	c.(871-876)atccccfs	p.IP291fs	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CACAACATCATCCCCCCTTCCC	0.406																																						ENST00000317121.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(871-873)accfs		olfactory receptor, family 56, subfamily B, member 1																																				SO:0001589	frameshift_variant	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758618_5758619insC	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.878dupC	11.37:g.5758624_5758624dupC	ENSP00000322939:p.Ile291fs					TRIM5_ENST00000380027.1_Intron	p.T291fs	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	938_939	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	291					B2RNY6|B3KV42|Q6IF76	Frame_Shift_Ins	INS	ENST00000317121.3	37	c.872_873insC	CCDS31395.1																																																																																				0.406	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		7	1506						7	1506	---	---	---	---
CYB5R2	51700	broad.mit.edu	37	11	7689747	7689748	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:7689747_7689748insT	ENST00000533558.1	-	6	989_990	c.433_434insA	c.(433-435)acafs	p.T145fs	CYB5R2_ENST00000524790.1_Frame_Shift_Ins_p.T145fs|CYB5R2_ENST00000299498.6_Frame_Shift_Ins_p.T145fs|CYB5R2_ENST00000299497.9_Frame_Shift_Ins_p.T145fs|CYB5R2_ENST00000528585.1_5'UTR			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	145					oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATCGGCCAGTGTTTTTTTAGGC	0.52																																						ENST00000533558.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(433-435)actfs		cytochrome b5 reductase 2																																				SO:0001589	frameshift_variant	51700				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	g.chr11:7689747_7689748insT	AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.434dupA	11.37:g.7689754_7689754dupT	ENSP00000437041:p.Thr145fs					CYB5R2_ENST00000299497.9_Frame_Shift_Ins_p.T145fs|CYB5R2_ENST00000299498.6_Frame_Shift_Ins_p.T145fs|CYB5R2_ENST00000524790.1_Frame_Shift_Ins_p.T145fs|CYB5R2_ENST00000528585.1_5'UTR	p.T145fs			Q6BCY4	NB5R2_HUMAN		Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	6	989_990	-			145					Q9BVA3|Q9UF68|Q9UHJ0	Frame_Shift_Ins	INS	ENST00000533558.1	37	c.433_434insA	CCDS7780.1																																																																																				0.520	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229		10	1810						10	1810	---	---	---	---
SCUBE2	57758	broad.mit.edu	37	11	9048995	9048996	+	Frame_Shift_Ins	INS	-	-	G	rs374515295		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:9048995_9048996insG	ENST00000309263.3	-	19	2601_2602	c.2529_2530insC	c.(2527-2532)cccaagfs	p.K844fs	SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000520467.1_Frame_Shift_Ins_p.K816fs|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000457346.2_Frame_Shift_Ins_p.K873fs			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	844	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ATGCGGCGCTTGGGGGGTGGGT	0.569																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2614-2619)ccagcgfs		signal peptide, CUB domain, EGF-like 2			,	1,4263		0,1,2131					,	5.3	1.0			128	1,8253		0,1,4126	no	frameshift,intron	SCUBE2	NM_020974.2,NM_001170690.1	,	0,2,6257	A1A1,A1R,RR		0.0121,0.0235,0.016	,	,		2,12516				SO:0001589	frameshift_variant	57758					extracellular region	calcium ion binding	g.chr11:9048995_9048996insG	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.2530dupC	11.37:g.9049001_9049001dupG	ENSP00000310658:p.Lys844fs					SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000309263.3_Frame_Shift_Ins_p.A844fs|SCUBE2_ENST00000520467.1_Frame_Shift_Ins_p.A816fs|RP11-467K18.2_ENST00000531592.1_RNA	p.A873fs			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	20	2690_2691	-			844			CUB.		Q2NKQ8|Q6ZWI1	Frame_Shift_Ins	INS	ENST00000309263.3	37	c.2616_2617insC																																																																																					0.569	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		7	235						7	235	---	---	---	---
EIF4G2	1982	broad.mit.edu	37	11	10820934	10820935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:10820934_10820935insG	ENST00000526148.1	-	20	2871_2872	c.2361_2362insC	c.(2359-2364)cccagcfs	p.S788fs	EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.S788fs|EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.S788fs|SNORD97_ENST00000459187.1_RNA|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.S750fs	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.S788R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTTCATCGCTGGGGGGGTTTA	0.406																																						ENST00000526148.1																			1	Substitution - Missense(1)	p.S788R(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(2359-2364)ccgcgafs		eukaryotic translation initiation factor 4 gamma, 2																																				SO:0001589	frameshift_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10820934_10820935insG	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2362dupC	11.37:g.10820941_10820941dupG	ENSP00000433664:p.Ser788fs					EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs|EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs	p.R788fs	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	20	2871_2872	-			788			W2.			Frame_Shift_Ins	INS	ENST00000526148.1	37	c.2361_2362insC	CCDS31428.1																																																																																				0.406	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		8	97						8	97	---	---	---	---
HPS5	11234	broad.mit.edu	37	11	18303689	18303690	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:18303689_18303690insG	ENST00000349215.3	-	22	3413_3414	c.3136_3137insC	c.(3136-3138)cagfs	p.Q1046fs	HPS5_ENST00000438420.2_Frame_Shift_Ins_p.Q932fs|HPS5_ENST00000396253.3_Frame_Shift_Ins_p.Q932fs|HPS5_ENST00000537258.1_Frame_Shift_Ins_p.Q153fs|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1046					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TAGTGACTCCTGGGGGGCTGGC	0.554									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(2794-2796)ggafs		Hermansky-Pudlak syndrome 5																																				SO:0001589	frameshift_variant	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18303689_18303690insG	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.3137dupC	11.37:g.18303695_18303695dupG	ENSP00000265967:p.Gln1046fs					HPS5_ENST00000349215.3_Frame_Shift_Ins_p.G1046fs|HPS5_ENST00000537258.1_Frame_Shift_Ins_p.G153fs|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Frame_Shift_Ins_p.G932fs	p.G932fs	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			21	3256_3257	-			1046					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Frame_Shift_Ins	INS	ENST00000349215.3	37	c.2794_2795insC	CCDS7836.1																																																																																				0.554	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		11	793						11	793	---	---	---	---
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G	rs200015827		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:31812316_31812317insG	ENST00000379132.3	-	11	1404_1405	c.1124_1125insC	c.(1123-1125)ccafs	p.P375fs	PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000419022.1_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs			P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability; dbSNP:rs200015827). {ECO:0000269|PubMed:11309364}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													ENST00000419022.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	GRCh37	CM011452	PAX6	M		c.(1165-1167)ccafs		paired box 6																																				SO:0001589	frameshift_variant	5080	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31812316_31812317insG	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.1125dupC	11.37:g.31812323_31812323dupG	ENSP00000368427:p.Pro375fs					PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs	p.P389fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN			13	1634_1635	-	Lung SC(675;0.225)		375			Pro/Ser/Thr-rich.		Q6N006|Q99413	Frame_Shift_Ins	INS	ENST00000379132.3	37	c.1166_1167insC	CCDS31451.1																																																																																				0.589	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		7	148						7	148	---	---	---	---
GYLTL1B	120071	broad.mit.edu	37	11	45948372	45948373	+	Frame_Shift_Ins	INS	-	-	C	rs376236828		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:45948372_45948373insC	ENST00000531526.1	+	10	1386_1387	c.1275_1276insC	c.(1276-1278)cccfs	p.P426fs	GYLTL1B_ENST00000529052.1_Frame_Shift_Ins_p.P395fs|GYLTL1B_ENST00000401752.1_Frame_Shift_Ins_p.P426fs|GYLTL1B_ENST00000389968.3_Frame_Shift_Ins_p.P153fs|GYLTL1B_ENST00000536139.1_Frame_Shift_Ins_p.P395fs|GYLTL1B_ENST00000325468.5_Frame_Shift_Ins_p.P426fs	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	426					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.R428fs*68(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		ATGAACCGCCACCCCCCCGGCC	0.649																																						ENST00000531526.1																			1	Insertion - Frameshift(1)	p.R428fs*68(1)	lung(1)	breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1273-1278)ccccccfs		glycosyltransferase-like 1B				6,4258		0,6,2126						-8.6	0.0			47	11,8243		0,11,4116	no	frameshift	GYLTL1B	NM_152312.3		0,17,6242	A1A1,A1R,RR		0.1333,0.1407,0.1358				17,12501				SO:0001589	frameshift_variant	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45948372_45948373insC		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1282dupC	11.37:g.45948379_45948379dupC	ENSP00000432869:p.Pro426fs					GYLTL1B_ENST00000529052.1_Frame_Shift_Ins_p.PP394fs|GYLTL1B_ENST00000389968.3_Frame_Shift_Ins_p.PP152fs|GYLTL1B_ENST00000401752.1_Frame_Shift_Ins_p.PP425fs|GYLTL1B_ENST00000325468.5_Frame_Shift_Ins_p.PP425fs|GYLTL1B_ENST00000536139.1_Frame_Shift_Ins_p.PP394fs	p.PP425fs	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	10	1386_1387	+			425					A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Frame_Shift_Ins	INS	ENST00000531526.1	37	c.1275_1276insC	CCDS31473.1																																																																																				0.649	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		8	79						8	79	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46880747	46880748	+	Frame_Shift_Ins	INS	-	-	C	rs560166088		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:46880747_46880748insC	ENST00000378623.1	-	38	5746_5747	c.5504_5505insG	c.(5503-5505)ggcfs	p.G1835fs	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1835					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(5503-5505)gctfs		low density lipoprotein receptor-related protein 4																																				SO:0001589	frameshift_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46880747_46880748insC	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5505dupG	11.37:g.46880754_46880754dupC	ENSP00000367888:p.Gly1835fs					LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	p.A1835fs	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	38	5746_5747	-			1835					B2RN39|Q4AC85|Q5KTZ5	Frame_Shift_Ins	INS	ENST00000378623.1	37	c.5504_5505insG	CCDS31478.1																																																																																				0.564	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		15	245						15	245	---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(751-753)cccfs	p.P251fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.48																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(748-753)atccccfs		olfactory receptor, family 4, subfamily S, member 1																																				SO:0001589	frameshift_variant	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328524_48328525insC	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.756dupC	11.37:g.48328530_48328530dupC	ENSP00000321447:p.Pro251fs						p.IP250fs	NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN			1	750_751	+			250					Q6IFB4	Frame_Shift_Ins	INS	ENST00000319988.1	37	c.750_751insC	CCDS31488.1																																																																																				0.480	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		9	927						9	927	---	---	---	---
OR4C11	219429	broad.mit.edu	37	11	55371070	55371071	+	Frame_Shift_Ins	INS	-	-	G	rs201361433		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:55371070_55371071insG	ENST00000302231.4	-	1	803_804	c.779_780insC	c.(778-780)ccgfs	p.P260fs		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	260						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(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GGAAAGTGGTCGGGGGGCGTGT	0.436																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(778-780)cacfs		olfactory receptor, family 4, subfamily C, member 11																																				SO:0001589	frameshift_variant	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371070_55371071insG	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.780dupC	11.37:g.55371076_55371076dupG	ENSP00000306651:p.Pro260fs						p.H260fs	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	803_804	-			260					B9EIL4|Q8NGL8	Frame_Shift_Ins	INS	ENST00000302231.4	37	c.779_780insC	CCDS31503.1																																																																																				0.436	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		7	285						7	285	---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)cccaacfs	p.N220fs	SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.N233fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(655-660)ccactafs		solute carrier family 43, member 3																																				SO:0001589	frameshift_variant	29015				transmembrane transport	integral to membrane		g.chr11:57185234_57185235insG	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.658dupC	11.37:g.57185240_57185240dupG	ENSP00000378555:p.Asn220fs					SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs	p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			8	961_962	-			220					B4DNR8|E7EQD2|Q9NSS4	Frame_Shift_Ins	INS	ENST00000395123.2	37	c.657_658insC	CCDS7956.1																																																																																				0.564	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		8	263						8	263	---	---	---	---
ZDHHC5	25921	broad.mit.edu	37	11	57464257	57464258	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:57464257_57464258insC	ENST00000287169.3	+	10	2396_2397	c.1034_1035insC	c.(1033-1038)agccccfs	p.SP345fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.SP292fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	345					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCAAGGACAGCCCCCCGACAC	0.515																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1033-1035)accfs		zinc finger, DHHC-type containing 5																																				SO:0001589	frameshift_variant	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57464257_57464258insC	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1040dupC	11.37:g.57464263_57464263dupC	ENSP00000287169:p.Ser345fs					ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.T292fs	p.T345fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			10	2396_2397	+			345					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Frame_Shift_Ins	INS	ENST00000287169.3	37	c.1034_1035insC	CCDS7965.1																																																																																				0.515	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		7	398						7	398	---	---	---	---
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(385-387)cccfs	p.P129fs	TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.P91fs	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	129	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(382-387)aaccccfs		thioredoxin-related transmembrane protein 2																																				SO:0001589	frameshift_variant	51075				cell redox homeostasis	integral to membrane		g.chr11:57505845_57505846insC	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.391dupC	11.37:g.57505852_57505852dupC	ENSP00000278422:p.Pro129fs					TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs	p.NP128fs	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			4	396_397	+			128			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Frame_Shift_Ins	INS	ENST00000278422.4	37	c.384_385insC	CCDS7967.1																																																																																				0.421	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		13	588						13	588	---	---	---	---
PATL1	219988	broad.mit.edu	37	11	59425145	59425146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:59425145_59425146insG	ENST00000300146.9	-	5	562_563	c.478_479insC	c.(478-480)cagfs	p.Q160fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	160	Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.			Q -> H (in Ref. 2; BAG54601). {ECO:0000305}.	cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TTCTGGACCCTGGGGGGGCCTC	0.455																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(478-480)gggfs		protein associated with topoisomerase II homolog 1 (yeast)																																				SO:0001589	frameshift_variant	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59425145_59425146insG	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.479dupC	11.37:g.59425152_59425152dupG	ENSP00000300146:p.Gln160fs						p.G160fs	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN			5	562_563	-			160	Q -> H (in Ref. 2; BAG54601).		Pro-rich.|Region N; interaction with decapping machinery.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Frame_Shift_Ins	INS	ENST00000300146.9	37	c.478_479insC	CCDS44613.1																																																																																				0.455	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		7	301						7	301	---	---	---	---
MS4A15	219995	broad.mit.edu	37	11	60531345	60531346	+	Frame_Shift_Ins	INS	-	-	G	rs1032939	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:60531345_60531346insG	ENST00000405633.3	+	2	218_219	c.139_140insG	c.(139-141)ctgfs	p.L47fs	MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Frame_Shift_Ins_p.L47fs	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	47			L -> R (in dbSNP:rs1032939). {ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						GGAGCCACCGCTGGGGGCACAG	0.604																																						ENST00000405633.3																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(139-141)gggfs		membrane-spanning 4-domains, subfamily A, member 15																																				SO:0001589	frameshift_variant	219995					integral to membrane	receptor activity	g.chr11:60531345_60531346insG	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		Exception_encountered	11.37:g.60531345_60531346insG	ENSP00000386022:p.Leu47fs					MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Frame_Shift_Ins_p.G47fs	p.G47fs	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN			2	218_219	+			47		L -> R (in dbSNP:rs1032939).			A9UJY6|A9UJY7|F2Z2J5	Frame_Shift_Ins	INS	ENST00000405633.3	37	c.139_140insG	CCDS44617.1																																																																																				0.604	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			13	275						13	275	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)gccfs	p.A229fs	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AATGATGATGGCCCCCCCAAAG	0.49								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(685-687)catfs	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa																																				SO:0001589	frameshift_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61093159_61093160insC	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.686dupG	11.37:g.61093166_61093166dupC	ENSP00000301764:p.Ala229fs					DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	p.H229fs	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			6	1082_1083	-			229			Interaction with CDT1.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Frame_Shift_Ins	INS	ENST00000301764.7	37	c.685_686insG	CCDS31576.1																																																																																				0.490	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		7	76						7	76	---	---	---	---
SLC22A24	283238	broad.mit.edu	37	11	62902231	62902231	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:62902231delC	ENST00000417740.1	-	2	853	c.412delG	c.(412-414)gtafs	p.V138fs	SLC22A24_ENST00000326192.5_Frame_Shift_Del_p.V138fs	NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	138					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						GATTCACATACCAGGTCCCAC	0.423																																						ENST00000417740.1																			0				kidney(1)|stomach(1)	2						c.(412-414)tafs		solute carrier family 22, member 24							104.0	79.0	87.0					11																	62902231		692	1591	2283	SO:0001589	frameshift_variant	283238							g.chr11:62902231delC		CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"""Solute carriers"""	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.412delG	11.37:g.62902231delC	ENSP00000396586:p.Val138fs					SLC22A24_ENST00000326192.5_Frame_Shift_Del_p.V138fs	p.V138fs	NM_001136506.2	NP_001129978.2					2	853	-									Frame_Shift_Del	DEL	ENST00000417740.1	37	c.412delG																																																																																					0.423	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000383747.1	NM_173586		2	4						2	4	---	---	---	---
RASGRP2	10235	broad.mit.edu	37	11	64507637	64507638	+	Splice_Site	INS	-	-	G	rs376998176		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:64507637_64507638insG	ENST00000354024.3	-	6	624		c.e6-2		RASGRP2_ENST00000377497.3_Splice_Site|RASGRP2_ENST00000377494.1_Splice_Site|RASGRP2_ENST00000394432.3_Splice_Site	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)						blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGGTAGGGCTGGGGGGGCAGG	0.569																																						ENST00000377494.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e5-2		RAS guanyl releasing protein 2 (calcium and DAG-regulated)																																				SO:0001630	splice_region_variant	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64507637_64507638insG	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.372-2->C	11.37:g.64507644_64507644dupG						RASGRP2_ENST00000394432.3_Splice_Site|RASGRP2_ENST00000377497.3_Splice_Site|RASGRP2_ENST00000354024.3_Splice_Site				Q7LDG7	GRP2_HUMAN			5	1294	-								A6NDC7|O00538|Q9UL65	Splice_Site	INS	ENST00000354024.3	37		CCDS31598.1																																																																																				0.569	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819	Intron	25	510						25	510	---	---	---	---
RAB1B	81876	broad.mit.edu	37	11	66039887	66039888	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:66039887_66039888insG	ENST00000311481.6	+	4	382_383	c.235_236insG	c.(235-237)cggfs	p.R79fs	RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Intron	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	79	Switch 2 region; required for interaction with REP1/CHM.				ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CAGCTACTACCGGGGGGCTCAT	0.579																																						ENST00000311481.6																			0				large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						c.(235-237)gggfs		RAB1B, member RAS oncogene family																																				SO:0001589	frameshift_variant	81876				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding	g.chr11:66039887_66039888insG	AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.241dupG	11.37:g.66039893_66039893dupG	ENSP00000310226:p.Arg79fs					RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Intron	p.G79fs	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN			4	382_383	+			79			Switch 2 region; required for interaction with REP1/CHM.		A8K7S1	Frame_Shift_Ins	INS	ENST00000311481.6	37	c.235_236insG	CCDS31613.1																																																																																				0.579	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	NM_030981		7	322						7	322	---	---	---	---
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs202225573|rs142447712		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:66272154_66272155insC	ENST00000360510.2	+	17	2015_2016	c.1950_1951insC	c.(1951-1953)cccfs	p.P651fs	DPP3_ENST00000530165.1_Frame_Shift_Ins_p.P621fs|DPP3_ENST00000532677.1_Frame_Shift_Ins_p.P670fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.P671fs			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	651					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(2005-2010)gcccccfs		dipeptidyl-peptidase 3																																				SO:0001589	frameshift_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66272154_66272155insC	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1956dupC	11.37:g.66272160_66272160dupC	ENSP00000353701:p.Pro651fs					DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs	p.AP669fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			17	2408_2409	+			650					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Frame_Shift_Ins	INS	ENST00000360510.2	37	c.2007_2008insC	CCDS8141.1																																																																																				0.579	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			13	305						13	305	---	---	---	---
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:66366957_66366958insG	ENST00000533244.1	+	4	719_720	c.278_279insG	c.(277-282)ctggggfs	p.LG93fs	CCS_ENST00000310190.4_Frame_Shift_Ins_p.LG74fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	93	Superoxide dismutase-like.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GTGGCCATCCTGGGGGGGCCTG	0.644																																						ENST00000533244.1																			0				breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(277-279)cggfs		copper chaperone for superoxide dismutase																																				SO:0001589	frameshift_variant	9973				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding	g.chr11:66366957_66366958insG	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.285dupG	11.37:g.66366964_66366964dupG	ENSP00000436318:p.Leu93fs					CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs	p.R93fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN			4	719_720	+			93			Superoxide dismutase-like.		Q2M366|Q8NEV0	Frame_Shift_Ins	INS	ENST00000533244.1	37	c.278_279insG	CCDS8146.1																																																																																				0.644	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125		10	152						10	152	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92569775	92569776	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:92569775_92569776insT	ENST00000298047.6	+	15	10147_10148	c.10130_10131insT	c.(10129-10134)cattttfs	p.HF3377fs	FAT3_ENST00000409404.2_Frame_Shift_Ins_p.HF3377fs|FAT3_ENST00000525166.1_Frame_Shift_Ins_p.HF3227fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3377	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGACAGATTCATTTTTCCATTG	0.416										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10129-10131)cttfs		FAT atypical cadherin 3																																				SO:0001589	frameshift_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92569775_92569776insT	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10135dupT	11.37:g.92569780_92569780dupT	ENSP00000298047:p.His3377fs	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Frame_Shift_Ins_p.L3377fs|FAT3_ENST00000525166.1_Frame_Shift_Ins_p.L3227fs	p.L3377fs			Q8TDW7	FAT3_HUMAN			15	10147_10148	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3377			Cadherin 31.		B5MDB0|Q96AU6	Frame_Shift_Ins	INS	ENST00000298047.6	37	c.10130_10131insT																																																																																					0.416	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		9	1154						9	1154	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G	rs576548045		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:113076860_113076861insG	ENST00000533760.1	+	5	831_832	c.232_233insG	c.(232-234)cggfs	p.R78fs	NCAM1_ENST00000316851.7_Frame_Shift_Ins_p.R186fs|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.R195fs	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_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs	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		17	946						17	946	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116733010	116733011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:116733010_116733011insC	ENST00000292055.4	-	16	1853_1854	c.1818_1819insG	c.(1816-1821)gggcagfs	p.Q607fs	SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.Q506fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.Q607fs|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.G38fs|SIK3_ENST00000375300.1_Frame_Shift_Ins_p.Q665fs|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.Q665fs	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	607	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.5																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(1990-1995)ggagatfs		SIK family kinase 3																																				SO:0001589	frameshift_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116733010_116733011insC	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1819dupG	11.37:g.116733016_116733016dupC	ENSP00000292055:p.Gln607fs					SIK3_ENST00000542607.1_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.E38fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.D665fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.D506fs	p.D665fs			Q9Y2K2	SIK3_HUMAN			16	1997_1998	-			607			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Frame_Shift_Ins	INS	ENST00000292055.4	37	c.1992_1993insG	CCDS8379.1																																																																																				0.500	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		10	817						10	817	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777516	123777516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:123777516delC	ENST00000321355.2	+	1	408	c.378delC	c.(376-378)atcfs	p.I126fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		ACGTGGCCATCTGCAGCCCAC	0.502																																						ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(376-378)atfs		olfactory receptor, family 8, subfamily D, member 4							199.0	181.0	187.0					11																	123777516		2202	4299	6501	SO:0001589	frameshift_variant	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777516delC	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.378delC	11.37:g.123777516delC	ENSP00000325381:p.Ile126fs						p.I126fs	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	408	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	126					Q6IFE9	Frame_Shift_Del	DEL	ENST00000321355.2	37	c.378delC	CCDS31698.1																																																																																				0.502	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		23	293						23	293	---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G	rs373860109		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		7	274						7	274	---	---	---	---
FOXM1	2305	broad.mit.edu	37	12	2968087	2968088	+	Frame_Shift_Ins	INS	-	-	G	rs563190488		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:2968087_2968088insG	ENST00000359843.3	-	9	2076_2077	c.2008_2009insC	c.(2008-2010)cttfs	p.L670fs	ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000342628.2_Frame_Shift_Ins_p.L708fs|FOXM1_ENST00000361953.3_Frame_Shift_Ins_p.L655fs|Y_RNA_ENST00000410561.1_RNA|AC005841.1_ENST00000382678.3_5'Flank	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	670					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CGGTGATTCAAGGGGGGGAGCA	0.579																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(2122-2124)tgafs		forkhead box M1																																				SO:0001589	frameshift_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2968087_2968088insG	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.2009dupC	12.37:g.2968094_2968094dupG	ENSP00000352901:p.Leu670fs					ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000359843.3_Frame_Shift_Ins_p.*670fs|FOXM1_ENST00000361953.3_Frame_Shift_Ins_p.*655fs	p.*708fs	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		10	2235_2236	-			670					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Frame_Shift_Ins	INS	ENST00000359843.3	37	c.2122_2123insC	CCDS8515.1																																																																																				0.579	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		8	167						8	167	---	---	---	---
KCNA6	3742	broad.mit.edu	37	12	4920505	4920506	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:4920505_4920506insG	ENST00000280684.3	+	1	2164_2165	c.1298_1299insG	c.(1297-1302)gtggggfs	p.VG433fs	KCNA6_ENST00000433855.1_Frame_Shift_Ins_p.VG433fs|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	433					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CCCATGACTGTGGGGGGAAAGA	0.574										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(1297-1299)gggfs		potassium voltage-gated channel, shaker-related subfamily, member 6																																				SO:0001589	frameshift_variant	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920505_4920506insG	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1304dupG	12.37:g.4920511_4920511dupG	ENSP00000280684:p.Val433fs	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Frame_Shift_Ins_p.G433fs	p.G433fs	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	2164_2165	+			433						Frame_Shift_Ins	INS	ENST00000280684.3	37	c.1298_1299insG	CCDS8534.1																																																																																				0.574	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		8	439						8	439	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6153463	6153464	+	Frame_Shift_Ins	INS	-	-	G	rs62643632|rs62643631	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		15	429						15	429	---	---	---	---
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-495)caggggfs	p.QG164fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.QG109fs|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AAAAACATACAGGGGGGGAAGA	0.564																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(490-492)cggfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6924042_6924043insG	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.498dupG	12.37:g.6924049_6924049dupG	ENSP00000011653:p.Gln164fs					CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs	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		15	353						15	353	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13128321	13128322	+	Frame_Shift_Ins	INS	-	-	C	rs375870689		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:13128321_13128322insC	ENST00000014930.4	-	4	648_649	c.490_491insG	c.(490-492)gacfs	p.D164fs	RP11-392P7.6_ENST00000536029.1_RNA|HEBP1_ENST00000540916.1_5'UTR|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	164					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)		GAAGTAGATGTCCCCCCGGTAG	0.579																																						ENST00000014930.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(490-492)catfs		heme binding protein 1																																				SO:0001589	frameshift_variant	50865				circadian rhythm	extracellular region		g.chr12:13128321_13128322insC	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.491dupG	12.37:g.13128327_13128327dupC	ENSP00000014930:p.Asp164fs					RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|HEBP1_ENST00000540916.1_5'UTR|RP11-392P7.6_ENST00000545914.1_RNA	p.H164fs	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	4	648_649	-		Prostate(47;0.183)	164					A8K1G2|Q9Y5Z5	Frame_Shift_Ins	INS	ENST00000014930.4	37	c.490_491insG	CCDS31749.1																																																																																				0.579	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			10	357						10	357	---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14940365	14940366	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		26	401						26	401	---	---	---	---
KRT79	338785	broad.mit.edu	37	12	53215777	53215778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		13	254						13	254	---	---	---	---
GPR84	53831	broad.mit.edu	37	12	54757553	54757554	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:54757553_54757554insC	ENST00000551809.1	-	1	717_718	c.82_83insG	c.(82-84)gtgfs	p.V28fs	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Frame_Shift_Ins_p.V28fs			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.V28G(1)		NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						AGCCACCACCACCCCCCAGCTA	0.564																																						ENST00000551809.1																			1	Substitution - Missense(1)	p.V28G(1)	large_intestine(1)	NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(82-84)ggtfs		G protein-coupled receptor 84																																				SO:0001589	frameshift_variant	53831					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54757553_54757554insC	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.83dupG	12.37:g.54757559_54757559dupC	ENSP00000450310:p.Val28fs					RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Frame_Shift_Ins_p.G28fs|RP11-753H16.3_ENST00000550474.1_RNA	p.G28fs			Q9NQS5	GPR84_HUMAN			1	717_718	-			28					B6V9G7	Frame_Shift_Ins	INS	ENST00000551809.1	37	c.82_83insG	CCDS8878.1																																																																																				0.564	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			13	594						13	594	---	---	---	---
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C	rs201995432		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)accfs	p.T302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465																																						ENST00000242994.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(904-906)cccfs		neuronal differentiation 4																																				SO:0001589	frameshift_variant	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55421127_55421128insC	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.910dupC	12.37:g.55421133_55421133dupC	ENSP00000242994:p.Thr302fs						p.P302fs	NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN			2	1282_1283	+			302					B2RAC9	Frame_Shift_Ins	INS	ENST00000242994.3	37	c.904_905insC	CCDS8886.1																																																																																				0.465	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			15	1552						15	1552	---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56481362	56481363	+	Splice_Site	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:56481362_56481363insC	ENST00000267101.3	+	5	989_990	c.549_550insC	c.(550-552)ccc>Cccc	p.P184fs	ERBB3_ENST00000415288.2_Splice_Site_p.P125fs|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	184					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)			CCCAACCAGGTCCCCCCTGTCA	0.52																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.e5-1		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3																																				SO:0001630	splice_region_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.chr12:56481362_56481363insC	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.548-1->C	12.37:g.56481368_56481368dupC						ERBB3_ENST00000415288.2_Splice_Site_p.CP124_splice|ERBB3_ENST00000450146.2_Intron	p.CP183_splice	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		5	989_990	+			183					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Splice_Site	INS	ENST00000267101.3	37	c.547_splice	CCDS31833.1																																																																																				0.520	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3		Frame_Shift_Ins	11	641						11	641	---	---	---	---
NAB2	4665	broad.mit.edu	37	12	57485596	57485597	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:57485596_57485597insG	ENST00000300131.3	+	2	1150_1151	c.772_773insG	c.(772-774)aggfs	p.R258fs	NAB2_ENST00000342556.6_Frame_Shift_Ins_p.R258fs|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Frame_Shift_Ins_p.R258fs	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	258				PR -> Q (in Ref. 6 and 7). {ECO:0000305}.	cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GAGCTTCCCAAGGGGGGATGCT	0.574																																						ENST00000300131.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(772-774)gggfs		NGFI-A binding protein 2 (EGR1 binding protein 2)																																				SO:0001589	frameshift_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485596_57485597insG	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.778dupG	12.37:g.57485602_57485602dupG	ENSP00000300131:p.Arg258fs					NAB2_ENST00000357680.4_Frame_Shift_Ins_p.G258fs|NAB2_ENST00000342556.6_Frame_Shift_Ins_p.G258fs|NAB2_ENST00000554718.1_3'UTR	p.G258fs	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			2	1150_1151	+			258	PR -> Q (in Ref. 6 and 7).				B2RAK3|O76006|Q14797	Frame_Shift_Ins	INS	ENST00000300131.3	37	c.772_773insG	CCDS8930.1																																																																																				0.574	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		7	667						7	667	---	---	---	---
R3HDM2	22864	broad.mit.edu	37	12	57648749	57648750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:57648749_57648750insC	ENST00000347140.3	-	24	3127_3128	c.2737_2738insG	c.(2737-2739)gacfs	p.D913fs	R3HDM2_ENST00000403821.2_Frame_Shift_Ins_p.D947fs|RP11-123K3.4_ENST00000548184.1_Intron|R3HDM2_ENST00000402412.1_Frame_Shift_Ins_p.D927fs|R3HDM2_ENST00000441731.2_Frame_Shift_Ins_p.D608fs|R3HDM2_ENST00000358907.2_Frame_Shift_Ins_p.D913fs|R3HDM2_ENST00000413953.2_Intron			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	913						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCCACTGTTGTCCCCCCCACCC	0.634																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(2779-2781)caafs		R3H domain containing 2																																				SO:0001589	frameshift_variant	22864					nucleus	nucleic acid binding	g.chr12:57648749_57648750insC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.2738dupG	12.37:g.57648756_57648756dupC	ENSP00000317903:p.Asp913fs					R3HDM2_ENST00000347140.3_Frame_Shift_Ins_p.Q913fs|R3HDM2_ENST00000358907.2_Frame_Shift_Ins_p.Q913fs|R3HDM2_ENST00000393811.2_Frame_Shift_Ins_p.Q640fs|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000403821.2_Frame_Shift_Ins_p.Q947fs|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Frame_Shift_Ins_p.Q608fs	p.Q927fs			Q9Y2K5	R3HD2_HUMAN			24	3169_3170	-			913					Q2M1T9|Q3ZCT5	Frame_Shift_Ins	INS	ENST00000347140.3	37	c.2779_2780insG	CCDS8937.2																																																																																				0.634	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		16	253						16	253	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G	rs368789621		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.W144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.W231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(814-816)gggfs		GLI family zinc finger 1																																				SO:0001589	frameshift_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57860074_57860075insG		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.821dupG	12.37:g.57860081_57860081dupG	ENSP00000228682:p.Trp272fs					GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs	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		33	629						33	629	---	---	---	---
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)ccafs	p.P200fs	DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.P205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.P177fs|DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.P205fs|DCTN2_ENST00000551400.1_5'Flank	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_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000434715.3_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		13	229						13	229	---	---	---	---
TBK1	29110	broad.mit.edu	37	12	64889371	64889371	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:64889371delC	ENST00000331710.5	+	14	1969	c.1630delC	c.(1630-1632)ccgfs	p.P544fs		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	544					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		AGGCACTCATCCGAAAGACAG	0.403																																						ENST00000331710.5																			0				breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20						c.(1630-1632)cgfs		TANK-binding kinase 1							154.0	146.0	149.0					12																	64889371		2203	4300	6503	SO:0001589	frameshift_variant	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64889371delC	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1630delC	12.37:g.64889371delC	ENSP00000329967:p.Pro544fs						p.P544fs	NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	14	1969	+			544					A8K4S4|Q8IYV3|Q9NUJ5	Frame_Shift_Del	DEL	ENST00000331710.5	37	c.1630delC	CCDS8968.1																																																																																				0.403	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		9	346						9	346	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1197)cgccccfs	p.RP398fs	NAV3_ENST00000536525.2_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.RP398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1192-1194)cccfs		neuron navigator 3				2,3746		0,2,1872						4.8	1.0			90	1,7917		0,1,3958	no	frameshift	NAV3	NM_014903.4		0,3,5830	A1A1,A1R,RR		0.0126,0.0534,0.0257				3,11663				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400511_78400512insC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1199dupC	12.37:g.78400517_78400517dupC	ENSP00000381007:p.Arg398fs	HNSCC(70;0.22)				NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs	p.P398fs			Q8IVL0	NAV3_HUMAN			8	1366_1367	+			398					Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	37	c.1193_1194insC																																																																																					0.495	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		30	753						30	753	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G	rs550401137		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)ccafs	p.P1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.P722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3214-3216)cgtfs		UHRF1 binding protein 1-like																																				SO:0001589	frameshift_variant	23074							g.chr12:100451839_100451840insG		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3216dupC	12.37:g.100451846_100451846dupG	ENSP00000279907:p.Pro1072fs					UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	p.R1072fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			14	3427_3428	-			1072					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Frame_Shift_Ins	INS	ENST00000279907.7	37	c.3215_3216insC	CCDS31882.1																																																																																				0.371	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		8	153						8	153	---	---	---	---
MYL2	4633	broad.mit.edu	37	12	111348950	111348951	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:111348950_111348951insG	ENST00000228841.8	-	7	478_479	c.431_432insC	c.(430-432)cctfs	p.P144fs	MYL2_ENST00000548438.1_Frame_Shift_Ins_p.P130fs	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	144	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CAGTCACGTCAGGGGGGAAGGC	0.624																																					GBM(14;268 426 18829 21617 25540)	ENST00000228841.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						c.(430-432)cgafs		myosin, light chain 2, regulatory, cardiac, slow																																				SO:0001589	frameshift_variant	4633				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	g.chr12:111348950_111348951insG		CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"""Myosins / Light chain"", ""EF-hand domain containing"""	7583	protein-coding gene	gene with protein product	"""cardiac ventricular myosin light chain 2"""	160781	"""myosin, light polypeptide 2, regulatory, cardiac, slow"""			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.432dupC	12.37:g.111348956_111348956dupG	ENSP00000228841:p.Pro144fs					MYL2_ENST00000548438.1_Frame_Shift_Ins_p.R130fs	p.R144fs	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN			7	478_479	-			144			EF-hand 3.		Q16123	Frame_Shift_Ins	INS	ENST00000228841.8	37	c.431_432insC	CCDS31901.1																																																																																				0.624	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432		8	764						8	764	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:112600859_112600860insG	ENST00000430131.2	-	74	12985_12986	c.11840_11841insC	c.(11839-11841)ccafs	p.P3947fs	HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.P4223fs|HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P4197fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3947	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTGTGCCATCTGGGGGGGCGAT	0.629																																						ENST00000550722.1																			0											c.(12667-12669)cgafs		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	283450							g.chr12:112600859_112600860insG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11841dupC	12.37:g.112600866_112600866dupG	ENSP00000404379:p.Pro3947fs					HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs|HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs	p.R4223fs	NM_001109662.3	NP_001103132.3					75	13063_13064	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37	c.12668_12669insC																																																																																					0.629	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		10	247						10	247	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		17	488						17	488	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121132754	121132755	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:121132754_121132755insG	ENST00000228506.3	+	3	970_971	c.542_543insG	c.(541-546)caggggfs	p.QG181fs	RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_Intron	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	181					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						CTGAGTGTCCAGGGGGAGGTGT	0.485																																						ENST00000228506.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(541-543)cggfs		malectin																																				SO:0001589	frameshift_variant	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121132754_121132755insG	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.547dupG	12.37:g.121132759_121132759dupG	ENSP00000228506:p.Gln181fs					MLEC_ENST00000412616.2_Intron	p.R181fs	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			3	970_971	+			181						Frame_Shift_Ins	INS	ENST00000228506.3	37	c.542_543insG	CCDS9206.1																																																																																				0.485	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		7	985						7	985	---	---	---	---
HNF1A	6927	broad.mit.edu	37	12	121432117	121432118	+	Frame_Shift_Ins	INS	-	-	C	rs56348580	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:121432117_121432118insC	ENST00000257555.6	+	4	1090_1091	c.864_865insC	c.(865-867)cccfs	p.P289fs	HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000543427.1_Frame_Shift_Ins_p.P172fs|HNF1A_ENST00000544413.1_Frame_Shift_Ins_p.P289fs|HNF1A_ENST00000541395.1_Frame_Shift_Ins_p.P289fs|HNF1A_ENST00000402929.1_Frame_Shift_Ins_p.P289fs|HNF1A_ENST00000400024.2_Frame_Shift_Ins_p.P289fs			P20823	HNF1A_HUMAN	HNF1 homeobox A	289					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGTACAGCGGGCCCCCCCCAGG	0.663									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	GRCh37	CI064741|CM067044|CM082856	HNF1A	I|M	rs56348580	c.(862-867)ggccccfs		HNF1 homeobox A																																				SO:0001589	frameshift_variant	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121432117_121432118insC	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.872dupC	12.37:g.121432125_121432125dupC	ENSP00000257555:p.Pro289fs					HNF1A_ENST00000544413.1_Frame_Shift_Ins_p.GP288fs|HNF1A_ENST00000543427.1_Frame_Shift_Ins_p.GP171fs|HNF1A_ENST00000402929.1_Frame_Shift_Ins_p.GP288fs|HNF1A_ENST00000400024.2_Frame_Shift_Ins_p.GP288fs|HNF1A_ENST00000541395.1_Frame_Shift_Ins_p.GP288fs|HNF1A_ENST00000538626.1_Intron	p.GP288fs			P20823	HNF1A_HUMAN			4	1090_1091	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		288					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Frame_Shift_Ins	INS	ENST00000257555.6	37	c.864_865insC	CCDS9209.1																																																																																				0.663	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		11	33						11	33	---	---	---	---
DCLK1	9201	broad.mit.edu	37	13	36397007	36397008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr13:36397007_36397008insC	ENST00000360631.3	-	11	1623_1624	c.1412_1413insG	c.(1411-1413)ggafs	p.G471fs	DCLK1_ENST00000379893.1_Frame_Shift_Ins_p.G164fs|DCLK1_ENST00000255448.4_Frame_Shift_Ins_p.G471fs			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	471	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CAAAAAGGTCTCCCCCCTGAGA	0.52																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(1411-1413)ggafs		doublecortin-like kinase 1																																				SO:0001589	frameshift_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36397007_36397008insC	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1413dupG	13.37:g.36397013_36397013dupC	ENSP00000353846:p.Gly471fs					DCLK1_ENST00000360631.3_Frame_Shift_Ins_p.G471fs|DCLK1_ENST00000379893.1_Frame_Shift_Ins_p.G164fs	p.G471fs	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	11	1623_1624	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	471			Protein kinase.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Frame_Shift_Ins	INS	ENST00000360631.3	37	c.1412_1413insG																																																																																					0.520	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		9	662						9	662	---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76375005	76375006	+	Frame_Shift_Ins	INS	-	-	G	rs74596180	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr13:76375005_76375006insG	ENST00000341547.4	+	8	2064_2065	c.804_805insG	c.(805-807)gggfs	p.G269fs	LMO7_ENST00000526202.1_Frame_Shift_Ins_p.G178fs|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.G269fs|LMO7_ENST00000465261.2_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000357063.3_Frame_Shift_Ins_p.G269fs	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	269					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCACGTTGAGAGGGGGGCGTGA	0.45																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(802-807)agggggfs		LIM domain 7																																				SO:0001589	frameshift_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76375005_76375006insG	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.810dupG	13.37:g.76375011_76375011dupG	ENSP00000342112:p.Gly269fs					LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000341547.4_Frame_Shift_Ins_p.RG268fs|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.RG177fs	p.RG268fs			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	8	2064_2065	+		Breast(118;0.0992)	268					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Frame_Shift_Ins	INS	ENST00000341547.4	37	c.804_805insG	CCDS9454.1																																																																																				0.450	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		8	565						8	565	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88327657	88327658	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr13:88327657_88327658insC	ENST00000325089.6	+	2	233_234	c.14_15insC	c.(13-18)tgccccfs	p.CP5fs	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	5					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CACACTTGCTGCCCCCCAGTAA	0.436																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(13-15)tccfs		SLIT and NTRK-like family, member 5																																				SO:0001589	frameshift_variant	26050					integral to membrane		g.chr13:88327657_88327658insC	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.20dupC	13.37:g.88327663_88327663dupC	ENSP00000366283:p.Cys5fs					SLITRK5_ENST00000400028.3_Intron	p.S5fs	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	233_234	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		5					B3KNB8|B4DSH5|Q5VT81	Frame_Shift_Ins	INS	ENST00000325089.6	37	c.14_15insC	CCDS9465.1																																																																																				0.436	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			18	833						18	833	---	---	---	---
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr13:97928603_97928604insC	ENST00000376673.3	+	2	895_896	c.114_115insC	c.(115-117)cccfs	p.P39fs	MBNL2_ENST00000345429.6_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000397601.1_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_ENST00000445661.2_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000397601.1_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		8	404						8	404	---	---	---	---
STK24	8428	broad.mit.edu	37	13	99114124	99114125	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr13:99114124_99114125insC	ENST00000376547.3	-	8	1137_1138	c.992_993insG	c.(991-993)ggcfs	p.G331fs	STK24_ENST00000397517.2_Frame_Shift_Ins_p.G319fs|STK24_ENST00000539966.1_Frame_Shift_Ins_p.G300fs	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	331					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CAGAATCACTGCCCCCCGAGGC	0.535																																						ENST00000397517.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17						c.(955-957)gagfs		serine/threonine kinase 24																																				SO:0001589	frameshift_variant	8428				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr13:99114124_99114125insC	AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"""STE20-like kinase 3"", ""sterile 20-like kinase 3"""	604984	"""serine/threonine kinase 24 (Ste20, yeast homolog)"""			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.993dupG	13.37:g.99114130_99114130dupC	ENSP00000365730:p.Gly331fs					STK24_ENST00000376547.3_Frame_Shift_Ins_p.E331fs|STK24_ENST00000539966.1_Frame_Shift_Ins_p.E300fs	p.E319fs	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		8	1032_1033	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		331					O14840|Q5JV92	Frame_Shift_Ins	INS	ENST00000376547.3	37	c.956_957insG	CCDS9488.1																																																																																				0.535	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576		16	781						16	781	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518349	108518350	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr13:108518349_108518350insC	ENST00000375915.2	-	1	733_734	c.595_596insG	c.(595-597)gcgfs	p.A199fs		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	199						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCCCCCGGCCGCCCCCCGACTC	0.624																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(595-597)ggcfs		family with sequence similarity 155, member A																																				SO:0001589	frameshift_variant	728215					integral to membrane	binding	g.chr13:108518349_108518350insC	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.596dupG	13.37:g.108518355_108518355dupC	ENSP00000365080:p.Ala199fs						p.G199fs	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	733_734	-			199					B2RUV1|B7Z334	Frame_Shift_Ins	INS	ENST00000375915.2	37	c.595_596insG	CCDS32006.1																																																																																				0.624	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		7	198						7	198	---	---	---	---
RNASE10	338879	broad.mit.edu	37	14	20979115	20979116	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:20979115_20979116insG	ENST00000328444.5	+	1	504_505	c.485_486insG	c.(484-489)aaggggfs	p.KG162fs	RNASE10_ENST00000430083.1_Frame_Shift_Ins_p.KG190fs	NM_001012975.1	NP_001012993.1	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	162					epithelial cell morphogenesis (GO:0003382)|heterotypic cell-cell adhesion (GO:0034113)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of sperm motility (GO:1902093)|regulation of fertilization (GO:0080154)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		TGTGAGCTCAAGGGGGGAAAAT	0.48																																						ENST00000430083.1																			0				endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12						c.(568-570)aggfs		ribonuclease, RNase A family, 10 (non-active)																																				SO:0001589	frameshift_variant	338879					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:20979115_20979116insG		CCDS32035.1	14q11.1	2004-11-16				ENSG00000182545		"""Ribonucleases, RNase A"""	19275	protein-coding gene	gene with protein product						12920233	Standard	XM_005267584		Approved	RNASE9	uc010tlj.2	Q5GAN6		ENST00000328444.5:c.491dupG	14.37:g.20979121_20979121dupG	ENSP00000333358:p.Lys162fs					RNASE10_ENST00000328444.5_Frame_Shift_Ins_p.R162fs	p.R190fs			Q5GAN6	RNS10_HUMAN	Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)	2	973_974	+	all_cancers(95;0.00123)		162					A2RUQ3|B4DKY4	Frame_Shift_Ins	INS	ENST00000328444.5	37	c.569_570insG	CCDS32035.1																																																																																				0.480	RNASE10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411088.1	XM_292225		12	518						12	518	---	---	---	---
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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			38	827						38	827	---	---	---	---
ARHGEF40	55701	broad.mit.edu	37	14	21556191	21556192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:21556191_21556192insC	ENST00000298694.4	+	22	4579_4580	c.4452_4453insC	c.(4453-4455)cccfs	p.P1485fs	RP11-998D10.7_ENST00000554733.2_lincRNA|ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.P1437fs			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			7	261						7	261	---	---	---	---
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)cccaagfs	p.K1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.48																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(3124-3129)ccagaafs		suppressor of Ty 16 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21820849_21820850insG	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.3127dupC	14.37:g.21820855_21820855dupG	ENSP00000216297:p.Lys1043fs						p.E1043fs	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	26	3464_3465	-	all_cancers(95;0.00115)		1043					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Frame_Shift_Ins	INS	ENST00000216297.2	37	c.3126_3127insC	CCDS9569.1																																																																																				0.480	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			13	689						13	689	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21884031	21884031	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:21884031delT	ENST00000557364.1	-	6	2015	c.1752delA	c.(1750-1752)aaafs	p.K584fs	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs|CHD8_ENST00000399982.2_Frame_Shift_Del_p.K584fs			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	584					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCTCTGTATATTTTTTTCGCT	0.398																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(1750-1752)aafs		chromodomain helicase DNA binding protein 8							202.0	190.0	194.0					14																	21884031		1845	4090	5935	SO:0001589	frameshift_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21884031delT	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1752delA	14.37:g.21884031delT	ENSP00000451601:p.Lys584fs					CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Frame_Shift_Del_p.K584fs	p.K584fs	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	5	1816	-	all_cancers(95;0.00121)		584					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Del	DEL	ENST00000557364.1	37	c.1752delA	CCDS53885.1																																																																																				0.398	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		7	219						7	219	---	---	---	---
OR4E2	26686	broad.mit.edu	37	14	22133745	22133746	+	Frame_Shift_Ins	INS	-	-	G	rs368910911		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:22133745_22133746insG	ENST00000408935.1	+	1	449_450	c.449_450insG	c.(448-453)ttggggfs	p.LG150fs		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, 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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GCTCTCTGGTTGGGGGGTACTG	0.48																																						ENST00000408935.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(448-450)tggfs		olfactory receptor, family 4, subfamily E, member 2																																				SO:0001589	frameshift_variant	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22133745_22133746insG		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.455dupG	14.37:g.22133751_22133751dupG	ENSP00000386195:p.Leu150fs						p.W150fs	NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	449_450	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	150					Q6IET6|Q96R62	Frame_Shift_Ins	INS	ENST00000408935.1	37	c.449_450insG	CCDS41916.1																																																																																				0.480	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			9	603						9	603	---	---	---	---
TRAV3	28690	broad.mit.edu	37	14	22192097	22192098	+	RNA	INS	-	-	C	rs570668890	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:22192097_22192098insC	ENST00000390425.2	+	0	138_139									T cell receptor alpha variable 3 (gene/pseudogene)																		GCTGGAAAGGACCCCCCCAATC	0.574																																						ENST00000390425.2																			0																																																			28690							g.chr14:22192097_22192098insC	AE000658		14q11.2	2012-02-07	2008-09-12		ENSG00000211777	ENSG00000211777		"""T cell receptors / TRA locus"""	12128	other	T cell receptor gene			"""T cell receptor alpha variable 3"""			8188290	Standard	NG_001332		Approved				OTTHUMG00000168981		14.37:g.22192104_22192104dupC														0	138_139	+									RNA	INS	ENST00000390425.2	37																																																																																						0.574	TRAV3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401876.1	NG_001332		12	389						12	389	---	---	---	---
RBM23	55147	broad.mit.edu	37	14	23371029	23371030	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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_ENST00000555209.1_Frame_Shift_Ins_p.Q187fs|RBM23_ENST00000346528.5_Frame_Shift_Ins_p.Q403fs|RBM23_ENST00000399922.2_Frame_Shift_Ins_p.Q421fs	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_ENST00000399922.2_Frame_Shift_Ins_p.D421fs|RBM23_ENST00000542016.2_Frame_Shift_Ins_p.D267fs|RBM23_ENST00000346528.5_Frame_Shift_Ins_p.D403fs	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			7	408						7	408	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23549377	23549378	+	Frame_Shift_Ins	INS	-	-	G	rs386775580		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:23549377_23549378insG	ENST00000262710.1	-	6	1667_1668	c.1340_1341insC	c.(1339-1341)gctfs	p.A447fs	ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.A447fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.A407fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.A389fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	447			A -> P (in dbSNP:rs941719). {ECO:0000269|PubMed:10490026, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18220336, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:9734811, ECO:0000269|Ref.2, ECO:0000269|Ref.4}.		apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GAATGAGGACAGCGGGGGCTGG	0.5																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1339-1341)ggtfs		apoptotic chromatin condensation inducer 1																																				SO:0001589	frameshift_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23549377_23549378insG	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1341dupC	14.37:g.23549378_23549378dupG	ENSP00000262710:p.Ala447fs					ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.G407fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.G389fs|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.G447fs	p.G447fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	1667_1668	-	all_cancers(95;1.36e-05)		447		A -> P (in dbSNP:rs941719).			B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Frame_Shift_Ins	INS	ENST00000262710.1	37	c.1340_1341insC	CCDS9587.1																																																																																				0.500	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		9	287						9	287	---	---	---	---
EFS	10278	broad.mit.edu	37	14	23829230	23829231	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:23829230_23829231insG	ENST00000216733.3	-	4	1063_1064	c.456_457insC	c.(454-459)cccaccfs	p.T153fs	EFS_ENST00000351354.3_Frame_Shift_Ins_p.T60fs|EFS_ENST00000429593.2_Frame_Shift_Ins_p.T60fs	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	153	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CGGAGGGCGGTGGGGGGCACAT	0.634																																						ENST00000216733.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(454-459)ccccgcfs		embryonal Fyn-associated substrate																																				SO:0001589	frameshift_variant	10278				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23829230_23829231insG	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.457dupC	14.37:g.23829236_23829236dupG	ENSP00000216733:p.Thr153fs					EFS_ENST00000429593.2_Frame_Shift_Ins_p.R60fs|EFS_ENST00000351354.3_Frame_Shift_Ins_p.R60fs	p.R153fs	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1063_1064	-	all_cancers(95;7.12e-06)		153			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Frame_Shift_Ins	INS	ENST00000216733.3	37	c.456_457insC	CCDS9595.1																																																																																				0.634	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			7	219						7	219	---	---	---	---
C14orf28	122525	broad.mit.edu	37	14	45369723	45369724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:45369723_45369724insG	ENST00000325192.3	+	2	360_361	c.85_86insG	c.(85-87)tggfs	p.W29fs	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Frame_Shift_Ins_p.W29fs	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	29										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TGTTCTTCCTTGGGGGGGTGTT	0.376																																						ENST00000325192.3																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						c.(85-87)gggfs		chromosome 14 open reading frame 28				14,4250		0,14,2118						5.6	1.0			77	13,8241		0,13,4114	no	frameshift	C14orf28	NM_001017923.1		0,27,6232	A1A1,A1R,RR		0.1575,0.3283,0.2157				27,12491				SO:0001589	frameshift_variant	122525							g.chr14:45369723_45369724insG	AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"""dopamine receptor interacting protein 1"""						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.92dupG	14.37:g.45369730_45369730dupG	ENSP00000326846:p.Trp29fs					RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Frame_Shift_Ins_p.G29fs	p.G29fs	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN			2	360_361	+			29						Frame_Shift_Ins	INS	ENST00000325192.3	37	c.85_86insG	CCDS32069.1																																																																																				0.376	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410086.1	NM_001017923		8	98						8	98	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		14	378						14	378	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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	116						7	116	---	---	---	---
MED6	10001	broad.mit.edu	37	14	71051554	71051555	+	Frame_Shift_Ins	INS	-	-	G	rs145634622	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		8	918						8	918	---	---	---	---
IRF2BPL	64207	broad.mit.edu	37	14	77493551	77493552	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:77493551_77493552insC	ENST00000238647.3	-	1	1482_1483	c.584_585insG	c.(583-585)ggcfs	p.G195fs		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	195	Gly/Pro-rich.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						AGCCGTTTGGGCCCCCCAGGCC	0.693																																						ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(583-585)gccfs		interferon regulatory factor 2 binding protein-like																																				SO:0001589	frameshift_variant	64207					nucleus		g.chr14:77493551_77493552insC	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.585dupG	14.37:g.77493557_77493557dupC	ENSP00000238647:p.Gly195fs						p.A195fs	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1482_1483	-			195			Gly/Pro-rich.		Q8NDQ2|Q96JG2|Q9H3I7	Frame_Shift_Ins	INS	ENST00000238647.3	37	c.584_585insG	CCDS9854.1																																																																																				0.693	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		2	4						2	4	---	---	---	---
EML1	2009	broad.mit.edu	37	14	100367333	100367334	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:100367333_100367334insT	ENST00000262233.6	+	9	1104_1105	c.965_966insT	c.(964-969)ggttttfs	p.GF322fs	EML1_ENST00000334192.4_Frame_Shift_Ins_p.GF341fs|EML1_ENST00000327921.9_Frame_Shift_Ins_p.GF310fs	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	322	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				ATTGGAATAGGTTTTTTTGACC	0.431																																						ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(964-966)gttfs		echinoderm microtubule associated protein like 1																																				SO:0001589	frameshift_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100367333_100367334insT	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.972dupT	14.37:g.100367340_100367340dupT	ENSP00000262233:p.Gly322fs					EML1_ENST00000327921.9_Frame_Shift_Ins_p.V310fs|EML1_ENST00000334192.4_Frame_Shift_Ins_p.V341fs	p.V322fs	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			9	1104_1105	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	322					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Frame_Shift_Ins	INS	ENST00000262233.6	37	c.965_966insT	CCDS32155.1																																																																																				0.431	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		7	792						7	792	---	---	---	---
IGHG2	3501	broad.mit.edu	37	14	106110246	106110247	+	RNA	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:106110246_106110247insG	ENST00000390545.2	-	0	370_371							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCTTGGGTTTTGGGGGGAAGAG	0.619																																						ENST00000390545.2																			0																																																			3501							g.chr14:106110246_106110247insG	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110252_106110252dupG														0	370_371	-								A6NE66	RNA	INS	ENST00000390545.2	37																																																																																						0.619	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		14	625						14	625	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G	rs570771230|rs571384652	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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			25	794						25	794	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25304699	25304700	+	RNA	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:25304699_25304700insC	ENST00000549804.2	+	0	98				SNORD116-3_ENST00000384287.1_RNA|SNHG14_ENST00000384733.1_RNA|SNORD116-5_ENST00000384462.1_RNA|SNHG14_ENST00000547292.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		CGATGATGAGTCCCCCCAAAAA	0.515																																						ENST00000549804.2																			0																																																			104472715							g.chr15:25304699_25304700insC			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.25304705_25304705dupC						SNHG14_ENST00000384733.1_RNA								0	98	+									RNA	INS	ENST00000549804.2	37																																																																																						0.515	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			7	472						7	472	---	---	---	---
THBS1	7057	broad.mit.edu	37	15	39881488	39881489	+	Frame_Shift_Ins	INS	-	-	C	rs370418172		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:39881488_39881489insC	ENST00000260356.5	+	12	2024_2025	c.1859_1860insC	c.(1858-1863)tgccccfs	p.CP620fs		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	620					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TGCCTGCCCTGCCCCCCACGCT	0.569																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1858-1860)tccfs		thrombospondin 1	Becaplermin(DB00102)																																			SO:0001589	frameshift_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39881488_39881489insC		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1865dupC	15.37:g.39881494_39881494dupC	ENSP00000260356:p.Cys620fs						p.S620fs	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	12	2024_2025	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	620			EGF-like 2; calcium-binding (Potential).		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Frame_Shift_Ins	INS	ENST00000260356.5	37	c.1859_1860insC	CCDS32194.1																																																																																				0.569	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		17	605						17	605	---	---	---	---
BMF	90427	broad.mit.edu	37	15	40396470	40396471	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:40396470_40396471insG	ENST00000354670.4	-	4	597_598	c.363_364insC	c.(361-366)cccgaafs	p.E122fs	BMF_ENST00000561282.1_Frame_Shift_Ins_p.E122fs|BMF_ENST00000220446.4_Intron|BMF_ENST00000561360.1_Frame_Shift_Ins_p.E122fs|BMF_ENST00000558774.1_Intron|BMF_ENST00000431415.3_Frame_Shift_Ins_p.E122fs|BMF_ENST00000559701.1_Intron|BMF_ENST00000397573.1_Frame_Shift_Ins_p.E122fs	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	122					anoikis (GO:0043276)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		CACTGCCCTTCGGGGGGCTGCT	0.569																																						ENST00000354670.4																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6						c.(361-366)ccaaggfs		Bcl2 modifying factor																																				SO:0001589	frameshift_variant	90427				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding	g.chr15:40396470_40396471insG	BC060783	CCDS10052.1, CCDS32196.1, CCDS45223.1	15q14	2014-03-07			ENSG00000104081	ENSG00000104081			24132	protein-coding gene	gene with protein product		606266				11546872	Standard	NM_001003943		Approved	FLJ00065	uc001zkw.4	Q96LC9	OTTHUMG00000129875	ENST00000354670.4:c.364dupC	15.37:g.40396476_40396476dupG	ENSP00000346697:p.Glu122fs					BMF_ENST00000559701.1_Intron|BMF_ENST00000558774.1_Intron|BMF_ENST00000431415.3_Frame_Shift_Ins_p.R122fs|BMF_ENST00000397573.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000561360.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000561282.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000220446.4_Intron	p.R122fs	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)	4	597_598	-		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	122					Q2M396|Q6NT30|Q6NT56|Q6P9F6|Q7Z7D4|Q7Z7D5|Q9H7K7	Frame_Shift_Ins	INS	ENST00000354670.4	37	c.363_364insC	CCDS10052.1																																																																																				0.569	BMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252119.1	NM_033503		10	395						10	395	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		19	359						19	359	---	---	---	---
CHST14	113189	broad.mit.edu	37	15	40764439	40764440	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:40764439_40764440insC	ENST00000306243.5	+	1	1280_1281	c.1027_1028insC	c.(1027-1029)gccfs	p.A343fs	CHST14_ENST00000559991.1_Frame_Shift_Ins_p.A318fs	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	343					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		CTTGTGCAGTGCCCCCCGGGCC	0.619																																						ENST00000306243.5																			0				cervix(1)|large_intestine(1)|prostate(2)	4						c.(1027-1029)cccfs		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14																																				SO:0001589	frameshift_variant	113189				carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding	g.chr15:40764439_40764440insC	AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"""Sulfotransferases, membrane-bound"""	24464	protein-coding gene	gene with protein product		608429	"""dermatan 4 sulfotransferase 1"""	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.1033dupC	15.37:g.40764445_40764445dupC	ENSP00000307297:p.Ala343fs					CHST14_ENST00000559991.1_Frame_Shift_Ins_p.P318fs	p.P343fs	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)	1	1280_1281	+		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	343					Q6PJ31|Q6UXA0|Q96P94	Frame_Shift_Ins	INS	ENST00000306243.5	37	c.1027_1028insC	CCDS10059.1																																																																																				0.619	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1	NM_130468		11	294						11	294	---	---	---	---
TTBK2	146057	broad.mit.edu	37	15	43044487	43044488	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:43044487_43044488insT	ENST00000267890.6	-	14	3064_3065	c.2956_2957insA	c.(2956-2958)agafs	p.R986fs		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	986					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTTGAATTGTCTTTTTTCCACC	0.45																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(2956-2958)acafs		tau tubulin kinase 2																																				SO:0001589	frameshift_variant	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43044487_43044488insT	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2957dupA	15.37:g.43044493_43044493dupT	ENSP00000267890:p.Arg986fs						p.T986fs	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	3064_3065	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	986					O94932|Q6ZN52|Q8IVV1	Frame_Shift_Ins	INS	ENST00000267890.6	37	c.2956_2957insA	CCDS42029.1																																																																																				0.450	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		10	918						10	918	---	---	---	---
TTBK2	146057	broad.mit.edu	37	15	43044816	43044817	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:43044816_43044817insT	ENST00000267890.6	-	14	2735_2736	c.2627_2628insA	c.(2626-2628)aatfs	p.N876fs		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	876					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TAGATATCTTATTTTTTTGCAT	0.406																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(2626-2628)aaafs		tau tubulin kinase 2																																				SO:0001589	frameshift_variant	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43044816_43044817insT	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2628dupA	15.37:g.43044823_43044823dupT	ENSP00000267890:p.Asn876fs						p.K876fs	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	2735_2736	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	876					O94932|Q6ZN52|Q8IVV1	Frame_Shift_Ins	INS	ENST00000267890.6	37	c.2627_2628insA	CCDS42029.1																																																																																				0.406	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		8	784						8	784	---	---	---	---
STRC	161497	broad.mit.edu	37	15	43893733	43893734	+	Frame_Shift_Ins	INS	-	-	G	rs74643365|rs138763871	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:43893733_43893734insG	ENST00000450892.2	-	24	4638_4639	c.4561_4562insC	c.(4561-4563)cggfs	p.R1521fs	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Frame_Shift_Ins_p.R748fs	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1521					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ACGAAATCCCCGGGGGGGACCC	0.53																																						ENST00000450892.2																			0				skin(4)	4						c.(4561-4563)gggfs		stereocilin																																				SO:0001589	frameshift_variant	161497				sensory perception of sound	cell surface		g.chr15:43893733_43893734insG	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4562dupC	15.37:g.43893740_43893740dupG	ENSP00000401513:p.Arg1521fs					STRC_ENST00000541030.1_Frame_Shift_Ins_p.G748fs	p.G1521fs	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	24	4638_4639	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1521						Frame_Shift_Ins	INS	ENST00000450892.2	37	c.4561_4562insC	CCDS10098.1																																																																																				0.530	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		8	223						8	223	---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45457005	45457006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:45457005_45457006insC	ENST00000321429.4	+	35	4969_4970	c.4562_4563insC	c.(4561-4566)ggccccfs	p.GP1521fs	DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.GP1521fs|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.GP1167fs	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1521					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.G1524fs*26(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TTTAGCTGTGGCCCCCCTGGCA	0.545																																						ENST00000321429.4																			1	Insertion - Frameshift(1)	p.G1524fs*26(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(4561-4563)gccfs		dual oxidase 1																																				SO:0001589	frameshift_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45457005_45457006insC	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4568dupC	15.37:g.45457011_45457011dupC	ENSP00000317997:p.Gly1521fs					DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.A1521fs|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.A1167fs	p.A1521fs	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	35	4969_4970	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1521					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Frame_Shift_Ins	INS	ENST00000321429.4	37	c.4562_4563insC	CCDS32221.1																																																																																				0.545	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		12	475						12	475	---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55912218	55912219	+	Frame_Shift_Ins	INS	-	-	G	rs370777308		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:55912218_55912219insG	ENST00000389286.4	-	20	3491_3492	c.3444_3445insC	c.(3442-3447)cccaacfs	p.N1149fs		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATCAGAGGTTGGGGGGTGTGG	0.49																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(3442-3447)ccacctfs		protogenin																																				SO:0001589	frameshift_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55912218_55912219insG	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3445dupC	15.37:g.55912224_55912224dupG	ENSP00000373937:p.Asn1149fs						p.P1149fs	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	20	3491_3492	-			1149						Frame_Shift_Ins	INS	ENST00000389286.4	37	c.3444_3445insC	CCDS42040.1																																																																																				0.490	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		9	302						9	302	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		30	413						30	413	---	---	---	---
LCTL	197021	broad.mit.edu	37	15	66850185	66850186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:66850185_66850186insC	ENST00000341509.5	-	8	927_928	c.796_797insG	c.(796-798)gaafs	p.E266fs	LCTL_ENST00000537670.1_Frame_Shift_Ins_p.E93fs	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	266					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTCCACAGGTTCCCCCCAGTCA	0.525																																						ENST00000341509.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(796-798)accfs		lactase-like																																				SO:0001589	frameshift_variant	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66850185_66850186insC	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.797dupG	15.37:g.66850191_66850191dupC	ENSP00000343490:p.Glu266fs					LCTL_ENST00000537670.1_Frame_Shift_Ins_p.T93fs	p.T266fs	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN			8	927_928	-			266					B3KQY0	Frame_Shift_Ins	INS	ENST00000341509.5	37	c.796_797insG	CCDS10220.1																																																																																				0.525	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		9	583						9	583	---	---	---	---
LARP6	55323	broad.mit.edu	37	15	71125256	71125257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		15	733						15	733	---	---	---	---
FURIN	5045	broad.mit.edu	37	15	91424956	91424957	+	Frame_Shift_Ins	INS	-	-	G	rs35641241		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:91424956_91424957insG	ENST00000268171.3	+	16	2512_2513	c.2233_2234insG	c.(2233-2235)cggfs	p.R745fs	FES_ENST00000328850.3_5'Flank|FES_ENST00000394302.1_5'Flank|FES_ENST00000414248.2_5'Flank	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	745					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R745L(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTTTAGTTTTCGGGGGGTGAAG	0.619																																						ENST00000268171.3																			1	Substitution - Missense(1)	p.R745L(1)	lung(1)	breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36						c.(2233-2235)gggfs		furin (paired basic amino acid cleaving enzyme)																																				SO:0001589	frameshift_variant	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91424956_91424957insG	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.2239dupG	15.37:g.91424962_91424962dupG	ENSP00000268171:p.Arg745fs						p.G745fs	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	Lung(145;0.189)		16	2512_2513	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		745					Q14336|Q6LBS3|Q9UCZ5	Frame_Shift_Ins	INS	ENST00000268171.3	37	c.2233_2234insG	CCDS10364.1																																																																																				0.619	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		9	496						9	496	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93540529	93540530	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:93540529_93540530insG	ENST00000394196.4	+	30	4849_4850	c.3781_3782insG	c.(3781-3783)tggfs	p.W1261fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.W1261fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1261					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGATGTAGAGTGGGGGGTGGAA	0.411																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(3781-3783)gggfs		chromodomain helicase DNA binding protein 2																																				SO:0001589	frameshift_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93540529_93540530insG	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3787dupG	15.37:g.93540535_93540535dupG	ENSP00000377747:p.Trp1261fs					CHD2_ENST00000557381.1_Frame_Shift_Ins_p.G1261fs	p.G1261fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		30	4849_4850	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1261					C6G482|Q96IP5	Frame_Shift_Ins	INS	ENST00000394196.4	37	c.3781_3782insG	CCDS10374.2																																																																																				0.411	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		15	470						15	470	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3634840	3634841	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		17	1278						17	1278	---	---	---	---
MGRN1	23295	broad.mit.edu	37	16	4701982	4701983	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:4701982_4701983insC	ENST00000399577.5	+	3	319_320	c.226_227insC	c.(226-228)gccfs	p.A76fs	MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.A76fs|MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.A76fs|MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.A76fs|MGRN1_ENST00000588994.1_Frame_Shift_Ins_p.A76fs	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	76					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CGTCACTCCTGCCCCCCACGAG	0.619																																						ENST00000399577.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(226-228)cccfs		mahogunin ring finger 1, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	23295				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4701982_4701983insC	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.232dupC	16.37:g.4701988_4701988dupC	ENSP00000382487:p.Ala76fs					MGRN1_ENST00000588994.1_Frame_Shift_Ins_p.P76fs|MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.P76fs|MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.P76fs|MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.P76fs	p.P76fs	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN			3	319_320	+			76					A4URL3|A4URL4|Q86W76	Frame_Shift_Ins	INS	ENST00000399577.5	37	c.226_227insC	CCDS45402.1																																																																																				0.619	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			9	565						9	565	---	---	---	---
ALG1	56052	broad.mit.edu	37	16	5125390	5125391	+	Splice_Site	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:5125390_5125391insC	ENST00000262374.5	+	4	423_424	c.392_393insC	c.(391-396)aacccc>aaCcccc	p.NP131fs	ALG1_ENST00000544428.1_Splice_Site_p.NP20fs|ALG1_ENST00000588623.1_Splice_Site_p.NP20fs	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	131					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CTTTCCTAGAACCCCCCAGGTC	0.49																																						ENST00000588623.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.e5-1		ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase																																				SO:0001630	splice_region_variant	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5125390_5125391insC	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.391-1->C	16.37:g.5125396_5125396dupC						ALG1_ENST00000544428.1_Splice_Site_p.T20_splice|ALG1_ENST00000262374.5_Splice_Site_p.T131_splice	p.T20_splice			Q9BT22	ALG1_HUMAN			5	1159_1160	+		Ovarian(90;0.0164)	131					B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Splice_Site	INS	ENST00000262374.5	37	c.57_splice	CCDS10528.1																																																																																				0.490	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109	Frame_Shift_Ins	9	1059						9	1059	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3303)ttccccfs	p.FP1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3298-3300)tccfs		NODAL modulator 1																																				SO:0001589	frameshift_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14980694_14980695insC	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3305dupC	16.37:g.14980700_14980700dupC	ENSP00000287667:p.Phe1100fs						p.S1100fs	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			28	3470_3471	+			1100					P78421|Q8IW21|Q96DG0	Frame_Shift_Ins	INS	ENST00000287667.7	37	c.3299_3300insC	CCDS10556.1																																																																																				0.475	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			20	1485						20	1485	---	---	---	---
IL21R	50615	broad.mit.edu	37	16	27460060	27460061	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:27460060_27460061insG	ENST00000337929.3	+	9	1546_1547	c.1073_1074insG	c.(1072-1077)tcggggfs	p.SG358fs	IL21R_ENST00000395755.1_Frame_Shift_Ins_p.SG358fs|IL21R_ENST00000395754.4_Frame_Shift_Ins_p.SG358fs|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Frame_Shift_Ins_p.SG358fs	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	358					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GCCCAGAACTCGGGGGGCTCAG	0.624			T	BCL6	NHL																																	ENST00000337929.3				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(1072-1074)tggfs		interleukin 21 receptor																																				SO:0001589	frameshift_variant	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27460060_27460061insG	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1079dupG	16.37:g.27460066_27460066dupG	ENSP00000338010:p.Ser358fs					IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Frame_Shift_Ins_p.W358fs|IL21R_ENST00000395755.1_Frame_Shift_Ins_p.W358fs|IL21R_ENST00000395754.4_Frame_Shift_Ins_p.W358fs	p.W358fs	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN			9	1546_1547	+			358					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Frame_Shift_Ins	INS	ENST00000337929.3	37	c.1073_1074insG	CCDS10630.1																																																																																				0.624	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		10	310						10	310	---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27499709	27499710	+	Frame_Shift_Ins	INS	-	-	C	rs199881803		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:27499709_27499710insC	ENST00000356183.4	-	23	3553_3554	c.3538_3539insG	c.(3538-3540)gaafs	p.E1180fs	GTF3C1_ENST00000561623.1_Frame_Shift_Ins_p.E1180fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1180					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TACTCTTGCTTCCCCCCAAATA	0.55																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(3538-3540)agcfs		general transcription factor IIIC, polypeptide 1, alpha 220kDa																																				SO:0001589	frameshift_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27499709_27499710insC	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3539dupG	16.37:g.27499715_27499715dupC	ENSP00000348510:p.Glu1180fs					GTF3C1_ENST00000561623.1_Frame_Shift_Ins_p.S1180fs	p.S1180fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			23	3553_3554	-			1180					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Frame_Shift_Ins	INS	ENST00000356183.4	37	c.3538_3539insG	CCDS32414.1																																																																																				0.550	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		17	571						17	571	---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29891248	29891249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:29891248_29891249insG	ENST00000308713.5	-	9	2036_2037	c.1509_1510insC	c.(1507-1512)cccaatfs	p.N504fs	SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.N434fs|SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.N460fs|SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.N390fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	504	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGATGGCATTGGGGGGCCCAG	0.604																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1507-1512)ccatgcfs		seizure related 6 homolog (mouse)-like 2																																				SO:0001589	frameshift_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29891248_29891249insG	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1510dupC	16.37:g.29891254_29891254dupG	ENSP00000312550:p.Asn504fs					SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.C460fs|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.C434fs|SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.C390fs	p.C504fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN			9	2036_2037	-			504			Sushi 2.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Frame_Shift_Ins	INS	ENST00000308713.5	37	c.1509_1510insC	CCDS10659.1																																																																																				0.604	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		12	1187						12	1187	---	---	---	---
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		21	407						21	407	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30733909	30733910	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:30733909_30733910insG	ENST00000262518.4	+	23	4117_4118	c.3732_3733insG	c.(3733-3735)gggfs	p.G1245fs	SRCAP_ENST00000395059.2_Intron|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1245	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGTGTCAGCAGGGGGGCAGCA	0.614																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(3730-3735)gcggggfs		Snf2-related CREBBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30733909_30733910insG	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3738dupG	16.37:g.30733915_30733915dupG	ENSP00000262518:p.Gly1245fs					SRCAP_ENST00000395059.2_Intron|SRCAP_ENST00000344771.4_Intron	p.AG1244fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		23	4117_4118	+			1244			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Ins	INS	ENST00000262518.4	37	c.3732_3733insG	CCDS10689.2																																																																																				0.614	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		7	364						7	364	---	---	---	---
PRSS36	146547	broad.mit.edu	37	16	31150581	31150582	+	Frame_Shift_Ins	INS	-	-	G	rs368480655		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:31150581_31150582insG	ENST00000268281.4	-	15	2503_2504	c.2445_2446insC	c.(2443-2448)cccagtfs	p.S816fs	PRSS36_ENST00000569305.1_Frame_Shift_Ins_p.S811fs|PRSS36_ENST00000418068.2_Frame_Shift_Ins_p.S713fs	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_ENST00000418068.2_Frame_Shift_Ins_p.W713fs|PRSS36_ENST00000569305.1_Frame_Shift_Ins_p.W811fs	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	294						7	294	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31422532	31422533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:31422532_31422533insG	ENST00000389202.2	+	13	1541_1542	c.1492_1493insG	c.(1492-1494)aggfs	p.R498fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	498					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						TCCCTTGCCTAGGGGGGTGAGT	0.629																																						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.(1492-1494)gggfs		integrin, alpha D				1,4263		0,1,2131						-8.3	0.0			80	0,8250		0,0,4125	no	frameshift	ITGAD	NM_005353.2		0,1,6256	A1A1,A1R,RR		0.0,0.0235,0.0080				1,12513				SO:0001589	frameshift_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422532_31422533insG	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.1497dupG	16.37:g.31422538_31422538dupG	ENSP00000373854:p.Arg498fs						p.G498fs	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			13	1541_1542	+			498					Q15575|Q15576	Frame_Shift_Ins	INS	ENST00000389202.2	37	c.1492_1493insG	CCDS32438.1																																																																																				0.629	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		7	554						7	554	---	---	---	---
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C	rs543306573	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-117)tgccccfs	p.CP38fs		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	38					cellular metal ion homeostasis (GO:0006875)		metal ion binding (GO:0046872)			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													CCCcCC|CCCCCC|CCCCCCC|insertion	3	0.000599042	0.0023	0.0	5008	,	,		18016	0.0		0.0	False		,,,				2504	0.0					ENST00000219162.3																			0				ovary(1)|upper_aerodigestive_tract(1)	2						c.(112-114)tccfs		metallothionein 4																																				SO:0001589	frameshift_variant	84560					cytoplasm	copper ion binding|zinc ion binding	g.chr16:56602768_56602769insC	BC113442	CCDS42165.1	16q13	2014-09-04	2007-01-26		ENSG00000102891	ENSG00000102891		"""Metallothioneins"""	18705	protein-coding gene	gene with protein product		606206	"""metallothionein IV"""			8003488	Standard	NM_032935		Approved	MTIV	uc002eje.1	P47944	OTTHUMG00000176863	ENST00000219162.3:c.119dupC	16.37:g.56602774_56602774dupC	ENSP00000219162:p.Cys38fs						p.S38fs	NM_032935.2	NP_116324.1	P47944	MT4_HUMAN			3	193_194	+			38					Q14DA1	Frame_Shift_Ins	INS	ENST00000219162.3	37	c.113_114insC	CCDS42165.1																																																																																				0.599	MT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434118.1	NM_032935		13	514						13	514	---	---	---	---
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C	rs539297455	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		9	278						9	278	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67290903	67290904	+	Frame_Shift_Ins	INS	-	-	G	rs35182421		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:67290903_67290904insG	ENST00000299798.11	+	7	1287_1288	c.1222_1223insG	c.(1222-1224)cggfs	p.R408fs		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	408					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.R408W(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGGGGGCCTGCGGGGGGCTGTG	0.559																																						ENST00000299798.11																			1	Substitution - Missense(1)	p.R408W(1)	kidney(1)	breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1222-1224)gggfs		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5																																				SO:0001589	frameshift_variant	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67290903_67290904insG		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1228dupG	16.37:g.67290909_67290909dupG	ENSP00000299798:p.Arg408fs						p.G408fs	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	7	1287_1288	+		Ovarian(137;0.0563)	408					A5PKY7|Q9Y626	Frame_Shift_Ins	INS	ENST00000299798.11	37	c.1222_1223insG	CCDS42178.1																																																																																				0.559	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			7	405						7	405	---	---	---	---
NPIPB15	440348	broad.mit.edu	37	16	74423894	74423895	+	Splice_Site	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:74423894_74423895insC	ENST00000429990.1	+	6	704_705	c.608_609insC	c.(607-612)atcccc>atCcccc	p.IP203fs				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	203						extracellular region (GO:0005576)											CTTTTTCAGATCCCCCCTTCTG	0.455																																						ENST00000429990.1																			0											c.e6-1		nuclear pore complex interacting protein family, member B15																																				SO:0001630	splice_region_variant	440348							g.chr16:74423894_74423895insC	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.607-1->C	16.37:g.74423900_74423900dupC							p.T203_splice							6	704_705	+								C9J9U8	Splice_Site	INS	ENST00000429990.1	37	c.606_splice																																																																																					0.455	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059	Frame_Shift_Ins	9	1048						9	1048	---	---	---	---
TLDC1	57707	broad.mit.edu	37	16	84514302	84514303	+	Frame_Shift_Ins	INS	-	-	C	rs549073767		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:84514302_84514303insC	ENST00000343629.6	-	7	1271_1272	c.1089_1090insG	c.(1087-1092)gggcagfs	p.Q364fs	TLDC1_ENST00000535580.1_Frame_Shift_Ins_p.Q337fs	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	364	TLD.					lysosomal membrane (GO:0005765)											TAATTGTGCTGCCCCCCCATAC	0.55																																						ENST00000343629.6																			0											c.(1087-1092)ggagcafs		TBC/LysM-associated domain containing 1																																				SO:0001589	frameshift_variant	57707							g.chr16:84514302_84514303insC	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1090dupG	16.37:g.84514309_84514309dupC	ENSP00000343635:p.Gln364fs					TLDC1_ENST00000535580.1_Frame_Shift_Ins_p.A337fs	p.A364fs	NM_020947.3	NP_065998.3					7	1271_1272	-								Q8IZ64|Q9HCG3|Q9NTE8	Frame_Shift_Ins	INS	ENST00000343629.6	37	c.1089_1090insG	CCDS32498.1																																																																																				0.550	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		9	141						9	141	---	---	---	---
ACSF3	197322	broad.mit.edu	37	16	89167125	89167125	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:89167125delG	ENST00000317447.4	+	3	413	c.36delG	c.(34-36)ctgfs	p.L12fs	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Frame_Shift_Del_p.L12fs	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	12					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TCCGGCGCCTGGGCTGCGCCT	0.677																																						ENST00000317447.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15						c.(34-36)ctfs		acyl-CoA synthetase family member 3							15.0	17.0	16.0					16																	89167125		2169	4246	6415	SO:0001589	frameshift_variant	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89167125delG	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.36delG	16.37:g.89167125delG	ENSP00000320646:p.Leu12fs					ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Frame_Shift_Del_p.L12fs	p.L12fs	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	3	413	+			12					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Frame_Shift_Del	DEL	ENST00000317447.4	37	c.36delG	CCDS10974.1																																																																																				0.677	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		11	12						11	12	---	---	---	---
ITGAE	3682	broad.mit.edu	37	17	3661032	3661033	+	Frame_Shift_Ins	INS	-	-	G	rs529179741		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:3661032_3661033insG	ENST00000263087.4	-	9	1085_1086	c.987_988insC	c.(985-990)cccaaafs	p.K330fs		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	330	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCCTGCATTTTGGGGGAGTTGA	0.594																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(985-990)ccaaatfs		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)																																				SO:0001589	frameshift_variant	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3661032_3661033insG	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.988dupC	17.37:g.3661037_3661037dupG	ENSP00000263087:p.Lys330fs						p.N330fs	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	9	1085_1086	-			330			VWFA.		Q17RS6|Q9NZU9	Frame_Shift_Ins	INS	ENST00000263087.4	37	c.987_988insC	CCDS32531.1																																																																																				0.594	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		8	1435						8	1435	---	---	---	---
PLD2	5338	broad.mit.edu	37	17	4719138	4719139	+	Frame_Shift_Ins	INS	-	-	G	rs368018438		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:4719138_4719139insG	ENST00000263088.6	+	14	1495_1496	c.1364_1365insG	c.(1363-1368)ctggggfs	p.LG455fs	PLD2_ENST00000572940.1_Frame_Shift_Ins_p.LG455fs	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	455	Catalytic.|PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GTAGCATTCCTGGGGGGACTGG	0.594											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1363-1365)cggfs		phospholipase D2	Choline(DB00122)																																			SO:0001589	frameshift_variant	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4719138_4719139insG	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1370dupG	17.37:g.4719144_4719144dupG	ENSP00000263088:p.Leu455fs		OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	621	PLD2_ENST00000572940.1_Frame_Shift_Ins_p.R455fs	p.R455fs	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			14	1495_1496	+			455			Catalytic.|PLD phosphodiesterase 1.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Frame_Shift_Ins	INS	ENST00000263088.6	37	c.1364_1365insG	CCDS11057.1																																																																																				0.594	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		12	743						12	743	---	---	---	---
WSCD1	23302	broad.mit.edu	37	17	6012978	6012979	+	Frame_Shift_Ins	INS	-	-	C	rs41314099	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:6012978_6012979insC	ENST00000574946.1	+	6	1291_1292	c.901_902insC	c.(901-903)accfs	p.T301fs	WSCD1_ENST00000317744.5_Frame_Shift_Ins_p.T301fs|WSCD1_ENST00000539421.1_Frame_Shift_Ins_p.T301fs|WSCD1_ENST00000573634.1_Frame_Shift_Ins_p.T185fs|WSCD1_ENST00000574232.1_Frame_Shift_Ins_p.T301fs			Q658N2	WSCD1_HUMAN	WSC domain containing 1	301	WSC 2. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TGCTTACCCTACCCCCCGGTTC	0.564																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(901-903)cccfs		WSC domain containing 1																																				SO:0001589	frameshift_variant	23302					integral to membrane	sulfotransferase activity	g.chr17:6012978_6012979insC		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.907dupC	17.37:g.6012984_6012984dupC	ENSP00000460825:p.Thr301fs					WSCD1_ENST00000574232.1_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000317744.5_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000573634.1_Frame_Shift_Ins_p.P185fs|WSCD1_ENST00000539421.1_Frame_Shift_Ins_p.P301fs	p.P301fs			Q658N2	WSCD1_HUMAN			6	1291_1292	+			301			WSC 2.		A8K0N8|D3DTM3|O60276|Q96G45	Frame_Shift_Ins	INS	ENST00000574946.1	37	c.901_902insC	CCDS32538.1																																																																																				0.564	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		18	1970						18	1970	---	---	---	---
TMEM256-PLSCR3	100529211	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C	rs534765323		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:7294058_7294059insC	ENST00000576362.1	-	6	810_811	c.653_654insG	c.(652-654)ggcfs	p.G218fs	TMEM256-PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000535512.1_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.G242fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR					TMEM256-PLSCR3 readthrough (NMD candidate)																		CTCGGACCAGGCCCCCCCACTG	0.614																																						ENST00000535512.1																			0				endometrium(1)|kidney(2)|urinary_tract(1)	4						c.(724-726)gctfs		phospholipid scramblase 3																																				SO:0001589	frameshift_variant	57048				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding	g.chr17:7294058_7294059insC			17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.654dupG	17.37:g.7294065_7294065dupC	ENSP00000460800:p.Gly218fs					PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR	p.A242fs			Q9NRY6	PLS3_HUMAN			10	1742_1743	-		Prostate(122;0.173)	242						Frame_Shift_Ins	INS	ENST00000576362.1	37	c.725_726insG																																																																																					0.614	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000440808.1			15	430						15	430	---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10542204	10542205	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:10542204_10542205insC	ENST00000583535.1	-	26	3411_3412	c.3324_3325insG	c.(3322-3327)aaaatcfs	p.I1109fs	MYH3_ENST00000226209.7_Frame_Shift_Ins_p.I1109fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1109					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AACTCTTTGATTTTCTTCTGAA	0.431																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(3322-3327)aatcaafs		myosin, heavy chain 3, skeletal muscle, embryonic																																				SO:0001589	frameshift_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10542204_10542205insC		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3324_3325insG	17.37:g.10542204_10542205insC	ENSP00000464317:p.Ile1109fs					MYH3_ENST00000226209.7_Frame_Shift_Ins_p.NQ1108fs	p.NQ1108fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			26	3411_3412	-			1108					Q15492	Frame_Shift_Ins	INS	ENST00000583535.1	37	c.3324_3325insG	CCDS11157.1																																																																																				0.431	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		8	71						8	71	---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10555835	10555836	+	Frame_Shift_Ins	INS	-	-	G	rs139160750		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:10555835_10555836insG	ENST00000583535.1	-	4	336_337	c.249_250insC	c.(247-252)cccaagfs	p.K84fs	MYH3_ENST00000226209.7_Frame_Shift_Ins_p.K84fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	84					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGTCGAACTTGGGGGGGTTCA	0.495																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(247-252)ccagttfs		myosin, heavy chain 3, skeletal muscle, embryonic																																				SO:0001589	frameshift_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10555835_10555836insG		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.250dupC	17.37:g.10555842_10555842dupG	ENSP00000464317:p.Lys84fs					MYH3_ENST00000226209.7_Frame_Shift_Ins_p.V84fs	p.V84fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			4	336_337	-			84			Myosin head-like.		Q15492	Frame_Shift_Ins	INS	ENST00000583535.1	37	c.249_250insC	CCDS11157.1																																																																																				0.495	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		58	565						58	565	---	---	---	---
SLC47A1	55244	broad.mit.edu	37	17	19459097	19459098	+	Intron	INS	-	-	C	rs373281364		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:19459097_19459098insC	ENST00000270570.4	+	9	825				SNORA59B_ENST00000458926.1_RNA|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000395585.1_Intron|SLC47A1_ENST00000571335.1_Frame_Shift_Ins_p.VP48fs|SLC47A1_ENST00000457293.1_Intron|SLC47A1_ENST00000436810.2_Intron	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1						organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	AATGTGTGTGTCCCCCCCACAG	0.599																																						ENST00000571335.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(142-144)gccfs		solute carrier family 47 (multidrug and toxin extrusion), member 1				9,4255		0,9,2123						4.7	0.1			54	7,8247		0,7,4120	no	intron	SLC47A1	NM_018242.2		0,16,6243	A1A1,A1R,RR		0.0848,0.2111,0.1278				16,12502				SO:0001627	intron_variant	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19459097_19459098insC		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.740-11->C	17.37:g.19459104_19459104dupC						SLC47A1_ENST00000436810.2_Intron|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000270570.4_Intron|SLC47A1_ENST00000457293.1_Intron|SLC47A1_ENST00000395585.1_Intron|SLC47A1_ENST00000542886.1_Intron	p.A48fs			Q96FL8	S47A1_HUMAN			7	563_564	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		0					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Frame_Shift_Ins	INS	ENST00000270570.4	37	c.143_144insC	CCDS11209.1																																																																																				0.599	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		12	390						12	390	---	---	---	---
PHF12	57649	broad.mit.edu	37	17	27233908	27233909	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:27233908_27233909insG	ENST00000332830.4	-	14	3455_3456	c.2645_2646insC	c.(2644-2646)ccafs	p.P882fs	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAATACTGCTTGGGGGGGTTGG	0.51																																						ENST00000332830.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(2644-2646)cagfs		PHD finger protein 12																																				SO:0001589	frameshift_variant	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27233908_27233909insG	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2646dupC	17.37:g.27233915_27233915dupG	ENSP00000329933:p.Pro882fs					PHF12_ENST00000577226.1_3'UTR	p.Q882fs	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		14	3455_3456	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		882						Frame_Shift_Ins	INS	ENST00000332830.4	37	c.2645_2646insC	CCDS32598.1																																																																																				0.510	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		14	199						14	199	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G	rs376316249		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)ccafs	p.P919fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.P946fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					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						ATGAATGTTCTGGGGGGGCTTC	0.48																																						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.(2755-2757)cgafs		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.chr17:27959374_27959375insG	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.2757dupC	17.37:g.27959381_27959381dupG	ENSP00000269033:p.Pro919fs					SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs|RP11-68I3.2_ENST00000581474.1_RNA	p.R919fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			15	2907_2908	-			919					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.2756_2757insC	CCDS11253.1																																																																																				0.480	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		42	901						42	901	---	---	---	---
SLC6A4	6532	broad.mit.edu	37	17	28544271	28544272	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:28544271_28544272insC	ENST00000401766.2	-	5	1261_1262	c.749_750insG	c.(748-750)ggcfs	p.G250fs	SLC6A4_ENST00000261707.3_Frame_Shift_Ins_p.G250fs			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	250					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	GCCAGCTGATGCCCCCCAGGTC	0.584																																						ENST00000401766.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(748-750)gatfs		solute carrier family 6 (neurotransmitter transporter), member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)																																			SO:0001589	frameshift_variant	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28544271_28544272insC	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.750dupG	17.37:g.28544277_28544277dupC	ENSP00000385822:p.Gly250fs					SLC6A4_ENST00000261707.3_Frame_Shift_Ins_p.D250fs	p.D250fs			P31645	SC6A4_HUMAN			5	1261_1262	-			250					Q5EE02	Frame_Shift_Ins	INS	ENST00000401766.2	37	c.749_750insG	CCDS11256.1																																																																																				0.584	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		7	767						7	767	---	---	---	---
UTP6	55813	broad.mit.edu	37	17	30195101	30195101	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:30195101delG	ENST00000261708.4	-	17	1664	c.1527delC	c.(1525-1527)gacfs	p.D509fs		NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	509					rRNA processing (GO:0006364)	nucleolus (GO:0005730)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TCCTGAAAAAGTCAACTGAAA	0.348																																						ENST00000261708.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21						c.(1525-1527)gafs		UTP6, small subunit (SSU) processome component, homolog (yeast)							81.0	79.0	80.0					17																	30195101		2203	4300	6503	SO:0001589	frameshift_variant	55813				rRNA processing	nucleolus	binding	g.chr17:30195101delG	AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated antigen 66"""		"""chromosome 17 open reading frame 40"""	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.1527delC	17.37:g.30195101delG	ENSP00000261708:p.Asp509fs						p.D509fs	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN			17	1664	-		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)	509					Q8IX96|Q96BL2|Q9NQ91	Frame_Shift_Del	DEL	ENST00000261708.4	37	c.1527delC	CCDS11269.1																																																																																				0.348	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428		11	124						11	124	---	---	---	---
ASIC2	40	broad.mit.edu	37	17	31439004	31439005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:31439004_31439005insC	ENST00000359872.6	-	2	1397_1398	c.636_637insG	c.(634-639)gggacafs	p.T213fs	ASIC2_ENST00000448983.1_5'UTR|RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000225823.2_Frame_Shift_Ins_p.T264fs	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	213					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CCGTTGCCTGTCCCCCCCTTGA	0.55																																						ENST00000225823.2																			0											c.(787-792)ggcaggfs		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)																																			SO:0001589	frameshift_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31439004_31439005insC	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.637dupG	17.37:g.31439011_31439011dupC	ENSP00000352934:p.Thr213fs					ASIC2_ENST00000448983.1_5'UTR|RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000359872.6_Frame_Shift_Ins_p.R213fs	p.R264fs	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN			2	1661_1662	-			213					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Frame_Shift_Ins	INS	ENST00000359872.6	37	c.789_790insG	CCDS42296.1																																																																																				0.550	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		7	266						7	266	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35487100	35487101	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:35487100_35487101insC	ENST00000394406.2	-	46	5802_5803	c.5612_5613insG	c.(5611-5613)ggcfs	p.G1871fs	ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.G1813fs|ACACA_ENST00000353139.5_Frame_Shift_Ins_p.G1908fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.G1793fs	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1871	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAATCTGGATGCCCCCCAGCTG	0.495																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(5722-5724)gatfs		acetyl-CoA carboxylase alpha	Biotin(DB00121)																																			SO:0001589	frameshift_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35487100_35487101insC	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5613dupG	17.37:g.35487106_35487106dupC	ENSP00000377928:p.Gly1871fs					ACACA_ENST00000335166.5_Frame_Shift_Ins_p.D1793fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.D1813fs|ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.D1871fs	p.D1908fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			46	6204_6205	-		Breast(25;0.00157)|Ovarian(249;0.15)	1871			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Frame_Shift_Ins	INS	ENST00000394406.2	37	c.5723_5724insG	CCDS11317.1																																																																																				0.495	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		8	672						8	672	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:35600370_35600371insG	ENST00000394406.2	-	22	2926_2927	c.2736_2737insC	c.(2734-2739)cccaatfs	p.N913fs	ACACA_ENST00000360679.3_Frame_Shift_Ins_p.N855fs|ACACA_ENST00000353139.5_Frame_Shift_Ins_p.N950fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.N835fs	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.47																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(2845-2850)ccatgtfs		acetyl-CoA carboxylase alpha	Biotin(DB00121)																																			SO:0001589	frameshift_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35600370_35600371insG	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2737dupC	17.37:g.35600376_35600376dupG	ENSP00000377928:p.Asn913fs					ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs	p.C950fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			22	3328_3329	-		Breast(25;0.00157)|Ovarian(249;0.15)	913					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Frame_Shift_Ins	INS	ENST00000394406.2	37	c.2847_2848insC	CCDS11317.1																																																																																				0.470	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		18	1378						18	1378	---	---	---	---
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-	rs148510452|rs556262610	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)ggadel	p.G24del	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544). {ECO:0000305}.	cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547																																						ENST00000269576.5																			0				NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11						c.(70-72)del		keratin 10			,,,	689,7,3556		198,0,293,0,7,1628					,,,	3.0	0.1		dbSNP_134	51	1494,8,6750		368,0,758,0,8,2992	no	intron,intron,intron,codingComplex	KRT10,TMEM99	NM_145274.3,NM_001195387.1,NM_001195386.1,NM_000421.3	,,,	566,0,1051,0,15,4620	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2016,16.3688,17.5784	,,,	,,,		2183,15,10306				SO:0001651	inframe_deletion	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38978766_38978768delTCC	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.70_72delGGA	17.37:g.38978775_38978777delTCC	ENSP00000269576:p.Gly24del					TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	p.G24del	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN			1	79_81	-		Breast(137;0.000301)	24	Missing (in Ref. 1; AAA60544).		Gly-rich.|Head.		Q14664|Q8N175	In_Frame_Del	DEL	ENST00000269576.5	37	c.70_72delGGA	CCDS11377.1																																																																																				0.547	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		12	146						12	146	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40312168	40312169	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:40312168_40312169insG	ENST00000264661.3	-	16	3275_3276	c.2943_2944insC	c.(2941-2946)ccctacfs	p.Y982fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.Y982fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	982					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTGAGGGGTAGGGGGGCAATA	0.604																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(2941-2946)ccacccfs		potassium voltage-gated channel, subfamily H (eag-related), member 4																																				SO:0001589	frameshift_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40312168_40312169insG	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2944dupC	17.37:g.40312174_40312174dupG	ENSP00000264661:p.Tyr982fs					KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.P982fs	p.P982fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	16	3275_3276	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	982						Frame_Shift_Ins	INS	ENST00000264661.3	37	c.2943_2944insC	CCDS11420.1																																																																																				0.604	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		8	177						8	177	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)gggtctfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(640-645)ggctcgfs		potassium voltage-gated channel, subfamily H (eag-related), member 4																																				SO:0001589	frameshift_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40328258_40328259insC	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.643dupG	17.37:g.40328265_40328265dupC	ENSP00000264661:p.Ser215fs					KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	974_975	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	215						Frame_Shift_Ins	INS	ENST00000264661.3	37	c.642_643insG	CCDS11420.1																																																																																				0.604	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		9	240						9	240	---	---	---	---
TUBG1	7283	broad.mit.edu	37	17	40764471	40764472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:40764471_40764472insG	ENST00000251413.3	+	5	488_489	c.426_427insG	c.(427-429)gggfs	p.G143fs	FAM134C_ENST00000585894.1_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	143					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	ACTCCATTGCTGGGGGGACAGG	0.505																																					Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(424-429)gcggggfs		tubulin, gamma 1																																				SO:0001589	frameshift_variant	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40764471_40764472insG	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.432dupG	17.37:g.40764477_40764477dupG	ENSP00000251413:p.Gly143fs						p.AG142fs	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	5	488_489	+		Breast(137;0.00116)	142					Q53X79|Q9BW59	Frame_Shift_Ins	INS	ENST00000251413.3	37	c.426_427insG	CCDS11433.1																																																																																				0.505	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		17	1728						17	1728	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)cccaagfs	p.K21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.K21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569																																						ENST00000323456.5																			1	Insertion - Frameshift(1)	p.K21fs*20(1)	large_intestine(1)	breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(58-63)ccaggafs		myotubularin related protein 4																																				SO:0001589	frameshift_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56590245_56590246insG	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.61dupC	17.37:g.56590252_56590252dupG	ENSP00000325285:p.Lys21fs					MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	p.G21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			3	184_185	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		21					D3DTZ6|Q8IV27|Q9Y4D5	Frame_Shift_Ins	INS	ENST00000323456.5	37	c.60_61insC	CCDS11608.1																																																																																				0.569	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		10	218						10	218	---	---	---	---
KIAA0195	9772	broad.mit.edu	37	17	73493880	73493881	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:73493880_73493881insC	ENST00000314256.7	+	27	3820_3821	c.3426_3427insC	c.(3427-3429)cccfs	p.P1143fs	KIAA0195_ENST00000579208.1_Frame_Shift_Ins_p.P794fs|AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Frame_Shift_Ins_p.P1153fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1143						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCTGGGGAAGCCCCCCCATAG	0.52																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(3424-3429)aaccccfs		KIAA0195																																				SO:0001589	frameshift_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73493880_73493881insC		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3433dupC	17.37:g.73493887_73493887dupC	ENSP00000313885:p.Pro1143fs					KIAA0195_ENST00000375248.5_Frame_Shift_Ins_p.NP1152fs|KIAA0195_ENST00000579208.1_Frame_Shift_Ins_p.NP793fs	p.NP1142fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		27	3820_3821	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1142					O75536|Q86XF1	Frame_Shift_Ins	INS	ENST00000314256.7	37	c.3426_3427insC	CCDS32732.1																																																																																				0.520	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		51	926						51	926	---	---	---	---
EXOC7	23265	broad.mit.edu	37	17	74087246	74087247	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:74087246_74087247insC	ENST00000335146.7	-	7	931_932	c.878_879insG	c.(877-879)ggcfs	p.G293fs	EXOC7_ENST00000607838.1_Frame_Shift_Ins_p.G293fs|EXOC7_ENST00000589210.1_Frame_Shift_Ins_p.G293fs|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000411744.2_Intron|EXOC7_ENST00000467929.2_Frame_Shift_Ins_p.G252fs|EXOC7_ENST00000405575.4_Frame_Shift_Ins_p.G293fs			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	293					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGAGGTTAGAGCCCCCCTTTTT	0.554																																						ENST00000607838.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(877-879)gtcfs		exocyst complex component 7																																				SO:0001589	frameshift_variant	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74087246_74087247insC	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.879dupG	17.37:g.74087252_74087252dupC	ENSP00000334100:p.Gly293fs					EXOC7_ENST00000405575.4_Frame_Shift_Ins_p.V293fs|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000467929.2_Frame_Shift_Ins_p.V252fs|EXOC7_ENST00000335146.7_Frame_Shift_Ins_p.V293fs|EXOC7_ENST00000589210.1_Frame_Shift_Ins_p.V293fs|EXOC7_ENST00000411744.2_Intron	p.V293fs	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		7	972_973	-			293					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Frame_Shift_Ins	INS	ENST00000335146.7	37	c.878_879insG	CCDS45782.1																																																																																				0.554	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		9	1065						9	1065	---	---	---	---
USP36	57602	broad.mit.edu	37	17	76799860	76799861	+	Frame_Shift_Ins	INS	-	-	G	rs3088040|rs537129179	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:76799860_76799861insG	ENST00000542802.3	-	16	2859_2860	c.2416_2417insC	c.(2416-2418)cagfs	p.Q806fs	USP36_ENST00000449938.2_Intron|USP36_ENST00000312010.6_Frame_Shift_Ins_p.Q806fs			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	806			Q -> R (in dbSNP:rs3088040). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			AGAGGGGCTCTGGGGGGGCTCA	0.629																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(2416-2418)gagfs		ubiquitin specific peptidase 36																																				SO:0001589	frameshift_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76799860_76799861insG	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2417dupC	17.37:g.76799867_76799867dupG	ENSP00000441214:p.Gln806fs					USP36_ENST00000449938.2_Intron|USP36_ENST00000542802.2_Frame_Shift_Ins_p.E806fs	p.E806fs	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		16	2740_2741	-			806		Q -> R (in dbSNP:rs3088040).			Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Frame_Shift_Ins	INS	ENST00000542802.3	37	c.2416_2417insC	CCDS32755.1																																																																																				0.629	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		8	270						8	270	---	---	---	---
LRRC30	339291	broad.mit.edu	37	18	7232028	7232028	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:7232028delA	ENST00000383467.2	+	1	906	c.892delA	c.(892-894)aaafs	p.K299fs		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	299										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTGAAGGACAAAAAACACAC	0.572																																						ENST00000383467.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(892-894)aafs		leucine rich repeat containing 30							93.0	101.0	99.0					18																	7232028		1928	4139	6067	SO:0001589	frameshift_variant	339291							g.chr18:7232028delA		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.892delA	18.37:g.7232028delA	ENSP00000372959:p.Lys299fs						p.K299fs	NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN			1	906	+			299						Frame_Shift_Del	DEL	ENST00000383467.2	37	c.892delA	CCDS42409.1																																																																																				0.572	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		47	220						47	220	---	---	---	---
CTDP1	9150	broad.mit.edu	37	18	77473039	77473040	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:77473039_77473040insC	ENST00000299543.7	+	7	1078_1079	c.931_932insC	c.(931-933)gccfs	p.A311fs	CTDP1_ENST00000075430.7_Frame_Shift_Ins_p.A311fs	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	311	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CTGGAAGTTTGCCCCCAATCTG	0.411																																						ENST00000299543.7																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35						c.(931-933)cccfs		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1																																				SO:0001589	frameshift_variant	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77473039_77473040insC	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.936dupC	18.37:g.77473044_77473044dupC	ENSP00000299543:p.Ala311fs					CTDP1_ENST00000075430.7_Frame_Shift_Ins_p.P311fs	p.P311fs	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	7	1078_1079	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	311			FCP1 homology.		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Frame_Shift_Ins	INS	ENST00000299543.7	37	c.931_932insC	CCDS12017.1																																																																																				0.411	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		8	1349						8	1349	---	---	---	---
CNN2	1265	broad.mit.edu	37	19	1036501	1036502	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:1036501_1036502insC	ENST00000263097.4	+	6	957_958	c.594_595insC	c.(595-597)cccfs	p.P199fs	CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Frame_Shift_Ins_p.P188fs|CNN2_ENST00000348419.3_Frame_Shift_Ins_p.P160fs|CNN2_ENST00000562958.2_Frame_Shift_Ins_p.P220fs|AC011558.5_ENST00000585757.1_RNA	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	199				RRHLYDPKNHILPPMD -> AGISMTPRTISCPPWT (in Ref. 6; BAA20887). {ECO:0000305}.	actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCATATCCTGCCCCCCATGGA	0.639																																						ENST00000263097.4																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10						c.(592-597)ctccccfs		calponin 2																																				SO:0001589	frameshift_variant	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1036501_1036502insC	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.600dupC	19.37:g.1036507_1036507dupC	ENSP00000263097:p.Pro199fs					CNN2_ENST00000562958.2_Frame_Shift_Ins_p.LP219fs|CNN2_ENST00000565096.2_Frame_Shift_Ins_p.LP187fs|CNN2_ENST00000348419.3_Frame_Shift_Ins_p.LP159fs|CNN2_ENST00000606983.1_3'UTR	p.LP198fs	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	957_958	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	198	RRHLYDPKNHILPPMD -> AGISMTPRTISCPPWT (in Ref. 4; BAA20887).				A5D8U8|A6NFI4|D6W5X9|Q92578	Frame_Shift_Ins	INS	ENST00000263097.4	37	c.594_595insC	CCDS12053.1																																																																																				0.639	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		7	798						7	798	---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:6755179_6755180insG	ENST00000245908.6	-	5	912_913	c.643_644insC	c.(643-645)cggfs	p.R215fs	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.R93fs	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	215					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGAGGGTGTCCGGGGGGGCTTC	0.653																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(643-645)gacfs		SH2 domain containing 3A																																				SO:0001589	frameshift_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6755179_6755180insG	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.644dupC	19.37:g.6755186_6755186dupG	ENSP00000245908:p.Arg215fs					SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs	p.D215fs	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			5	912_913	-			215					A8K9R6|B4DRS7|Q9Y2X4	Frame_Shift_Ins	INS	ENST00000245908.6	37	c.643_644insC	CCDS12173.1																																																																																				0.653	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		18	295						18	295	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G	rs558504850	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		8	262						8	262	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G	rs369470867		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		16	444						16	444	---	---	---	---
QTRT1	81890	broad.mit.edu	37	19	10822871	10822872	+	Frame_Shift_Ins	INS	-	-	G	rs141223779	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:10822871_10822872insG	ENST00000250237.5	+	6	691_692	c.681_682insG	c.(682-684)gggfs	p.G228fs		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	228					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)	p.G228R(2)		large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GCTTCGCCATCGGGGGCCTGAG	0.614																																						ENST00000250237.5																			2	Substitution - Missense(2)	p.G228R(2)	lung(2)	large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(679-684)atggggfs		queuine tRNA-ribosyltransferase 1																																				SO:0001589	frameshift_variant	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10822871_10822872insG	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.686dupG	19.37:g.10822876_10822876dupG	ENSP00000250237:p.Gly228fs						p.MG227fs	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		6	691_692	+			227					B4DFM7|Q96BQ4|Q9BXQ9	Frame_Shift_Ins	INS	ENST00000250237.5	37	c.681_682insG	CCDS12248.1																																																																																				0.614	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		7	923						7	923	---	---	---	---
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:11488680_11488681insG	ENST00000222139.6	-	8	1610_1611	c.1506_1507insC	c.(1504-1509)cccagcfs	p.S503fs	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	503					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	GCCACATAGCTGGGGGGCAGAG	0.569											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222139.6																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(1504-1509)ccgctafs		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)																																			SO:0001589	frameshift_variant	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11488680_11488681insG	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.1507dupC	19.37:g.11488686_11488686dupG	ENSP00000222139:p.Ser503fs		OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	672	EPOR_ENST00000592375.2_3'UTR	p.L503fs	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN			8	1610_1611	-			503					B2RCG4|Q15443|Q2M205	Frame_Shift_Ins	INS	ENST00000222139.6	37	c.1506_1507insC	CCDS12260.1																																																																																				0.569	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			9	412						9	412	---	---	---	---
ZNF823	55552	broad.mit.edu	37	19	11833874	11833875	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:11833874_11833875insG	ENST00000341191.6	-	4	627_628	c.474_475insC	c.(472-477)cccaccfs	p.T159fs	ZNF823_ENST00000545749.1_5'UTR|CTC-499B15.6_ENST00000586983.1_RNA	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	159					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(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TTCTTTCCGGTGGGGGGCCTTT	0.47										HNSCC(68;0.2)																												ENST00000341191.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						c.(472-477)ccccggfs		zinc finger protein 823																																				SO:0001589	frameshift_variant	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11833874_11833875insG	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.475dupC	19.37:g.11833880_11833880dupG	ENSP00000340683:p.Thr159fs	HNSCC(68;0.2)				ZNF823_ENST00000545749.1_5'UTR	p.R159fs	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN			4	627_628	-			159					A0PJL4|B7Z8D4|Q6P4A9	Frame_Shift_Ins	INS	ENST00000341191.6	37	c.474_475insC	CCDS45981.1																																																																																				0.470	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		8	326						8	326	---	---	---	---
C19orf53	28974	broad.mit.edu	37	19	13882967	13882968	+	5'Flank	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:13882967_13882968insC	ENST00000588234.1	+	0	0				CTB-5E10.3_ENST00000586894.1_RNA|MRI1_ENST00000040663.6_Frame_Shift_Ins_p.T328fs|CTB-5E10.3_ENST00000586297.1_RNA|MRI1_ENST00000319545.8_Frame_Shift_Ins_p.T281fs|C19orf53_ENST00000593274.1_5'Flank|CTB-5E10.3_ENST00000591826.1_RNA	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53											breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			CTTCGATGTCACCCCCCACGAC	0.554																																						ENST00000319545.8																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						c.(841-843)cccfs		methylthioribose-1-phosphate isomerase 1																																				SO:0001631	upstream_gene_variant	84245				L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity	g.chr19:13882967_13882968insC	AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"""leydig cell tumor 10 kDa protein homolog"""					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5			19.37:g.13882973_13882973dupC	Exception_encountered					CTB-5E10.3_ENST00000586894.1_RNA|MRI1_ENST00000040663.6_Frame_Shift_Ins_p.P328fs	p.P281fs	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN			6	898_899	+			328					B2R4J9	Frame_Shift_Ins	INS	ENST00000588234.1	37	c.841_842insC	CCDS12298.1																																																																																				0.554	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453621.1	NM_014047		7	344						7	344	---	---	---	---
EMR3	84658	broad.mit.edu	37	19	14774330	14774331	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:14774330_14774331insG	ENST00000253673.5	-	3	198_199	c.98_99insC	c.(97-99)ccafs	p.P33fs	EMR3_ENST00000344373.4_Frame_Shift_Ins_p.P33fs|EMR3_ENST00000443157.2_Frame_Shift_Ins_p.P33fs|EMR3_ENST00000599900.1_5'UTR	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		21	790						21	790	---	---	---	---
SLC1A6	6511	broad.mit.edu	37	19	15067446	15067447	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:15067446_15067447insC	ENST00000221742.3	-	6	1017_1018	c.1010_1011insG	c.(1009-1011)ggtfs	p.G337fs	SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000430939.2_Frame_Shift_Ins_p.G273fs	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	337					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TGCCCAGCTGACCCCCCAGGAC	0.584																																						ENST00000430939.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(817-819)gcafs		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15067446_15067447insC		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1011dupG	19.37:g.15067452_15067452dupC	ENSP00000221742:p.Gly337fs					SLC1A6_ENST00000221742.3_Frame_Shift_Ins_p.A337fs|SLC1A6_ENST00000600144.1_Intron	p.A273fs			P48664	EAA4_HUMAN			6	947_948	-			337					Q8N753	Frame_Shift_Ins	INS	ENST00000221742.3	37	c.818_819insG	CCDS12321.1																																																																																				0.584	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		7	523						7	523	---	---	---	---
WIZ	58525	broad.mit.edu	37	19	15537825	15537826	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:15537825_15537826insC	ENST00000389282.4	-	6	3832_3833	c.3619_3620insG	c.(3619-3621)gcafs	p.A1207fs	WIZ_ENST00000599686.3_Frame_Shift_Ins_p.A391fs|WIZ_ENST00000599910.2_Frame_Shift_Ins_p.A524fs|WIZ_ENST00000263381.7_Frame_Shift_Ins_p.A350fs|WIZ_ENST00000545156.1_Frame_Shift_Ins_p.A521fs			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1207					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TTCCCGTGGTGCCCCCCAGGGA	0.614																																						ENST00000389282.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(3619-3621)accfs		widely interspaced zinc finger motifs																																				SO:0001589	frameshift_variant	58525					nucleus	zinc ion binding	g.chr19:15537825_15537826insC	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.3620dupG	19.37:g.15537831_15537831dupC	ENSP00000373933:p.Ala1207fs					WIZ_ENST00000599910.1_Frame_Shift_Ins_p.T524fs|WIZ_ENST00000545156.1_Frame_Shift_Ins_p.T521fs|WIZ_ENST00000263381.6_Frame_Shift_Ins_p.T350fs|WIZ_ENST00000599686.2_Frame_Shift_Ins_p.T391fs	p.T1207fs			O95785	WIZ_HUMAN			6	3832_3833	-			1207					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Frame_Shift_Ins	INS	ENST00000389282.4	37	c.3619_3620insG																																																																																					0.614	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		11	1161						11	1161	---	---	---	---
C19orf44	84167	broad.mit.edu	37	19	16633993	16633994	+	IGR	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:16633993_16633994insG	ENST00000221671.3	+	0	3427				CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Frame_Shift_Ins_p.H628fs|CHERP_ENST00000546361.2_Frame_Shift_Ins_p.H617fs	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GTTGAAGCCATGGGGGGGAGGG	0.673																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1849-1851)tggfs		calcium homeostasis endoplasmic reticulum protein																																				SO:0001628	intergenic_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16633993_16633994insG	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5			19.37:g.16634000_16634000dupG						CHERP_ENST00000198939.6_Frame_Shift_Ins_p.W628fs|CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron	p.W617fs	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			11	2000_2001	-			617			Pro-rich.		Q8N6Y7	Frame_Shift_Ins	INS	ENST00000221671.3	37	c.1849_1850insC	CCDS12345.1																																																																																				0.673	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		12	283						12	283	---	---	---	---
MPV17L2	84769	broad.mit.edu	37	19	18305818	18305819	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:18305818_18305819insC	ENST00000599612.2	+	4	586_587	c.486_487insC	c.(487-489)cccfs	p.P163fs		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	163						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						TCCTCTTCGTGCCCCCCCAATT	0.653																																						ENST00000599612.2																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(484-489)gtccccfs		MPV17 mitochondrial membrane protein-like 2																																				SO:0001589	frameshift_variant	84769					integral to membrane		g.chr19:18305818_18305819insC	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.493dupC	19.37:g.18305825_18305825dupC	ENSP00000469836:p.Pro163fs					MPV17L2_ENST00000534474.2_Frame_Shift_Ins_p.P137fs	p.VP162fs	NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN			4	586_587	+			162					Q96P34|Q96QA0|Q9BSG4	Frame_Shift_Ins	INS	ENST00000599612.2	37	c.486_487insC	CCDS42522.1																																																																																				0.653	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	NM_032683		11	198						11	198	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)gggcttfs	p.L520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.5																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1555-1560)ggttgafs		teashirt zinc finger homeobox 3																																				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769141_31769142insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1558dupG	19.37:g.31769148_31769148dupC	ENSP00000240587:p.Leu520fs						p.*520fs	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1884_1885	-	Esophageal squamous(110;0.226)		520					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1557_1558insG	CCDS12421.2																																																																																				0.500	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		47	940						47	940	---	---	---	---
HKR1	284459	broad.mit.edu	37	19	37854401	37854405	+	Frame_Shift_Del	DEL	GTTTA	GTTTA	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:37854401_37854405delGTTTA	ENST00000324411.4	+	6	1973_1977	c.1704_1708delGTTTA	c.(1702-1710)ctgtttaggfs	p.FR569fs	HKR1_ENST00000591471.1_Frame_Shift_Del_p.FR296fs|HKR1_ENST00000392153.3_Frame_Shift_Del_p.FR550fs|HKR1_ENST00000544914.1_Frame_Shift_Del_p.FR296fs|HKR1_ENST00000589392.1_Frame_Shift_Del_p.FR551fs|HKR1_ENST00000541583.2_Frame_Shift_Del_p.FR508fs|HKR1_ENST00000591134.1_Intron	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	569					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCCTAACCTGTTTAGGCACAAGAG	0.502																																						ENST00000591471.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(883-891)ctggfs		HKR1, GLI-Kruppel zinc finger family member																																				SO:0001589	frameshift_variant	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37854401_37854405delGTTTA	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1704_1708delGTTTA	19.37:g.37854401_37854405delGTTTA	ENSP00000315505:p.Phe569fs					HKR1_ENST00000591134.1_Intron|HKR1_ENST00000324411.4_Frame_Shift_Del_p.LFR568fs|HKR1_ENST00000589392.1_Frame_Shift_Del_p.LFR550fs|HKR1_ENST00000544914.1_Frame_Shift_Del_p.LFR295fs|HKR1_ENST00000392153.3_Frame_Shift_Del_p.LFR549fs|HKR1_ENST00000541583.2_Frame_Shift_Del_p.LFR507fs	p.LFR295fs			P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		9	2526_2530	+			568					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Frame_Shift_Del	DEL	ENST00000324411.4	37	c.885_889delGTTTA	CCDS12502.1																																																																																				0.502	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		8	60						8	60	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40433821	40433822	+	Frame_Shift_Ins	INS	-	-	G	rs375117067		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:40433821_40433822insG	ENST00000221347.6	-	2	454_455	c.447_448insC	c.(445-450)cccggcfs	p.G150fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	150	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGAGGTGCCGGGGGGTGTGA	0.604																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(445-450)ccgcacfs		Fc fragment of IgG binding protein																																				SO:0001589	frameshift_variant	8857					extracellular region	protein binding	g.chr19:40433821_40433822insG	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.448dupC	19.37:g.40433827_40433827dupG	ENSP00000221347:p.Gly150fs						p.H150fs	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	454_455	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		150			IgGFc-binding.		O95784	Frame_Shift_Ins	INS	ENST00000221347.6	37	c.447_448insC	CCDS12546.1																																																																																				0.604	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		9	339						9	339	---	---	---	---
C19orf47	126526	broad.mit.edu	37	19	40834398	40834399	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:40834398_40834399insG	ENST00000582783.1	-	6	483_484	c.471_472insC	c.(469-474)cccaggfs	p.R158fs	C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.R91fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	158						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TCCGGGCGCCTGGGGGGTGTGC	0.614																																						ENST00000582783.1																			0				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(469-474)ccggcgfs		chromosome 19 open reading frame 47																																				SO:0001589	frameshift_variant	126526							g.chr19:40834398_40834399insG	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.472dupC	19.37:g.40834404_40834404dupG	ENSP00000463159:p.Arg158fs					C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.A91fs	p.A158fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		6	483_484	-			158					Q8IZ33|Q8N0V9	Frame_Shift_Ins	INS	ENST00000582783.1	37	c.471_472insC	CCDS58662.1																																																																																				0.614	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		15	679						15	679	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)tccfs	p.S599fs	CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.S599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.S598fs|CEA_ENST00000598976.1_Intron	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_ENST00000405816.1_Frame_Shift_Ins_p.P599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron	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		13	311						13	311	---	---	---	---
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:45556128_45556129insC	ENST00000221455.3	+	4	375_376	c.277_278insC	c.(277-279)accfs	p.T93fs	CLASRP_ENST00000544944.2_Frame_Shift_Ins_p.T93fs|CLASRP_ENST00000391953.4_Intron	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	93					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.L96fs*17(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCCGACTACACCCCCCCTCTG	0.614																																						ENST00000544944.2																			1	Insertion - Frameshift(1)	p.L96fs*17(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(277-279)cccfs		CLK4-associating serine/arginine rich protein																																				SO:0001589	frameshift_variant	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45556128_45556129insC	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.284dupC	19.37:g.45556135_45556135dupC	ENSP00000221455:p.Thr93fs					CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs|CLASRP_ENST00000391953.4_Intron	p.P93fs			Q8N2M8	CLASR_HUMAN			3	969_970	+			93					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Frame_Shift_Ins	INS	ENST00000221455.3	37	c.277_278insC	CCDS12652.2																																																																																				0.614	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		13	692						13	692	---	---	---	---
IGFL2	147920	broad.mit.edu	37	19	46663998	46663999	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:46663998_46663999insC	ENST00000377693.4	+	3	237_238	c.201_202insC	c.(202-204)cccfs	p.P68fs	IGFL2_ENST00000434646.2_Frame_Shift_Ins_p.P79fs|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000600243.1_3'UTR	NM_001135113.1	NP_001128585.1	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	68						extracellular region (GO:0005576)				cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GCCAATGTGGTCCCCCCTGCAC	0.554																																						ENST00000434646.2																			0				cervix(1)|lung(5)	6						c.(232-237)ggccccfs		IGF-like family member 2																																				SO:0001589	frameshift_variant	147920					extracellular region	protein binding	g.chr19:46663998_46663999insC	AY672112	CCDS46121.1, CCDS46122.1	19q13.32	2006-07-14							32929	protein-coding gene	gene with protein product		610545				14702039	Standard	NM_001002915		Approved	UNQ645	uc010xxv.2	Q6UWQ7		ENST00000377693.4:c.207dupC	19.37:g.46664004_46664004dupC	ENSP00000366922:p.Pro68fs					IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000377693.4_Frame_Shift_Ins_p.GP67fs	p.GP78fs	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)	4	525_526	+		Ovarian(192;0.0908)|all_neural(266;0.113)	67					E9PAV1|Q6B9Z3	Frame_Shift_Ins	INS	ENST00000377693.4	37	c.234_235insC	CCDS46121.1																																																																																				0.554	IGFL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000461705.1	NM_001002915		7	2134						7	2134	---	---	---	---
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:48737669_48737670insC	ENST00000359009.4	-	3	378_379	c.66_67insG	c.(64-69)gggacafs	p.T23fs	ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000391898.3_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.D64fs			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	23					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436																																						ENST00000391898.3																			0				endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15						c.(340-342)catfs		caspase recruitment domain family, member 8																																				SO:0001589	frameshift_variant	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48737669_48737670insC	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.67dupG	19.37:g.48737676_48737676dupC	ENSP00000351901:p.Thr23fs					CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000357778.5_5'UTR|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs	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		19	362						19	362	---	---	---	---
FAM83E	54854	broad.mit.edu	37	19	49107037	49107038	+	Frame_Shift_Ins	INS	-	-	G	rs560890077	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		6	13						6	13	---	---	---	---
DKKL1	27120	broad.mit.edu	37	19	49878232	49878233	+	Frame_Shift_Ins	INS	-	-	C	rs539301329		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:49878232_49878233insC	ENST00000221498.2	+	5	1081_1082	c.676_677insC	c.(676-678)tccfs	p.S226fs	AC010524.2_ENST00000599433.1_RNA|DKKL1_ENST00000594268.1_Frame_Shift_Ins_p.S84fs	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	226					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CTCCAGGCTGTCCCCCCGAAAG	0.658																																						ENST00000221498.2																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(676-678)cccfs		dickkopf-like 1																																				SO:0001589	frameshift_variant	27120				anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity	g.chr19:49878232_49878233insC	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"""cancer/testis antigen 34"", ""soggy"""	605418	"""dickkopf-like 1 (soggy)"""			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.682dupC	19.37:g.49878238_49878238dupC	ENSP00000221498:p.Ser226fs					AC010524.2_ENST00000599433.1_RNA|DKKL1_ENST00000594268.1_Frame_Shift_Ins_p.P84fs	p.P226fs	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)	5	1081_1082	+		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	226						Frame_Shift_Ins	INS	ENST00000221498.2	37	c.676_677insC	CCDS12762.1																																																																																				0.658	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419		7	133						7	133	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243087	50243088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		10	941						10	941	---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C	rs557448259|rs568951683	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)gtcfs	p.V333fs	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.53													CCCCCCC|CCCCCCC|CCCCCCCC|insertion	5	0.000998403	0.0	0.0	5008	,	,		18990	0.003		0.001	False		,,,				2504	0.001					ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(997-999)ctgfs		napsin A aspartic peptidase																																				SO:0001589	frameshift_variant	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50862305_50862306insC	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.998dupG	19.37:g.50862312_50862312dupC	ENSP00000253719:p.Val333fs					NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.L333fs	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	8	1205_1206	-		all_neural(266;0.057)	333					Q8WWD9	Frame_Shift_Ins	INS	ENST00000253719.2	37	c.997_998insG	CCDS12794.1																																																																																				0.530	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		25	634						25	634	---	---	---	---
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		10	568						10	568	---	---	---	---
LILRB3	11025	broad.mit.edu	37	19	54725943	54725944	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:54725943_54725944insC	ENST00000391750.1	-	5	550_551	c.414_415insG	c.(412-417)gggaatfs	p.N139fs	LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000346401.6_Frame_Shift_Ins_p.N139fs|LILRA6_ENST00000270464.5_Intron|CTB-83J4.1_ENST00000601161.1_lincRNA|LILRB3_ENST00000407860.2_Frame_Shift_Ins_p.N139fs|LILRB3_ENST00000245620.9_Frame_Shift_Ins_p.N139fs|LILRB3_ENST00000424807.1_Frame_Shift_Ins_p.N139fs|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000469273.1_5'Flank			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	139	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGTCATATTCCCCCCTGAGG	0.579																																						ENST00000391750.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(412-417)ggatatfs		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3																																				SO:0001589	frameshift_variant	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54725943_54725944insC	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.415dupG	19.37:g.54725949_54725949dupC	ENSP00000375630:p.Asn139fs					LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000245620.9_Frame_Shift_Ins_p.Y139fs|LILRB3_ENST00000424807.1_Frame_Shift_Ins_p.Y139fs|LILRB3_ENST00000346401.6_Frame_Shift_Ins_p.Y139fs|LILRB3_ENST00000407860.2_Frame_Shift_Ins_p.Y139fs	p.Y139fs			O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	550_551	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		139			Ig-like C2-type 2.		C9J1P3|C9JIP1|O15471|Q86U49	Frame_Shift_Ins	INS	ENST00000391750.1	37	c.414_415insG	CCDS33105.1																																																																																				0.579	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		9	287						9	287	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57327548	57327548	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:57327548delA	ENST00000326441.9	-	10	2625	c.2262delT	c.(2260-2262)tctfs	p.S754fs	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Frame_Shift_Del_p.S630fs|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.S754fs|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Frame_Shift_Del_p.S628fs	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	754					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CATAGGGGTTAGAGCTAATGG	0.418																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(2260-2262)tcfs		paternally expressed 3							162.0	158.0	159.0					19																	57327548		2203	4300	6503	SO:0001589	frameshift_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327548delA	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2262delT	19.37:g.57327548delA	ENSP00000326581:p.Ser754fs					ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.S754fs|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Frame_Shift_Del_p.S630fs|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Frame_Shift_Del_p.S628fs|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	p.S754fs	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	2625	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	754					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Frame_Shift_Del	DEL	ENST00000326441.9	37	c.2262delT	CCDS12948.1																																																																																				0.418	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			50	591						50	591	---	---	---	---
ZNF544	27300	broad.mit.edu	37	19	58758151	58758152	+	Frame_Shift_Ins	INS	-	-	C	rs201394081		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:58758151_58758152insC	ENST00000596652.1	+	5	469_470	c.235_236insC	c.(235-237)gccfs	p.A79fs	ZNF544_ENST00000596929.1_Frame_Shift_Ins_p.A79fs|ZNF544_ENST00000599227.1_Frame_Shift_Ins_p.GP67fs|ZNF544_ENST00000415203.2_Intron|CTD-3138B18.4_ENST00000600029.1_3'UTR|ZNF544_ENST00000599953.1_5'UTR|ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000333581.5_Frame_Shift_Ins_p.A79fs|ZNF544_ENST00000594384.1_Frame_Shift_Ins_p.GP67fs|ZNF544_ENST00000269829.4_Frame_Shift_Ins_p.A79fs|ZNF544_ENST00000595981.1_Frame_Shift_Ins_p.A79fs|ZNF544_ENST00000600044.1_Intron|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000596825.1_Frame_Shift_Ins_p.GP67fs			Q6NX49	ZN544_HUMAN	zinc finger protein 544	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGAGCAGGAGGCCCCCCGAGGT	0.564																																						ENST00000599227.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(199-201)gccfs		zinc finger protein 544																																				SO:0001589	frameshift_variant	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58758151_58758152insC	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.241dupC	19.37:g.58758157_58758157dupC	ENSP00000469635:p.Ala79fs					ZNF544_ENST00000599953.1_5'UTR|CTD-3138B18.4_ENST00000600029.1_3'UTR|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000595981.1_Frame_Shift_Ins_p.P79fs|ZNF544_ENST00000596929.1_Frame_Shift_Ins_p.P79fs|ZNF544_ENST00000596825.1_Frame_Shift_Ins_p.A67fs|ZNF544_ENST00000596652.1_Frame_Shift_Ins_p.P79fs|ZNF544_ENST00000269829.4_Frame_Shift_Ins_p.P79fs|ZNF544_ENST00000333581.5_Frame_Shift_Ins_p.P79fs|ZNF544_ENST00000600044.1_Intron|ZNF544_ENST00000594384.1_Frame_Shift_Ins_p.A67fs|ZNF544_ENST00000415203.2_Intron	p.A67fs			Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	6	784_785	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	0			KRAB.		A8K6J1|Q9UEX4	Frame_Shift_Ins	INS	ENST00000596652.1	37	c.200_201insC	CCDS12973.1																																																																																				0.564	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		8	556						8	556	---	---	---	---
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(259-261)cccfs	p.P87fs	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.P87fs|NRSN2_ENST00000608736.1_Intron	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	87						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(256-261)gtccccfs		neurensin 2																																				SO:0001589	frameshift_variant	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:333922_333923insC	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.264dupC	20.37:g.333928_333928dupC	ENSP00000371728:p.Pro87fs					NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs	p.VP86fs	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN			4	498_499	+		all_cancers(10;0.0834)	86					A8K3B2|Q6FII5|Q9NUD3	Frame_Shift_Ins	INS	ENST00000382291.3	37	c.258_259insC	CCDS12996.1																																																																																				0.644	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		7	255						7	255	---	---	---	---
PSMF1	9491	broad.mit.edu	37	20	1145690	1145691	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:1145690_1145691insC	ENST00000335877.6	+	7	958_959	c.782_783insC	c.(781-786)ctccccfs	p.LP261fs	PSMF1_ENST00000246015.4_Intron|PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000333082.3_Frame_Shift_Ins_p.LP261fs	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	261	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCAGACCATCTCCCCCCGCCGG	0.579																																						ENST00000335877.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						c.(781-783)cccfs		proteasome (prosome, macropain) inhibitor subunit 1 (PI31)																																				SO:0001589	frameshift_variant	9491				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding	g.chr20:1145690_1145691insC	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.788dupC	20.37:g.1145696_1145696dupC	ENSP00000338039:p.Leu261fs					PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000333082.3_Frame_Shift_Ins_p.P261fs|PSMF1_ENST00000246015.4_Intron	p.P261fs	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN			7	958_959	+			261			Pro-rich.		A0AVQ9|D3DVW3|Q9H4I1	Frame_Shift_Ins	INS	ENST00000335877.6	37	c.782_783insC	CCDS13010.1																																																																																				0.579	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		15	562						15	562	---	---	---	---
FASTKD5	60493	broad.mit.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	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		19	411						19	411	---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3684490	3684491	+	Frame_Shift_Ins	INS	-	-	G	rs373178169		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:3684490_3684491insG	ENST00000344754.4	-	4	953_954	c.954_955insC	c.(952-957)cccatcfs	p.I319fs	SIGLEC1_ENST00000202578.4_Frame_Shift_Ins_p.I319fs	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	319	Ig-like C2-type 2.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.P318P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGGAGGCTGATGGGGGGTGAGA	0.619																																						ENST00000344754.4																			1	Substitution - coding silent(1)	p.P318P(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(952-957)cctcagfs		sialic acid binding Ig-like lectin 1, sialoadhesin																																				SO:0001589	frameshift_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3684490_3684491insG	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.955dupC	20.37:g.3684496_3684496dupG	ENSP00000341141:p.Ile319fs					SIGLEC1_ENST00000202578.4_Frame_Shift_Ins_p.Q319fs	p.Q319fs	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			4	953_954	-			319			Ig-like C2-type 2.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Frame_Shift_Ins	INS	ENST00000344754.4	37	c.954_955insC	CCDS13060.1																																																																																				0.619	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		8	213						8	213	---	---	---	---
SMOX	54498	broad.mit.edu	37	20	4163027	4163028	+	Frame_Shift_Ins	INS	-	-	G	rs145014650|rs6084654		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:4163027_4163028insG	ENST00000305958.4	+	5	1126_1127	c.901_902insG	c.(901-903)cggfs	p.R301fs	SMOX_ENST00000379460.2_Frame_Shift_Ins_p.R301fs|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000278795.3_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	301			R -> P (in dbSNP:rs6084654).		cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.R301W(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGAGGAGCCCCGGGGGGGCAGG	0.673																																						ENST00000305958.4																			1	Substitution - Missense(1)	p.R301W(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(901-903)gggfs		spermine oxidase	Spermine(DB00127)																																			SO:0001589	frameshift_variant	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4163027_4163028insG	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.908dupG	20.37:g.4163034_4163034dupG	ENSP00000307252:p.Arg301fs					SMOX_ENST00000379460.2_Frame_Shift_Ins_p.G301fs|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000278795.3_Intron	p.G301fs	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN			5	1126_1127	+			301		R -> P (in dbSNP:rs6084654).			A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Frame_Shift_Ins	INS	ENST00000305958.4	37	c.901_902insG	CCDS13075.1																																																																																				0.673	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		7	57						7	57	---	---	---	---
JAG1	182	broad.mit.edu	37	20	10630923	10630924	+	Frame_Shift_Ins	INS	-	-	G	rs144204614|rs35615084		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:10630923_10630924insG	ENST00000254958.5	-	9	1720_1721	c.1205_1206insC	c.(1204-1206)ccafs	p.P402fs	JAG1_ENST00000423891.2_Frame_Shift_Ins_p.P243fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	402	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAGTCCACTGTGGGGGGCACAC	0.465									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44	GRCh37	CI983122	JAG1	I		c.(1204-1206)ccafs		jagged 1																																				SO:0001589	frameshift_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10630923_10630924insG	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1206dupC	20.37:g.10630929_10630929dupG	ENSP00000254958:p.Pro402fs					JAG1_ENST00000423891.2_Frame_Shift_Ins_p.P243fs	p.P402fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			9	1720_1721	-			402			EGF-like 5; calcium-binding (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Frame_Shift_Ins	INS	ENST00000254958.5	37	c.1205_1206insC	CCDS13112.1																																																																																				0.465	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		7	172						7	172	---	---	---	---
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		19	311						19	311	---	---	---	---
MAPRE1	22919	broad.mit.edu	37	20	31434521	31434522	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:31434521_31434522insG	ENST00000375571.5	+	6	834_835	c.695_696insG	c.(694-699)gaggggfs	p.EG232fs	RP5-1085F17.4_ENST00000565572.1_RNA	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	232	APC-binding.|DCTN1-binding.|EB1 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00576}.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						CAGGAGAACGAGGGGGAAAACG	0.406																																						ENST00000375571.5																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(694-696)gggfs		microtubule-associated protein, RP/EB family, member 1																																				SO:0001589	frameshift_variant	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31434521_31434522insG	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.700dupG	20.37:g.31434526_31434526dupG	ENSP00000364721:p.Glu232fs					RP5-1085F17.4_ENST00000565572.1_RNA	p.G232fs	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN			6	834_835	+			232			APC-binding.|DCTN1-binding.|EB1 C-terminal.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.		B2R6I7|E1P5M8|Q3KQS8	Frame_Shift_Ins	INS	ENST00000375571.5	37	c.695_696insG	CCDS13208.1																																																																																				0.406	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		7	1096						7	1096	---	---	---	---
DHX35	60625	broad.mit.edu	37	20	37650553	37650554	+	Frame_Shift_Ins	INS	-	-	C	rs142673637		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:37650553_37650554insC	ENST00000252011.3	+	16	1601_1602	c.1568_1569insC	c.(1567-1572)gtccccfs	p.VP523fs	DHX35_ENST00000373323.4_Frame_Shift_Ins_p.VP492fs|DHX35_ENST00000373325.2_Frame_Shift_Ins_p.VP523fs	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	523					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)				ATCTTTGTGGTCCCCCCAAACC	0.455																																						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.(1567-1569)gccfs		DEAH (Asp-Glu-Ala-His) box polypeptide 35																																				SO:0001589	frameshift_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37650553_37650554insC	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.1574dupC	20.37:g.37650559_37650559dupC	ENSP00000252011:p.Val523fs					DHX35_ENST00000373325.2_Frame_Shift_Ins_p.A523fs|DHX35_ENST00000373323.4_Frame_Shift_Ins_p.A492fs	p.A523fs	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			16	1601_1602	+		Myeloproliferative disorder(115;0.00878)	523					A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Frame_Shift_Ins	INS	ENST00000252011.3	37	c.1568_1569insC	CCDS13310.1																																																																																				0.455	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		9	1055						9	1055	---	---	---	---
LPIN3	64900	broad.mit.edu	37	20	39977298	39977299	+	Frame_Shift_Ins	INS	-	-	G	rs546459459		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:39977298_39977299insG	ENST00000373257.3	+	4	419_420	c.328_329insG	c.(328-330)tggfs	p.W110fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	110					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ACCCATCCCTTGGGGGGGTCTG	0.663																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(328-330)gggfs		lipin 3																																				SO:0001589	frameshift_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39977298_39977299insG	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.335dupG	20.37:g.39977305_39977305dupG	ENSP00000362354:p.Trp110fs						p.G110fs	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			4	419_420	+		Myeloproliferative disorder(115;0.000739)	110					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Frame_Shift_Ins	INS	ENST00000373257.3	37	c.328_329insG	CCDS33469.1																																																																																				0.663	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		7	126						7	126	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989890	47989891	+	Frame_Shift_Ins	INS	-	-	G	rs151175979		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:47989890_47989891insG	ENST00000371741.4	-	2	2372_2373	c.2206_2207insC	c.(2206-2208)cggfs	p.R736fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	736					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CTCAGGAGACCGGGGGGGTGTC	0.559																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2206-2208)gtcfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989890_47989891insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2207dupC	20.37:g.47989897_47989897dupG	ENSP00000360806:p.Arg736fs						p.V736fs	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2372_2373	-			736					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2206_2207insC	CCDS13418.1																																																																																				0.559	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		7	183						7	183	---	---	---	---
CDH26	60437	broad.mit.edu	37	20	58564125	58564126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:58564125_58564126insC	ENST00000244047.5	+	9	1501_1502	c.1190_1191insC	c.(1189-1194)caccccfs	p.HP397fs	CDH26_ENST00000348616.4_Frame_Shift_Ins_p.HP397fs			Q8IXH8	CAD26_HUMAN	cadherin 26	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCAGCCTTTCACCCCCAGAGCT	0.564																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1189-1191)cccfs		cadherin 26																																				SO:0001589	frameshift_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58564125_58564126insC	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1195dupC	20.37:g.58564130_58564130dupC	ENSP00000244047:p.His397fs					CDH26_ENST00000244047.5_Frame_Shift_Ins_p.P397fs	p.P397fs	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		9	1490_1491	+	all_lung(29;0.00963)		397			Cadherin 4.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Frame_Shift_Ins	INS	ENST00000244047.5	37	c.1190_1191insC																																																																																					0.564	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		7	1865						7	1865	---	---	---	---
COL9A3	1299	broad.mit.edu	37	20	61468510	61468511	+	Frame_Shift_Ins	INS	-	-	C	rs149126795		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:61468510_61468511insC	ENST00000343916.3	+	30	1682_1683	c.1679_1680insC	c.(1678-1683)ggccccfs	p.GP560fs	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	560	Triple-helical region 2 (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGTCCAGCTGGCCCCCCTGGGC	0.673																																						ENST00000343916.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1678-1680)gccfs		collagen, type IX, alpha 3																																				SO:0001589	frameshift_variant	1299				axon guidance	collagen type IX		g.chr20:61468510_61468511insC	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1685dupC	20.37:g.61468516_61468516dupC	ENSP00000341640:p.Gly560fs					COL9A3_ENST00000462700.1_3'UTR	p.A560fs	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN			30	1682_1683	+	Breast(26;5.68e-08)		560			Triple-helical region 2 (COL2).		Q13681|Q9H4G9|Q9UPE2	Frame_Shift_Ins	INS	ENST00000343916.3	37	c.1679_1680insC	CCDS13505.1																																																																																				0.673	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		9	318						9	318	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11038792	11038793	+	RNA	INS	-	-	T	rs60506963|rs8175341	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr21:11038792_11038793insT	ENST00000470054.1	-	0	1410_1411							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCCATGCCAGTTTTTTGGAGT	0.416																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038792_11038793insT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038798_11038798dupT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1410_1411	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.416	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	339						7	339	---	---	---	---
SIM2	6493	broad.mit.edu	37	21	38084848	38084849	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr21:38084848_38084849insT	ENST00000290399.6	+	3	887_888	c.274_275insT	c.(274-276)gttfs	p.V92fs	SIM2_ENST00000430056.3_Frame_Shift_Ins_p.V92fs	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	92	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GGATGGATTTGTTTTTGTGGTA	0.381																																						ENST00000290399.6																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						c.(274-276)tttfs		single-minded family bHLH transcription factor 2																																				SO:0001589	frameshift_variant	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38084848_38084849insT		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.279dupT	21.37:g.38084853_38084853dupT	ENSP00000290399:p.Val92fs					SIM2_ENST00000430056.3_Frame_Shift_Ins_p.F92fs	p.F92fs	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN			3	887_888	+			92			PAS 1.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Frame_Shift_Ins	INS	ENST00000290399.6	37	c.274_275insT	CCDS13646.1																																																																																				0.381	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		8	545						8	545	---	---	---	---
RIPPLY3	53820	broad.mit.edu	37	21	38390442	38390443	+	Frame_Shift_Ins	INS	-	-	G	rs373201924		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr21:38390442_38390443insG	ENST00000329553.2	+	4	718_719	c.508_509insG	c.(508-510)tggfs	p.W170fs	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	170					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											GGGTGACCACTGGGGGGAGGGT	0.634																																						ENST00000329553.2																			0											c.(508-510)gggfs		ripply transcriptional repressor 3																																				SO:0001589	frameshift_variant	53820							g.chr21:38390442_38390443insG	AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"""Down syndrome critical region gene 6"", ""ripply3 homolog (zebrafish)"""	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.514dupG	21.37:g.38390448_38390448dupG	ENSP00000331734:p.Trp170fs					RIPPLY3_ENST00000485272.1_3'UTR	p.G170fs	NM_018962.2	NP_061835.1					4	718_719	+									Frame_Shift_Ins	INS	ENST00000329553.2	37	c.508_509insG	CCDS13648.1																																																																																				0.634	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1			7	266						7	266	---	---	---	---
POFUT2	23275	broad.mit.edu	37	21	46705816	46705817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr21:46705816_46705817insG	ENST00000349485.5	-	2	184_185	c.158_159insC	c.(157-159)ccgfs	p.P53fs	POFUT2_ENST00000331343.7_Frame_Shift_Ins_p.P53fs|POFUT2_ENST00000471540.1_5'Flank|BX322557.10_ENST00000454115.2_RNA	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	53	Substrate binding.				fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TGAAGCCTTCCGGGGGGTTGAC	0.554																																						ENST00000331343.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20						c.(157-159)cgafs		protein O-fucosyltransferase 2																																				SO:0001589	frameshift_variant	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46705816_46705817insG	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.159dupC	21.37:g.46705822_46705822dupG	ENSP00000339613:p.Pro53fs					POFUT2_ENST00000349485.5_Frame_Shift_Ins_p.R53fs	p.R53fs	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	2	184_185	-			53					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Frame_Shift_Ins	INS	ENST00000349485.5	37	c.158_159insC	CCDS13719.1																																																																																				0.554	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		12	701						12	701	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47666704	47666705	+	Frame_Shift_Ins	INS	-	-	G	rs200634923	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr21:47666704_47666705insG	ENST00000397708.1	-	22	4640_4641	c.4386_4387insC	c.(4384-4389)cccaaafs	p.K1463fs	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.K1463fs|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1463					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTTCATTTTGGGGGGAAGCA	0.609																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(4384-4389)ccaaatfs		minichromosome maintenance complex component 3 associated protein																																				SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47666704_47666705insG	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4387dupC	21.37:g.47666710_47666710dupG	ENSP00000380820:p.Lys1463fs					MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.N1463fs|MCM3AP-AS1_ENST00000414659.1_RNA	p.N1463fs			O60318	MCM3A_HUMAN			22	4640_4641	-	Breast(49;0.112)		1463					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Ins	INS	ENST00000397708.1	37	c.4386_4387insC	CCDS13734.1																																																																																				0.609	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		11	747						11	747	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:18022285_18022286insC	ENST00000400585.2	+	16	2402_2403	c.1964_1965insC	c.(1963-1968)gtccccfs	p.VP655fs	CECR2_ENST00000262608.8_Frame_Shift_Ins_p.VP797fs|CECR2_ENST00000400573.5_Frame_Shift_Ins_p.VP796fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2389-2391)gccfs		cat eye syndrome chromosome region, candidate 2																																				SO:0001589	frameshift_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022285_18022286insC	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1971dupC	22.37:g.18022292_18022292dupC	ENSP00000383428:p.Val655fs					CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs|CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs	p.A797fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2390_2391	+		all_epithelial(15;0.139)	838					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Ins	INS	ENST00000400585.2	37	c.2390_2391insC																																																																																					0.609	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		15	463						15	463	---	---	---	---
CCDC116	164592	broad.mit.edu	37	22	21991239	21991240	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:21991239_21991240insC	ENST00000292779.3	+	5	1883_1884	c.1722_1723insC	c.(1723-1725)cccfs	p.P575fs		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	0										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					TGGGTTCCAGTCCCCCCAAGTC	0.564																																						ENST00000292779.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22						c.(1720-1725)agccccfs		coiled-coil domain containing 116																																				SO:0001589	frameshift_variant	164592							g.chr22:21991239_21991240insC	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1728dupC	22.37:g.21991245_21991245dupC	ENSP00000292779:p.Pro575fs						p.SP574fs	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN			5	1883_1884	+	Colorectal(54;0.105)		47					Q8N9Y9	Frame_Shift_Ins	INS	ENST00000292779.3	37	c.1722_1723insC	CCDS13791.1																																																																																				0.564	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		12	1466						12	1466	---	---	---	---
CRYBB1	1414	broad.mit.edu	37	22	26995459	26995460	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:26995459_26995460insG	ENST00000215939.2	-	6	883_884	c.753_754insC	c.(751-756)cccaagfs	p.K252fs	TPST2_ENST00000403880.1_5'Flank	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	252	C-terminal arm.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TGGACTCACTTGGGGGGCTCTG	0.554																																						ENST00000215939.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						c.(751-756)ccagtgfs		crystallin, beta B1																																				SO:0001589	frameshift_variant	1414				visual perception		structural constituent of eye lens	g.chr22:26995459_26995460insG		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.754dupC	22.37:g.26995465_26995465dupG	ENSP00000215939:p.Lys252fs						p.V252fs	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN			6	883_884	-			252			C-terminal arm.			Frame_Shift_Ins	INS	ENST00000215939.2	37	c.753_754insC	CCDS13840.1																																																																																				0.554	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		12	653						12	653	---	---	---	---
THOC5	8563	broad.mit.edu	37	22	29921837	29921838	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:29921837_29921838insG	ENST00000490103.1	-	12	1286_1287	c.1164_1165insC	c.(1162-1167)cccatcfs	p.I389fs	THOC5_ENST00000397871.1_Frame_Shift_Ins_p.I389fs|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397872.1_Frame_Shift_Ins_p.I389fs|THOC5_ENST00000397873.2_Frame_Shift_Ins_p.I389fs	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	389					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTGCACTGATGGGGGTGATCA	0.545																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1162-1167)cctcagfs		THO complex 5																																				SO:0001589	frameshift_variant	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29921837_29921838insG	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1165dupC	22.37:g.29921842_29921842dupG	ENSP00000420306:p.Ile389fs					THOC5_ENST00000397872.1_Frame_Shift_Ins_p.Q389fs|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397873.2_Frame_Shift_Ins_p.Q389fs|THOC5_ENST00000397871.1_Frame_Shift_Ins_p.Q389fs	p.Q389fs	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			12	1286_1287	-			389					O60839|Q9UPZ5	Frame_Shift_Ins	INS	ENST00000490103.1	37	c.1164_1165insC	CCDS13859.1																																																																																				0.545	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		8	1367						8	1367	---	---	---	---
BPIFC	254240	broad.mit.edu	37	22	32831828	32831829	+	Frame_Shift_Ins	INS	-	-	G	rs199560755	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:32831828_32831829insG	ENST00000397452.1	-	9	896_897	c.786_787insC	c.(784-789)cccttcfs	p.F263fs	BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_Frame_Shift_Ins_p.F77fs|BPIFC_ENST00000300399.3_Frame_Shift_Ins_p.F263fs			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	263						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										ACTGGTGAGAAGGGGGGGTCGG	0.46														20	0.00399361	0.0008	0.0	5008	,	,		19618	0.0179		0.0	False		,,,				2504	0.001					ENST00000397452.1																			0											c.(784-789)cctctcfs		BPI fold containing family C				4,4260		0,4,2128						5.7	0.2			81	0,8254		0,0,4127	no	frameshift	BPIFC	NM_174932.2		0,4,6255	A1A1,A1R,RR		0.0,0.0938,0.032				4,12514				SO:0001589	frameshift_variant	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32831828_32831829insG	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.787dupC	22.37:g.32831835_32831835dupG	ENSP00000380594:p.Phe263fs					BPIFC_ENST00000432451.2_Frame_Shift_Ins_p.L77fs|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000300399.3_Frame_Shift_Ins_p.L263fs	p.L263fs			Q8NFQ6	BPIL2_HUMAN			9	896_897	-			263					A2RRF1	Frame_Shift_Ins	INS	ENST00000397452.1	37	c.786_787insC	CCDS13906.1																																																																																				0.460	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		9	669						9	669	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6964-6966)cccfs	p.P2322fs	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_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		16	323						16	323	---	---	---	---
MEI1	150365	broad.mit.edu	37	22	42159249	42159250	+	Frame_Shift_Ins	INS	-	-	C	rs192926292		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:42159249_42159250insC	ENST00000401548.3	+	19	2232_2233	c.2192_2193insC	c.(2191-2196)cgccccfs	p.RP731fs	MEI1_ENST00000400107.1_Frame_Shift_Ins_p.RP99fs|MEI1_ENST00000540880.1_Frame_Shift_Ins_p.RP49fs|MEI1_ENST00000540833.1_Frame_Shift_Ins_p.RP471fs|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGGCGAGCGCCCCCCACTGG	0.535											OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(2191-2193)cccfs		meiosis inhibitor 1																																				SO:0001589	frameshift_variant	150365						binding	g.chr22:42159249_42159250insC	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2198dupC	22.37:g.42159255_42159255dupC	ENSP00000384115:p.Arg731fs		OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	906	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Frame_Shift_Ins_p.P471fs|MEI1_ENST00000540880.1_Frame_Shift_Ins_p.P49fs|MEI1_ENST00000400107.1_Frame_Shift_Ins_p.P99fs	p.P731fs	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			19	2232_2233	+			731						Frame_Shift_Ins	INS	ENST00000401548.3	37	c.2192_2193insC	CCDS46718.1																																																																																				0.535	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		7	451						7	451	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42271636	42271637	+	Frame_Shift_Ins	INS	-	-	C	rs79727196		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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	704						15	704	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	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		9	286						9	286	---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46780585	46780586	+	Splice_Site	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:46780585_46780586insG	ENST00000262738.3	-	20	6739		c.e20-2			NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1						anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGCAAGAACTGGGGGGACAGT	0.52																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.e20-2		cadherin, EGF LAG seven-pass G-type receptor 1																																				SO:0001630	splice_region_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46780585_46780586insG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6740-2->C	22.37:g.46780591_46780591dupG								NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	20	6739	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)						O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Splice_Site	INS	ENST00000262738.3	37		CCDS14076.1																																																																																				0.520	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	Intron	9	642						9	642	---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-93)caccccfs	p.HP30fs	TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.HP30fs|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000472791.1_3'UTR	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_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000472791.1_3'UTR	p.P30fs	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	2	255_256	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	30					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Frame_Shift_Ins	INS	ENST00000337137.4	37	c.89_90insC	CCDS14078.1																																																																																				0.569	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		23	627						23	627	---	---	---	---
CSF2RA	1438	broad.mit.edu	37	X	1428420	1428421	+	3'UTR	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:1428420_1428421insG	ENST00000381524.3	+	0	1437_1438				CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000355432.3_Frame_Shift_Ins_p.R358fs|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000417535.2_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTCCGCGACACGGGGGAACTGT	0.495																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000355432.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(1072-1074)gggfs		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)																																			SO:0001624	3_prime_UTR_variant	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1428420_1428421insG	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.*49->G	X.37:g.1428425_1428425dupG						CSF2RA_ENST00000381524.3_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000417535.2_3'UTR	p.G358fs	NM_172246.2	NP_758449.1	P15509	CSF2R_HUMAN			11	1221_1222	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	0					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Frame_Shift_Ins	INS	ENST00000381524.3	37	c.1072_1073insG	CCDS35191.1																																																																																				0.495	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			8	2867						8	2867	---	---	---	---
PRRG1	5638	broad.mit.edu	37	X	37312610	37312611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:37312610_37312611insC	ENST00000542554.1	+	5	665_666	c.393_394insC	c.(394-396)cccfs	p.P132fs	PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.P132fs|PRRG1_ENST00000491253.1_3'UTR|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.P132fs|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.P132fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	132	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485																																						ENST00000542554.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P135fs*3(1)|p.P134fs*19(1)	ovary(2)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(391-396)ccccccfs		proline rich Gla (G-carboxyglutamic acid) 1																																				SO:0001589	frameshift_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312610_37312611insC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.401dupC	X.37:g.37312618_37312618dupC	ENSP00000444278:p.Pro132fs					PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs	p.PP131fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			5	665_666	+			131			Poly-Pro.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Ins	INS	ENST00000542554.1	37	c.393_394insC	CCDS14239.1																																																																																				0.485	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		10	143						10	143	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)gaafs	p.E161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.E73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.48																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(481-483)acafs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48207024_48207025insC	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.482dupG	X.37:g.48207030_48207030dupC	ENSP00000298396:p.Glu161fs					SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	p.T161fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN			7	533_534	-			161					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.481_482insG	CCDS14291.1																																																																																				0.480	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		18	2343						18	2343	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)ccgfs	p.P142fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.P54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.P142fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			2	Substitution - Missense(2)	p.P142Q(2)	lung(2)	endometrium(3)|large_intestine(1)|lung(9)	13						c.(424-426)cggfs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48209462_48209463insG	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.426dupC	X.37:g.48209468_48209468dupG	ENSP00000298396:p.Pro142fs					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		7	241						7	241	---	---	---	---
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)ggafs	p.G482fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""		"""papillary renal, alveolar soft part sarcoma, renal"""	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1444-1446)gccfs		transcription factor binding to IGHM enhancer 3																																				SO:0001589	frameshift_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48887951_48887952insC	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1446dupG	X.37:g.48887959_48887959dupC	ENSP00000314129:p.Gly482fs					TFE3_ENST00000493583.1_5'UTR	p.A482fs	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN			10	1704_1705	-			482					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Ins	INS	ENST00000315869.7	37	c.1445_1446insG	CCDS14315.3																																																																																				0.649	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		10	92						10	92	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50377684	50377685	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:50377684_50377685insG	ENST00000289292.7	-	4	1671_1672	c.1388_1389insC	c.(1387-1389)cctfs	p.P463fs	SHROOM4_ENST00000460112.3_Frame_Shift_Ins_p.P347fs|SHROOM4_ENST00000376020.2_Frame_Shift_Ins_p.P463fs			Q9ULL8	SHRM4_HUMAN	shroom family member 4	463					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TTCCTCCTGTAGGGGGGCATGG	0.554																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1387-1389)cacfs		shroom family member 4																																				SO:0001589	frameshift_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377684_50377685insG	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1389dupC	X.37:g.50377690_50377690dupG	ENSP00000289292:p.Pro463fs					SHROOM4_ENST00000460112.3_Frame_Shift_Ins_p.H347fs|SHROOM4_ENST00000289292.7_Frame_Shift_Ins_p.H463fs	p.H463fs	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	1413_1414	-	Ovarian(276;0.236)		463					A7E2X9|D6RFW0|Q96LA0	Frame_Shift_Ins	INS	ENST00000289292.7	37	c.1388_1389insC	CCDS35277.1																																																																																				0.554	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		7	426						7	426	---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		9	1059						9	1059	---	---	---	---
RGAG4	340526	broad.mit.edu	37	X	71349802	71349803	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:71349802_71349803insG	ENST00000545866.1	-	1	1955_1956	c.1588_1589insC	c.(1588-1590)caafs	p.Q530fs	RGAG4_ENST00000609883.1_Frame_Shift_Ins_p.Q530fs|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	530										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GCGAATCAGTTGGGGGGAGCTG	0.579																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(1588-1590)actfs		retrotransposon gag domain containing 4																																				SO:0001589	frameshift_variant	340526							g.chrX:71349802_71349803insG	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1589dupC	X.37:g.71349808_71349808dupG	ENSP00000441366:p.Gln530fs					RGAG4_ENST00000479991.1_Frame_Shift_Ins_p.T530fs|NHSL2_ENST00000540800.1_Intron	p.T530fs			Q5HYW3	RGAG4_HUMAN			1	1955_1956	-	Renal(35;0.156)		530					A7E2W7|Q8NCM4|Q9NPX1	Frame_Shift_Ins	INS	ENST00000545866.1	37	c.1588_1589insC	CCDS55446.1																																																																																				0.579	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		7	343						7	343	---	---	---	---
VSIG1	340547	broad.mit.edu	37	X	107310311	107310312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:107310311_107310312insC	ENST00000217957.5	+	3	476_477	c.359_360insC	c.(358-363)aaccccfs	p.NP120fs	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000415430.3_Frame_Shift_Ins_p.NP156fs	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	120	Ig-like V-type 1.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GATGTTAACAACCCCCCAGACT	0.436																																						ENST00000415430.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(466-468)accfs		V-set and immunoglobulin domain containing 1																																				SO:0001589	frameshift_variant	340547					integral to membrane		g.chrX:107310311_107310312insC	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.365dupC	X.37:g.107310317_107310317dupC	ENSP00000217957:p.Asn120fs					VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Frame_Shift_Ins_p.T120fs	p.T156fs	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN			4	628_629	+			120			Ig-like C2-type 2.		C9J4P2|Q6MZS4	Frame_Shift_Ins	INS	ENST00000217957.5	37	c.467_468insC	CCDS14535.1																																																																																				0.436	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		7	568						7	568	---	---	---	---
DKC1	1736	broad.mit.edu	37	X	153995315	153995316	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:153995315_153995316insG	ENST00000369550.5	+	6	702_703	c.492_493insG	c.(493-495)gggfs	p.G165fs	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	165					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGCTATTGAAGGGGGGACCCA	0.475									Congenital Dyskeratosis																													ENST00000369550.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(490-495)gaggggfs		dyskeratosis congenita 1, dyskerin																																				SO:0001589	frameshift_variant	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:153995315_153995316insG	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.498dupG	X.37:g.153995321_153995321dupG	ENSP00000358563:p.Gly165fs						p.EG164fs	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN			6	702_703	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		164					F5BSB3|O43845|Q96G67|Q9Y505	Frame_Shift_Ins	INS	ENST00000369550.5	37	c.492_493insG	CCDS14761.1																																																																																				0.475	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		9	403						9	403	---	---	---	---
